<?xml version="1.0" encoding="utf-8"?>
<!DOCTYPE html PUBLIC "-//W3C//DTD XHTML 1.0 Transitional//EN" "http://www.w3.org/TR/xhtml1/DTD/xhtml1-transitional.dtd">
<html xmlns="http://www.w3.org/1999/xhtml" lang="en" xml:lang="en">
<head xmlns:xi="http://www.w3.org/2001/XInclude"><meta http-equiv="Content-Type" content="text/html; charset=utf-8" />
<!-- meta -->
<meta name="keywords" content="C1698196, decreased arm strength, finding, muscle weakness of the upper limbs, muscle weakness of upper limb, muscle weakness upper limb, muscle weakness, upper limbs, upper limb muscle weakness, weak arm, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Weakness of the muscles of the arms." /><meta name="robots" content="index,nofollow,noarchive" />
<meta name="ncbi_app" content="entrez" /><meta name="ncbi_db" content="medgen" /><meta name="ncbi_report" content="fullreport" /><meta name="ncbi_format" content="html" /><meta name="ncbi_pagesize" content="20" /><meta name="ncbi_sortorder" content="default" /><meta name="ncbi_pageno" content="1" /><meta name="ncbi_resultcount" content="1" /><meta name="ncbi_op" content="retrieve" /><meta name="ncbi_pdid" content="fullreport" /><meta name="ncbi_sessionid" content="CE8B5AF87C7FFCB1_0191SID" /><meta name="ncbi_uidlist" content="305607" /><meta name="ncbi_filter" content="clinical" /><meta name="ncbi_stat" content="false" /><meta name="ncbi_hitstat" content="false" />
<!-- title -->
<title>Upper limb muscle weakness (Concept Id: C1698196)
- MedGen - NCBI</title>
<!-- Common JS and CSS -->
<script type="text/javascript">
var ncbi_startTime = new Date();
</script>
<script type="text/javascript" src="https://static.pubmed.gov/core/jig/1.15.10/js/jig.min.js"></script>
<link xmlns="http://www.w3.org/1999/xhtml" type="text/css" rel="stylesheet" href="//static.pubmed.gov/portal/portal3rc.fcgi/4218191/css/4207974/4206132.css" xml:base="http://127.0.0.1/sites/static/header_footer/" />
<link rel="shortcut icon" href="//www.ncbi.nlm.nih.gov/favicon.ico" /><meta name="ncbi_phid" content="CE8DD6557D30E7610000000000AF0094.m_28" /><script type="text/javascript"><!--
var ScriptPath = '/portal/';
var objHierarchy = {"name":"EntrezSystem2","type":"Layout","realname":"EntrezSystem2",
"children":[{"name":"EntrezSystem2.PEntrez","type":"Cluster","realname":"EntrezSystem2.PEntrez",
"children":[{"name":"EntrezSystem2.PEntrez.DbConnector","type":"Portlet","realname":"EntrezSystem2.PEntrez.PEntrez.DbConnector","shortname":"DbConnector"},
{"name":"EntrezSystem2.PEntrez.ParamContainer","type":"Portlet","realname":"EntrezSystem2.PEntrez.PEntrez.ParamContainer","shortname":"ParamContainer"},
{"name":"EntrezSystem2.PEntrez.MyNcbi","type":"Portlet","realname":"EntrezSystem2.PEntrez.PEntrez.MyNcbi","shortname":"MyNcbi"},
{"name":"EntrezSystem2.PEntrez.UserPreferenceUrlParamContainer","type":"Portlet","realname":"EntrezSystem2.PEntrez.PEntrez.UserPreferenceUrlParamContainer","shortname":"UserPreferenceUrlParamContainer"},
{"name":"EntrezSystem2.PEntrez.GridProperty","type":"Portlet","realname":"EntrezSystem2.PEntrez.PEntrez.GridProperty","shortname":"GridProperty"},
{"name":"EntrezSystem2.PEntrez.MedGen","type":"Cluster","realname":"EntrezSystem2.PEntrez.MedGen",
"children":[{"name":"EntrezSystem2.PEntrez.MedGen.NoPortlet","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.Entrez_Database.NoPortlet","shortname":"NoPortlet"},
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_PageController","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_PageController","shortname":"MedGen_PageController"},
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_SearchBar","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_SearchBar","shortname":"MedGen_SearchBar"},
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_BotRequest","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_BotRequest","shortname":"MedGen_BotRequest"},
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_LimitsTab","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_LimitsTab","shortname":"MedGen_LimitsTab"},
{"name":"EntrezSystem2.PEntrez.MedGen.Entrez_Facets","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.Entrez_Database.Entrez_Facets","shortname":"Entrez_Facets"},
{"name":"EntrezSystem2.PEntrez.MedGen.Entrez_Clipboard","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.Entrez_Database.Entrez_Clipboard","shortname":"Entrez_Clipboard"},
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_StaticParts","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_StaticParts","shortname":"MedGen_StaticParts"},
{"name":"EntrezSystem2.PEntrez.MedGen.Entrez_Messages","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.Entrez_Database.Entrez_Messages","shortname":"Entrez_Messages"},
{"name":"EntrezSystem2.PEntrez.MedGen.NcbiJSCheck","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.Entrez_Database.NcbiJSCheck","shortname":"NcbiJSCheck"},
{"name":"EntrezSystem2.PEntrez.MedGen.NCBIFooter_dynamic","type":"Cluster","realname":"EntrezSystem2.PEntrez.MedGen.Entrez_Database.NCBIFooter_dynamic",
"children":[{"name":"EntrezSystem2.PEntrez.MedGen.NCBIFooter_dynamic.Footer_ExtraData","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.Entrez_Database.NCBIFooter_dynamic.Footer_ExtraData","shortname":"Footer_ExtraData"},
{"name":"EntrezSystem2.PEntrez.MedGen.NCBIFooter_dynamic.NCBIFooter_dynamic","type":"Cluster","realname":"EntrezSystem2.PEntrez.MedGen.Entrez_Database.NCBIFooter_dynamic.NCBIFooter_dynamic",
"children":[{"name":"EntrezSystem2.PEntrez.MedGen.NCBIFooter_dynamic.NCBIFooter_dynamic.NCBIBreadcrumbs","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.Entrez_Database.NCBIFooter_dynamic.NCBIFooter_dynamic.NCBIBreadcrumbs","shortname":"NCBIBreadcrumbs"},
{"name":"EntrezSystem2.PEntrez.MedGen.NCBIFooter_dynamic.NCBIFooter_dynamic.NCBIHelpDesk","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.Entrez_Database.NCBIFooter_dynamic.NCBIFooter_dynamic.NCBIHelpDesk","shortname":"NCBIHelpDesk"},
{"name":"EntrezSystem2.PEntrez.MedGen.NCBIFooter_dynamic.NCBIFooter_dynamic.NCBIApplog_NoScript_Ping","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.Entrez_Database.NCBIFooter_dynamic.NCBIFooter_dynamic.NCBIApplog_NoScript_Ping","shortname":"NCBIApplog_NoScript_Ping"}]}]},
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel","type":"Cluster","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel",
"children":[{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.blankToolPanel","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_ResultsPanel.blankToolPanel","shortname":"blankToolPanel"},
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_ResultsController","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_ResultsController","shortname":"MedGen_ResultsController"},
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_FiltersPortlet","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_FiltersPortlet","shortname":"MedGen_FiltersPortlet"},
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_Pager","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_ResultsPanel.Entrez_Pager","shortname":"Entrez_Pager"},
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar","shortname":"MedGen_DisplayBar"},
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HelpFormAttributes","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_ResultsPanel.HelpFormAttributes","shortname":"HelpFormAttributes"},
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_Collections","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_ResultsPanel.Entrez_Collections","shortname":"Entrez_Collections"},
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.SpellCheck","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_ResultsPanel.SpellCheck","shortname":"SpellCheck"},
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.SearchEngineReferralCheck","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_ResultsPanel.SearchEngineReferralCheck","shortname":"SearchEngineReferralCheck"},
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.WrongDbSensor","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_ResultsPanel.WrongDbSensor","shortname":"WrongDbSensor"},
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.KnowledgePanel","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_ResultsPanel.KnowledgePanel","shortname":"KnowledgePanel"},
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_ResultsPanel.HistoryDisplay","shortname":"HistoryDisplay"},
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Discovery_SearchDetails","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_ResultsPanel.Discovery_SearchDetails","shortname":"Discovery_SearchDetails"},
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.mg_GeneSensor","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.mg_GeneSensor","shortname":"mg_GeneSensor"},
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_ClinFeatureSearch","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_ClinFeatureSearch","shortname":"MedGen_ClinFeatureSearch"},
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVFull","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVFull","shortname":"MedGen_RVFull"},
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster","type":"Cluster","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster",
"children":[{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks","shortname":"MedGenDiscoveryDbLinks"},
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGen_SingleItemSupl","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGen_SingleItemSupl","shortname":"MedGen_SingleItemSupl"},
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews","shortname":"MedGenReviews"}]}]}]}]}]};
--></script>
<meta name='referrer' content='origin-when-cross-origin'/><link type="text/css" rel="stylesheet" href="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/css/3808861/3917732/3974050/3751656/3395415/4221762/14534/4062871/4186458/4075711/12930/4033350/4128070/3861632/4013176/4212357/4064428/4186491/9685/2279/3395586.css" /><link type="text/css" rel="stylesheet" href="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/css/3501913/1303451.css" media="print" /><script type="text/javascript">
var ObjectLinks=[{i:0, ename: "p$ExL", esid:"*", sname: "p$ExL", ssid:"*", dname:"p$el", dsid:"0",m:"CopyValue",p:[],f: function(src, dst) {fn_CopyValue(src, dst);}}]
var ActiveNames = {"p$ExL":1, "EntrezSystem2.PEntrez.DbConnector.Cmd":0, "EntrezSystem2.PEntrez.DbConnector.Db":0, "EntrezSystem2.PEntrez.DbConnector.IdsFromResult":0, "EntrezSystem2.PEntrez.DbConnector.LastDb":0, "EntrezSystem2.PEntrez.DbConnector.LastIdsFromResult":0, "EntrezSystem2.PEntrez.DbConnector.LastQueryKey":0, "EntrezSystem2.PEntrez.DbConnector.LastTabCmd":0, "EntrezSystem2.PEntrez.DbConnector.LinkName":0, "EntrezSystem2.PEntrez.DbConnector.LinkReadableName":0, "EntrezSystem2.PEntrez.DbConnector.LinkSrcDb":0, "EntrezSystem2.PEntrez.DbConnector.QueryKey":0, "EntrezSystem2.PEntrez.DbConnector.TabCmd":0, "EntrezSystem2.PEntrez.DbConnector.Term":0, "EntrezSystem2.PEntrez.MedGen.MedGen_PageController.PreviousPageName":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryOn":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.Display":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.FFormat":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.FileFormat":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.Format":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.LastFormat":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.LastPageSize":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.LastPresentation":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.PageSize":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.Presentation":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.PrevPageSize":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.PrevPresentation":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.PrevSort":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.SendTo":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.SendToSubmit":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.SetDisplay":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.sPresentation":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_ResultsController.ResultCount":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_ResultsController.RunLastQuery":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter":0};
</script></head>
<body>
<div class="grid">
<div class="col twelve_col nomargin shadow">
<form enctype="application/x-www-form-urlencoded" name="EntrezForm" method="post" onsubmit="return false;" action="/medgen" id="EntrezForm">
<div xmlns:xi="http://www.w3.org/2001/XInclude">
<!-- no javascript message -->
<noscript>
<p class="nojs">
<strong>Warning:</strong>
The NCBI web site requires JavaScript to function.
<a href="/guide/browsers/#enablejs" title="Learn how to enable JavaScript" target="_blank">more...</a>
</p>
</noscript>
<div xmlns="http://www.w3.org/1999/xhtml" id="universal_header" xml:base="http://127.0.0.1/sites/static/header_footer/">
<section class="usa-banner">
<div class="usa-accordion">
<header class="usa-banner-header">
<div class="usa-grid usa-banner-inner">
<img src="https://www.ncbi.nlm.nih.gov/coreutils/uswds/img/favicons/favicon-57.png" alt="U.S. flag" />
<p>An official website of the United States government</p>
<button class="non-usa-accordion-button usa-banner-button" aria-expanded="false" aria-controls="gov-banner-top" type="button">
<span class="usa-banner-button-text">Here's how you know</span>
</button>
</div>
</header>
<div class="usa-banner-content usa-grid usa-accordion-content" id="gov-banner-top" aria-hidden="true">
<div class="usa-banner-guidance-gov usa-width-one-half">
<img class="usa-banner-icon usa-media_block-img" src="https://www.ncbi.nlm.nih.gov/coreutils/uswds/img/icon-dot-gov.svg" alt="Dot gov" />
<div class="usa-media_block-body">
<p>
<strong>The .gov means it's official.</strong>
<br />
Federal government websites often end in .gov or .mil. Before
sharing sensitive information, make sure you're on a federal
government site.
</p>
</div>
</div>
<div class="usa-banner-guidance-ssl usa-width-one-half">
<img class="usa-banner-icon usa-media_block-img" src="https://www.ncbi.nlm.nih.gov/coreutils/uswds/img/icon-https.svg" alt="Https" />
<div class="usa-media_block-body">
<p>
<strong>The site is secure.</strong>
<br />
The <strong>https://</strong> ensures that you are connecting to the
official website and that any information you provide is encrypted
and transmitted securely.
</p>
</div>
</div>
</div>
</div>
</section>
<div class="usa-overlay"></div>
<header class="ncbi-header" role="banner" data-section="Header">
<div class="usa-grid">
<div class="usa-width-one-whole">
<div class="ncbi-header__logo">
<a href="/" class="logo" aria-label="NCBI Logo" data-ga-action="click_image" data-ga-label="NIH NLM Logo">
<img src="https://www.ncbi.nlm.nih.gov/coreutils/nwds/img/logos/AgencyLogo.svg" alt="NIH NLM Logo" />
</a>
</div>
<div class="ncbi-header__account">
<a id="account_login" href="https://account.ncbi.nlm.nih.gov" class="usa-button header-button" style="display:none" data-ga-action="open_menu" data-ga-label="account_menu">Log in</a>
<button id="account_info" class="header-button" style="display:none" aria-controls="account_popup" type="button">
<span class="fa fa-user" aria-hidden="true">
<svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 24 24" width="20px" height="20px">
<g style="fill: #fff">
<ellipse cx="12" cy="8" rx="5" ry="6"></ellipse>
<path d="M21.8,19.1c-0.9-1.8-2.6-3.3-4.8-4.2c-0.6-0.2-1.3-0.2-1.8,0.1c-1,0.6-2,0.9-3.2,0.9s-2.2-0.3-3.2-0.9 C8.3,14.8,7.6,14.7,7,15c-2.2,0.9-3.9,2.4-4.8,4.2C1.5,20.5,2.6,22,4.1,22h15.8C21.4,22,22.5,20.5,21.8,19.1z"></path>
</g>
</svg>
</span>
<span class="username desktop-only" aria-hidden="true" id="uname_short"></span>
<span class="sr-only">Show account info</span>
</button>
</div>
<div class="ncbi-popup-anchor">
<div class="ncbi-popup account-popup" id="account_popup" aria-hidden="true">
<div class="ncbi-popup-head">
<button class="ncbi-close-button" data-ga-action="close_menu" data-ga-label="account_menu" type="button">
<span class="fa fa-times">
<svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 48 48" width="24px" height="24px">
<path d="M38 12.83l-2.83-2.83-11.17 11.17-11.17-11.17-2.83 2.83 11.17 11.17-11.17 11.17 2.83 2.83 11.17-11.17 11.17 11.17 2.83-2.83-11.17-11.17z"></path>
</svg>
</span>
<span class="usa-sr-only">Close</span></button>
<h4>Account</h4>
</div>
<div class="account-user-info">
Logged in as:<br />
<b><span class="username" id="uname_long">username</span></b>
</div>
<div class="account-links">
<ul class="usa-unstyled-list">
<li><a id="account_myncbi" href="/myncbi/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_myncbi">Dashboard</a></li>
<li><a id="account_pubs" href="/myncbi/collections/bibliography/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_pubs">Publications</a></li>
<li><a id="account_settings" href="/account/settings/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_settings">Account settings</a></li>
<li><a id="account_logout" href="/account/signout/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_logout">Log out</a></li>
</ul>
</div>
</div>
</div>
</div>
</div>
</header>
<div role="navigation" aria-label="access keys">
<a id="nws_header_accesskey_0" href="https://www.ncbi.nlm.nih.gov/guide/browsers/#ncbi_accesskeys" class="usa-sr-only" accesskey="0" tabindex="-1">Access keys</a>
<a id="nws_header_accesskey_1" href="https://www.ncbi.nlm.nih.gov" class="usa-sr-only" accesskey="1" tabindex="-1">NCBI Homepage</a>
<a id="nws_header_accesskey_2" href="/myncbi/" class="set-base-url usa-sr-only" accesskey="2" tabindex="-1">MyNCBI Homepage</a>
<a id="nws_header_accesskey_3" href="#maincontent" class="usa-sr-only" accesskey="3" tabindex="-1">Main Content</a>
<a id="nws_header_accesskey_4" href="#" class="usa-sr-only" accesskey="4" tabindex="-1">Main Navigation</a>
</div>
<section data-section="Alerts">
<div class="ncbi-alerts-placeholder"></div>
</section>
</div>
<div class="header">
<!-- logo -->
<div class="res_logo" id="gene-top">
<h1 class="res_name"><a href="/medgen">MedGen</a></h1>
<h2 class="res_tagline">National Center for Biotechnology Information</h2>
</div>
<!-- SearchBar -->
<div class="search"><div class="search_form"><label for="database" class="offscreen_noflow">Search database</label><select id="database"><optgroup label="Recent"><option value="pubmed" data-ac_dict="pm_related_queries_2">PubMed</option><option value="books">Books</option><option value="medgen" selected="selected" data-ac_dict="medgen_disease_name">MedGen</option><option value="gene" class="last">Gene</option></optgroup><optgroup label="All"><option value="gquery">All Databases</option><option value="assembly">Assembly</option><option value="biocollections">Biocollections</option><option value="bioproject">BioProject</option><option value="biosample">BioSample</option><option value="books">Books</option><option value="clinvar">ClinVar</option><option value="cdd">Conserved Domains</option><option value="gap">dbGaP</option><option value="dbvar">dbVar</option><option value="gene">Gene</option><option value="genome">Genome</option><option value="gds">GEO DataSets</option><option value="geoprofiles">GEO Profiles</option><option value="gtr">GTR</option><option value="ipg">Identical Protein Groups</option><option value="medgen" data-ac_dict="medgen_disease_name">MedGen</option><option value="mesh" data-ac_dict="mesh_suggestions">MeSH</option><option value="nlmcatalog">NLM Catalog</option><option value="nuccore">Nucleotide</option><option value="omim">OMIM</option><option value="pmc">PMC</option><option value="protein">Protein</option><option value="proteinclusters">Protein Clusters</option><option value="protfam">Protein Family Models</option><option value="pcassay">PubChem BioAssay</option><option value="pccompound">PubChem Compound</option><option value="pcsubstance">PubChem Substance</option><option value="pubmed" data-ac_dict="pm_related_queries_2">PubMed</option><option value="snp">SNP</option><option value="sra">SRA</option><option value="structure">Structure</option><option value="taxonomy">Taxonomy</option><option value="toolkit">ToolKit</option><option value="toolkitall">ToolKitAll</option><option value="toolkitbookgh">ToolKitBookgh</option></optgroup></select><div class="nowrap"><label for="term" class="offscreen_noflow" accesskey="/">Search term</label><div class="nowrap"><input type="text" name="term" id="term" title="Search MedGen. Use up and down arrows to choose an item from the autocomplete." value="" class="jig-ncbiclearbutton jig-ncbiautocomplete" data-jigconfig="dictionary:'medgen_disease_name',disableUrl:'NcbiSearchBarAutoComplCtrl'" autocomplete="off" data-sbconfig="ds:'no',pjs:'yes',afs:'yes'" /></div><button id="search" type="submit" class="button_search nowrap" cmd="go">Search</button></div></div><ul class="searchlinks inline_list"><set></set><li><a sid="1" href="/medgen/limits">Limits</a></li><li><a href="/medgen/advanced">Advanced</a></li><li class="help"><a id="help" class="jig-ncbihelpwindow" target="ncbihelp" name="help" href="/medgen/docs/help">Help</a></li></ul></div>
</div>
<input name="EntrezSystem2.PEntrez.MedGen.MedGen_PageController.PreviousPageName" sid="1" type="hidden" value="results" />
<div id="maincontent" class="col nine_col">
<div class="content">
<div>
</div>
<div class="results_settings one_setting"><ul class="inline_list left display_settings"><li><a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.Display" sid="0" href="#" class="jig-ncbipopper" data-jigconfig="triggerPosition : 'bottom center',destPosition : 'top center',destSelector : '#display_settings_menu_report', hasArrow : false,openEvent : 'click',closeEvent : 'click',isTriggerElementCloseClick: false,addCloseButton : false, groupName: 'entrez_pg'" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.Display">Full Report<span href="#" class="tgt_dark"></span></a></li></ul><div id="display_settings_menu_report" class="disp_settings tabPopper"><fieldset class="format"><legend>Format</legend><ul class="column_list"><li><input type="radio" name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.sPresentation" sid="1" value="FullReport" format="" id="FullReport" checked="true" /><label for="FullReport">Full Report</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.sPresentation" sid="2" value="FullReport" format="text" id="FullReporttext" /><label for="FullReporttext">Summary (Text)</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.sPresentation" sid="3" value="XML" format="text" id="XMLtext" /><label for="XMLtext">Summary (XML)</label></li></ul></fieldset></div><button name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.SetDisplay" sid="1" class="button_apply ncbipopper-close-button" style="display:none">Apply</button><h4 class="content_header send_to align_right jig-ncbipopper" id="sendto" data-jigconfig="triggerPosition:'bottom center', destPosition : 'top center',destSelector : '#send_to_menu', hasArrow : false, openEvent : 'click',closeEvent : 'click', isTriggerElementCloseClick: false, addCloseButton:true, groupName: 'entrez_pg', adjustFit:'none'"><a href="#" sourceContent="send_to_menu" class="tgt_dark">Send to:</a><script type="text/javascript">
jQuery(document).ready( function () {
jQuery("#send_to_menu input[type='radio']").click( function () {
var selectedValue = jQuery(this).val().toLowerCase();
var selectedDiv = jQuery("#send_to_menu div." + selectedValue);
if(selectedDiv.is(":hidden")){
jQuery("#send_to_menu div.submenu:visible").slideUp();
selectedDiv.slideDown();
}
});
});
jQuery("#sendto").bind("ncbipopperclose", function(){
jQuery("#send_to_menu div.submenu:visible").css("display","none");
jQuery("#send_to_menu input[type='radio']:checked").attr("checked",false);
});
</script></h4><div id="send_to_menu" class="tabPopper send_to"><fieldset><legend>Choose Destination</legend><ul class="column_list"><li><input type="radio" name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.SendTo" sid="1" value="File" id="dest_File" /><label for="dest_File">File</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.SendTo" sid="2" value="AddToClipboard" id="dest_AddToClipboard" /><label for="dest_AddToClipboard">Clipboard</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.SendTo" sid="3" value="AddToCollections" id="dest_AddToCollections" /><label for="dest_AddToCollections">Collections</label></li></ul></fieldset><div class="submenu file" id="submenu_File" style="display: none;"><p id="submenu_File_hint" class="hidden"></p><ul><li><label for="file_format">Format</label><select id="file_format" name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.FFormat" sid="1"><option value="FullReport" format="text" selected="selected">Summary (Text)</option><option value="XML" format="text">Summary (XML)</option></select></li></ul><button name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.SendToSubmit" sid="1" class="button_apply file ncbipopper-close-button" type="submit" cmd="File">Create File</button></div><div class="submenu addtoclipboard" id="submenu_AddToClipboard" style="display: none;"><p id="submenu_AddToClipboard_hint" class="hidden"></p><button name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.SendToSubmit" sid="2" class="button_apply clipboard ncbipopper-close-button" type="submit" cmd="AddToClipboard">Add to Clipboard</button></div><div class="submenu addtocollections" id="submenu_AddToCollections" style="display: none;"><p id="submenu_AddToCollections_hint" class="hidden"></p><button name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.SendToSubmit" sid="3" class="button_apply collections ncbipopper-close-button" type="submit" cmd="AddToCollections">Add to Collections</button></div></div><div><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.FileFormat" sid="1" type="hidden" value="FullReport" /><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.LastPresentation" sid="1" type="hidden" value="FullReport" /><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.Presentation" sid="1" type="hidden" value="FullReport" /><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.PageSize" sid="1" type="hidden" value="20" /><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.LastPageSize" sid="1" type="hidden" value="20" /><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.Format" sid="1" type="hidden" value="" /><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.LastFormat" sid="1" type="hidden" value="" /><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.PrevPageSize" sid="1" type="hidden" value="20" /><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.PrevPresentation" sid="1" type="hidden" value="FullReport" /><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.PrevSort" sid="1" type="hidden" value="" /><input type="hidden" id="coll_startindex" name="CollectionStartIndex" value="1" /></div></div>
<div class="">
<div><span id="result_sel" class="nowrap"></span><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_ResultsController.ResultCount" sid="1" type="hidden" id="resultcount" value="1" /><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_ResultsController.RunLastQuery" sid="1" type="hidden" /></div>
</div>
<div id="messagearea" class="empty">
</div>
<div><div class="rprt full-rprt"><div class="portlet" style="border-top-style: none; margin-top: 0px; padding-top: 0px; margin-bottom: 0px; padding-left: 0.2em;">
<!--
UID=305607
ConceptID=C1698196
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Upper limb muscle weakness</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>305607</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1698196</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>Muscle weakness of the upper limbs; Muscle weakness, upper limbs</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Muscle weakness of upper limb (713512009)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0003484">HP:0003484</a></td></tr>
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
<div class="portlet mgSection" id="ID_100">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">Weakness of the muscles of the arms. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
</div>
<div class="portlet mgSection" id="ID_118">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Upper limb muscle weakness</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/536898" ref="tree=MeSH" title="MedGen record for Abnormality of limbs">Abnormality of limbs</a></span><ul><li><span class="TLline"><a href="/medgen/870150" ref="tree=MeSH" title="MedGen record for Abnormality of the musculature of the limbs">Abnormality of the musculature of the limbs</a></span><ul><li><span class="TLline"><a href="/medgen/107956" ref="tree=MeSH" title="MedGen record for Limb muscle weakness">Limb muscle weakness</a></span><ul><li><span class="matched_ds">Upper limb muscle weakness</span><ul><li><span class="TLline"><a href="/medgen/533950" ref="tree=MeSH" title="MedGen record for Wrist drop">Wrist drop</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
</div>
<div class="portlet mgSection" id="ID_112">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat">
<div class="divPopper rprt" id="rdis_316946"><div><strong>Charcot-Marie-Tooth disease type 2D</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>316946</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1832274</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The phenotypic spectrum of GARS1-associated axonal neuropathy ranges from GARS1 infantile-onset SMA (GARS1-iSMA) to GARS1 adolescent- or early adult-onset hereditary motor/sensory neuropathy (GARS1-HMSN). GARS1-iSMA. Age of onset ranges from the neonatal period to the toddler years. Initial manifestations are typically respiratory distress, poor feeding, and muscle weakness (distal greater than proximal). Weakness is slowly progressive, ultimately requiring mechanical ventilation and feeding via gastrostomy tube. GARS1-HMSN. Age of onset is most commonly during the second decade (range eight to 36 years). Initial manifestations are typically muscle weakness in the hands sometimes with sensory deficits. Lower limb involvement (seen in ~50% of individuals) ranges from weakness and atrophy of the extensor digitorum brevis and weakness of toe dorsiflexors to classic peroneal muscular atrophy with foot drop and a high steppage gait.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/316946">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_318838"><div><strong>Neuronopathy, distal hereditary motor, type 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>318838</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1833308</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Autosomal dominant distal hereditary motor neuronopathy-5 (HMND5), also known as distal hereditary motor neuronopathy type VA (dHMN5A or HMN5A), is a neuromuscular disorder characterized by onset of distal muscle weakness and atrophy predominantly affecting the upper limbs in the first few decades of life. The disorder is slowly progressive, and most patients eventually have lower limb involvement with foot deformities. Although sensory impairment is uncommon, some patients show this feature, illustrating the phenotypic overlap with CMT2D. Rare patients may have pyramidal signs or hyperreflexia (summary by Christodoulou et al., 1995 and Dubourg et al., 2006). For a discussion of genetic heterogeneity of autosomal dominant distal HMN, see HMND1 (182960).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/318838">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_324487"><div><strong>Charcot-Marie-Tooth disease type 4H</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324487</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1836336</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy. It has been described in 10 individuals from two large consanguineous families from Lebanon and Algeria. Onset occurs within the first two years of life with slowly progressive muscle weakness in the distal extremities. Other common features include delayed walking, an abnormal gait, scoliosis and pes equines with toe retraction. CMT4H is caused by mutations in the FGD4 gene (12p11.1). Transmitted in an autosomal recessive manner.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/324487">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_373138"><div><strong>Hereditary spastic paraplegia 26</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373138</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1836632</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">SPG26 is an autosomal recessive form of complicated spastic paraplegia characterized by onset in the first 2 decades of life of gait abnormalities due to lower limb spasticity and muscle weakness. Some patients have upper limb involvement. Additional features include intellectual disability, peripheral neuropathy, dysarthria, cerebellar signs, extrapyramidal signs, and cortical atrophy. The disorder is slowly progressive (summary by Boukhris et al., 2013). For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (270800).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/373138">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_334012"><div><strong>Charcot-Marie-Tooth disease recessive intermediate A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334012</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1842197</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">GDAP1-related hereditary motor and sensory neuropathy (GDAP1-HMSN) is a peripheral neuropathy (also known as a subtype of Charcot-Marie-Tooth disease) that typically affects the lower extremities earlier and more severely than the upper extremities. As the neuropathy progresses, the distal upper extremities also become severely affected. Proximal muscles can also become weak. Age at onset ranges from infancy to early childhood. In most cases, disease progression causes disabilities within the first or second decade of life. At the end of the second decade, most individuals are wheelchair bound. Disease progression varies considerably even within the same family. The neuropathy can be either of the demyelinating type with reduced nerve conduction velocities or the axonal type with normal nerve conduction velocities. Vocal cord paresis is common. Intelligence is normal. Life expectancy is usually normal, but on occasion may be reduced because of secondary complications.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/334012">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_334023"><div><strong>Charcot-Marie-Tooth disease dominant intermediate C</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334023</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1842237</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibers, segmental remyelination, and no onion bulbs.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/334023">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_334318"><div><strong>Charcot-Marie-Tooth disease dominant intermediate D</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334318</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1843075</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A rare hereditary motor and sensory neuropathy with characteristics of intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/334318">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_334709"><div><strong>Charcot-Marie-Tooth disease type 1D</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334709</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1843247</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">For a phenotypic description and a discussion of genetic heterogeneity of autosomal dominant Charcot-Marie-Tooth disease type 1, see CMT1B (118200).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/334709">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_375530"><div><strong>Charcot-Marie-Tooth disease X-linked recessive 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375530</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1844865</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A rare genetic peripheral sensorimotor neuropathy with an X-linked recessive inheritance pattern and the childhood to adolescent-onset of progressive, distal muscle weakness and atrophy (beginning in the lower extremities and then affecting the upper extremities), as well as distal, pan sensory loss in the upper and lower extremities, pes cavus, and absent or reduced distal tendon reflexes. Pain and paraesthesia are frequently the initial sensory symptoms. Spastic paraparesis (manifested by clasp-knife sign, hyperactive deep-tendon reflexes, and Babinski sign) has also been reported.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/375530">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_336803"><div><strong>Charcot-Marie-Tooth disease X-linked recessive 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336803</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1844873</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A rare genetic peripheral sensorimotor neuropathy with an X-linked recessive inheritance pattern and the infantile to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability has been reported in some individuals.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/336803">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_339552"><div><strong>Hereditary spastic paraplegia 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>339552</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1846564</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Spastic paraplegia 7 (SPG7) is characterized by insidiously progressive bilateral leg weakness and spasticity. Most affected individuals have decreased vibration sense and cerebellar signs. Onset is mostly in adulthood, although symptoms may start as early as age 11 years and as late as age 72 years. Additional features including ataxia (gait and limbs), spastic dysarthria, dysphagia, pale optic disks, ataxia, nystagmus, strabismus, ptosis, hearing loss, motor and sensory neuropathy, amyotrophy, scoliosis, pes cavus, and urinary sphincter disturbances may be observed.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/339552">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_376521"><div><strong>Hereditary spastic paraplegia 5A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376521</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1849115</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Spastic paraplegia-5A (SPG5A) is an autosomal recessive neurologic disorder with a wide phenotypic spectrum. Some patients have pure spastic paraplegia affecting only gait, whereas others may have a complicated phenotype with additional manifestations, including optic atrophy or cerebellar ataxia (summary by Arnoldi et al., 2012). The hereditary spastic paraplegias (SPG) are a group of clinically and genetically diverse disorders characterized by progressive, usually severe, lower extremity spasticity; see reviews of Fink et al. (1996) and Fink (1997). Inheritance is most often autosomal dominant (see 182600), but X-linked (see 303350) and autosomal recessive forms also occur. Genetic Heterogeneity of Autosomal Recessive Spastic Paraplegia Autosomal recessive forms of SPG include SPG7 (607259), caused by mutation in the paraplegin gene (602783) on chromosome 16q24; SPG9B (616586), caused by mutation in the ALDH18A1 gene (138250) on 10q24; SPG11 (604360), caused by mutation in the spatacsin gene (610844) on 15q21; SPG15 (270700), caused by mutation in the ZFYVE26 gene (612012) on 14q24; SPG18 (611225), caused by mutation in the ERLIN2 gene (611605) on 8p11; SPG20 (275900), caused by mutation in the spartin gene (607111) on 13q12; SPG21 (248900), caused by mutation in the maspardin gene (608181) on 15q21; SPG26 (609195), caused by mutation in the B4GALNT1 gene (601873) on 12q13; SPG28 (609340), caused by mutation in the DDHD1 gene (614603) on 14q22; SPG30 (610357), caused by mutation in the KIF1A gene (601255) on 2q37; SPG35 (612319), caused by mutation in the FA2H gene (611026) on 16q23; SPG39 (612020), caused by mutation in the PNPLA6 gene (603197) on 19p13; SPG43 (615043), caused by mutation in the C19ORF12 gene (614297) on 19q12; SPG44 (613206), caused by mutation in the GJC2 gene (608803) on 1q42; SPG45 (613162), caused by mutation in the NT5C2 gene (600417) on 10q24; SPG46 (614409), caused by mutation in the GBA2 gene (609471) on 9p13; SPG48 (613647), caused by mutation in the KIAA0415 gene (613653) on 7p22; SPG50 (612936), caused by mutation in the AP4M1 gene (602296) on 7q22; SPG51 (613744), caused by mutation in the AP4E1 gene (607244) on 15q21; SPG52 (614067), caused by mutation in the AP4S1 gene (607243) on 14q12; SPG53 (614898), caused by mutation in the VPS37A gene (609927) on 8p22; SPG54 (615033), caused by mutation in the DDHD2 gene (615003) on 8p11; SPG55 (615035), caused by mutation in the MTRFR gene on 12q24; SPG56 (615030), caused by mutation in the CYP2U1 gene (610670) on 4q25; SPG57 (615658), caused by mutation in the TFG gene (602498) on 3q12; SPG61 (615685), caused by mutation in the ARL6IP1 gene (607669) on 1p12; SPG62 (615681), caused by mutation in the ERLIN1 gene on 10q24; SPG63 (615686), caused by mutation in the AMPD2 gene (102771) on 1p13; SPG64 (615683), caused by mutation in the ENTPD1 gene (601752) on 10q24; SPG72 (615625), caused by mutation in the REEP2 gene (609347) on 5q31; SPG74 (616451), caused by mutation in the IBA57 gene (615316) on 1q42; SPG75 (616680), caused by mutation in the MAG gene (159460) on 19q13; SPG76 (616907), caused by mutation in the CAPN1 gene (114220) on 11q13; SPG77 (617046), caused by mutation in the FARS2 gene (611592) on 6p25; SPG78 (617225), caused by mutation in the ATP13A2 gene (610513) on 1p36; SPG79 (615491), caused by mutation in the UCHL1 gene (191342) on 4p13; SPG81 (618768), caused by mutation in the SELENOI gene (607915) on 2p23; SPG82 (618770), caused by mutation in the PCYT2 gene (602679) on 17q25; SPG83 (619027), caused by mutation in the HPDL gene (618994) on 1p34; SPG84 (619621), caused by mutation in the PI4KA gene (600286) on 22q11; SPG85 (619686), caused by mutation in the RNF170 gene (614649) on 8p11; SPG86 (619735), caused by mutation in the ABHD16A gene (142620) on 6p21; SPG87 (619966), caused by mutation in the TMEM63C gene (619953) on 14q24; SPG89 (620379), caused by mutation in the AMFR gene (603243) on 16q13; SPG90B (620417), caused by mutation in the SPTSSA gene (613540) on 14q13; SPG92 (620911), caused by mutation in the FICD gene (620875) on chromosome 12q23; and SPG93 (620938), caused by mutation in the NFU1 gene (608100) on chromosome 2p13. Additional autosomal recessive forms of SPG have been mapped to chromosomes 3q (SPG14; 605229), 13q14 (SPG24; 607584), 6q (SPG25; 608220), and 10q22 (SPG27; 609041). A disorder that was formerly designated SPG49 has been reclassified as hereditary sensory and autonomic neuropathy-9 with developmental delay (HSAN9; 615031).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/376521">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_343979"><div><strong>Nemaline myopathy 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343979</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1853154</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Nemaline myopathy-7 is an autosomal recessive congenital myopathy characterized by very early onset of hypotonia and delayed motor development. Affected individuals have difficulty walking and running due to proximal muscle weakness. The disorder is slowly progressive, and patients may lose independent ambulation. Muscle biopsy shows nemaline rods and may later show minicores, abnormal protein aggregates, and dystrophic changes (summary by Ockeloen et al., 2012). For a discussion of genetic heterogeneity of nemaline myopathy, see 161800.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/343979">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_343064"><div><strong>Charcot-Marie-Tooth disease type 2B1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343064</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1854154</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Charcot-Marie-Tooth disease constitutes a clinically and genetically heterogeneous group of hereditary motor and sensory neuropathies. On the basis of electrophysiologic criteria, CMT is divided into 2 major types: type 1, the demyelinating form, characterized by a motor median nerve conduction velocity less than 38 m/s (see CMT1B; 118200); and type 2, the axonal form, with a normal or slightly reduced nerve conduction velocity. For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT type 2, see CMT2A1 (118210).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/343064">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_349003"><div><strong>Hereditary spastic paraplegia 10</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>349003</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1858712</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Spastic paraplegia-10 (SPG10) is an autosomal dominant neurologic disorder with variable manifestations. Some patients have onset of a 'pure' spastic paraplegia, with lower limb spasticity, hyperreflexia, extensor plantar responses, and variable involvement of the upper limbs beginning in childhood or young adulthood. Some patients show distal sensory impairment, which can be part of the 'pure' phenotype. However, some patients also show an axonal sensorimotor peripheral neuropathy with distal sensory impairment and distal muscle atrophy reminiscent of Charcot-Marie-Tooth disease type 2 (see, e.g., CMT2A, 118210). Rarely, patients with KIF5A mutations may have additional neurologic features, including parkinsonism or cognitive decline, consistent with a 'complicated' phenotype. Spastic paraplegia and peripheral neuropathy in isolation may represent extreme ends of the phenotypic spectrum of KIF5A mutations (summary by Goizet et al., 2009 and Crimella et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (182600).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/349003">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_356265"><div><strong>Monomelic amyotrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356265</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1865384</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Monomelic amyotrophy, also known as Hirayama disease, is characterized by insidious onset of weakness and wasting of the muscles of the hand and forearm. It is usually unilateral, but can be bilateral. It occurs most commonly as a sporadic condition, is most common in young men, and follows a relatively benign course after a few years of progression (Nalini et al., 2004; Misra et al., 2005).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/356265">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_356581"><div><strong>Charcot-Marie-Tooth disease type 4C</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356581</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1866636</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">SH3TC2-related hereditary motor and sensory neuropathy (SH3TC2-HMSN) is a demyelinating neuropathy characterized by severe spine deformities (scoliosis or kyphoscoliosis) and foot deformities (pes cavus, pes planus, or pes valgus) that typically present in the first decade of life or early adolescence. Other findings can include cranial nerve involvement (most commonly tongue involvement, facial weakness/paralysis, hearing impairment, dysarthria) and respiratory problems.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/356581">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_356618"><div><strong>Neuronopathy, distal hereditary motor, autosomal dominant 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356618</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1866784</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Distal hereditary motor neuronopathy (dHMN or HMN) is a heterogeneous group of neuromuscular disorders caused by anterior horn cell degeneration and characterized by progressive distal motor weakness and muscular atrophy of the peripheral nervous system without sensory impairment. Distal HMN is also referred to as spinal Charcot-Marie-Tooth disease (spinal CMT). Distal HMN is often referred to as a 'neuronopathy' instead of a 'neuropathy' based on the hypothesis that the primary pathologic process resides in the neuron cell body and not in the axons (Irobi et al., 2006). Historically, Harding (1993) proposed a clinical classification of distal HMN into 7 phenotypic subtypes according to age at onset, mode of inheritance, and presence of additional features; see NOMENCLATURE. Genetic Heterogeneity of Autosomal Dominant Distal Hereditary Motor Neuronopathy Genetically distinct forms of autosomal dominant distal hereditary motor neuropathy include HMND1; HMND2 (158590), caused by mutation in the HSPB8 gene (608014); HMND3 (608634), caused by mutation in the HSPB1 gene (602195); HMND4 (613376), caused by mutation in the HSPB3 gene (604624); HMND5 (600794), caused by mutation in the GARS gene (600287); HMND6 (615575), caused by mutation in the FBXO38 gene (608533); HMND7 (158580), caused by mutation in the SLC5A7 gene (608761); HMND8 (600175), caused by mutation in the TRPV4 gene (605427); HMND9 (617721), caused by mutation in the WARS gene (191050); HMND10 (620080), caused by mutation in the EMILIN1 gene (130660); HMND11 (620528), caused by mutation in the SPTAN1 gene (182810); HMND12 (614751), caused by mutation in the REEP1 gene (609139); HMND13 (619112), caused by mutation in the BSCL2 gene (606158); HMND14 (607641), caused by mutation in the DCTN1 gene (601143); and HMND15 (621094), caused by mutation in the BAG3 gene (603883). See also X-linked HMN (HMNX; 300489), caused by mutation in the ATP7A gene (300011) on chromosome Xq21. Additional disorders with overlapping features include autosomal dominant ALS4 (602433), caused by mutation in the SETX gene (608465); and CMS7A (616040), caused by mutation in the SYT2 gene (600104).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/356618">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_413043"><div><strong>Congenital muscular dystrophy due to LMNA mutation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>413043</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2750785</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">LMNA-related congenital muscular dystrophy (L-CMD) is a condition that primarily affects muscles used for movement (skeletal muscles). It is part of a group of genetic conditions called congenital muscular dystrophies, which cause weak muscle tone (hypotonia) and muscle wasting (atrophy) beginning very early in life.\n\nIn people with L-CMD, muscle weakness becomes apparent in infancy or early childhood and can worsen quickly. The most severely affected infants develop few motor skills, and they are never able to hold up their heads, roll over, or sit. Less severely affected children may learn to sit, stand, and walk before muscle weakness becomes apparent. First the neck muscles weaken, causing the head to fall forward (dropped-head syndrome). As other skeletal muscles become weaker, these children may ultimately lose the ability to sit, stand, and walk unassisted.\n\nOther features of L-CMD often include spinal rigidity and abnormal curvature of the spine (scoliosis and lordosis); joint deformities (contractures) that restrict movement, particularly in the hips and legs; and an inward-turning foot. People with L-CMD also have an increased risk of heart rhythm abnormalities (arrhythmias).\n\nOver time, muscle weakness causes most infants and children with L-CMD to have trouble eating and breathing. The breathing problems result from restrictive respiratory insufficiency, which occurs when muscles in the chest are weakened and the ribcage becomes increasingly rigid. This problem can be life-threatening, and many affected children require support with a machine to help them breathe (mechanical ventilation).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/413043">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_419336"><div><strong>Congenital myasthenic syndrome 1A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419336</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2931107</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic, as well as by pathologic mechanism and electrophysiologic studies (i.e., acetylcholine receptor (AChR) deficiency, slow-channel or fast-channel kinetic defects at the AChR) (summary by Engel et al., 2003; Engel et al., 2015). Approximately 10% of CMS cases are presynaptic, 15% are synaptic, and 75% are postsynaptic, the majority of which are caused by AChR deficiency (Engel et al., 2003). Slow-channel congenital myasthenic syndrome (SCCMS) is a disorder of the postsynaptic NMJ characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the AChR channel, specifically prolonged opening and activity of the channel, which causes prolonged synaptic currents resulting in a depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. Treatment with quinine, quinidine, or fluoxetine may be helpful; acetylcholinesterase inhibitors and amifampridine should be avoided (summary by Engel et al., 2015). Genetic Heterogeneity of Congenital Myasthenic Syndromes Recessive mutations in subunits of the acetylcholine receptor are the most common cause of CMS (Harper, 2004). CMS1A and CMS1B (608930) are caused by mutation in the CHRNA1 gene (100690); CMS2A (616313) and CMS2C (616314) are caused by mutation in the CHRNB1 gene (100710) on 17p12; CMS3A (616321), CMS3B (616322), and CMS3C (616323) are caused by mutation in the CHRND gene (100720) on 2q33; and CMS4A (605809), CMS4B (616324), and CMS4C (608931) are caused by mutation in the CHRNE gene (100725) on 17p13. CMS5 (603034) is caused by mutation in the COLQ gene (603033) on 3p25; CMS6 (254210) is caused by mutation in the CHAT gene (118490) on 10q; CMS7 (616040) is caused by mutation in the SYT2 gene (600104) on 1q32; CMS8 (615120) is caused by mutation in the AGRN gene (103320) on 1p; CMS9 (616325) is caused by mutation in the MUSK gene (601296) on 9q31; CMS10 (254300) is caused by mutation in the DOK7 gene (610285) on 4p; CMS11 (616326) is caused by mutation in the RAPSN gene (601592) on 11p11; CMS12 (610542) is caused by mutation in the GFPT1 gene (138292) on 2p14; CMS13 (614750) is caused by mutation in the DPAGT1 gene (191350) on 11q23; CMS14 (616228) is caused by mutation in the ALG2 gene (607905) on 9q22; CMS15 (616227) is caused by mutation in the ALG14 gene (612866) on 1p21; CMS16 (614198) is caused by mutation in the SCN4A gene (603967) on 17q; CMS17 (616304) is caused by mutation in the LRP4 gene (604270) on 11p12; CMS18 (616330) is caused by mutation in the SNAP25 gene (600322) on 20p11; CMS19 (616720) is caused by mutation in the COL13A1 gene (120350) on 10q22; CMS20 (617143) is caused by mutation in the SLC5A7 gene (608761) on 2q12; CMS21 (617239) is caused by mutation in the SLC18A3 gene (600336) on 10q11; CMS22 (616224) is caused by mutation in the PREPL gene (609557) on 2p21; CMS23 (618197) is caused by mutation in the SLC25A1 gene (190315) on 22q11; CMS24 (618198) is caused by mutation in the MYO9A gene (604875) on 15q22; and CMS25 (618323) is caused by mutation in the VAMP1 gene (185880) on 12p13.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/419336">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_811329"><div><strong>Charcot-Marie-Tooth disease type 4B3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811329</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3695063</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A subtype of Charcot-Marie-Tooth type 4 with characteristics of childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities and the typical Charcot-Marie-Tooth phenotype (i.e. distal muscle weakness and atrophy, and sensory loss). There is evidence this disease is caused by homozygous or compound heterozygous mutation in the SBF1 gene on chromosome 22q.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/811329">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_854756"><div><strong>Charcot-Marie-Tooth disease type 2I</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854756</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3888087</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A form of axonal Charcot-Marie-Tooth disease a peripheral sensorimotor neuropathy. A late onset with severe sensory loss associated with distal weakness mainly of the legs and absent or reduced deep tendon reflexes.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/854756">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_863786"><div><strong>Charcot-Marie-Tooth disease axonal type 2S</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863786</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4015349</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Charcot-Marie-Tooth disease type 2S is a relatively pure form of autosomal recessive axonal neuropathy characterized by onset in the first decade of slowly progressive distal muscle weakness and atrophy affecting the lower and upper limbs. Patients have decreased reflexes and variable distal sensory impairment (summary by Cottenie et al., 2014). For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (118210).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/863786">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_934659"><div><strong>Arthrogryposis, distal, with impaired proprioception and touch</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934659</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4310692</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Distal arthrogryposis with impaired proprioception and touch is an autosomal recessive neurologic disorder characterized by loss of certain mechanosensation modalities resulting in ataxia, difficulty walking, dysmetria, muscle weakness and atrophy, and progressive skeletal contractures. Patients have onset of symptoms in early childhood (summary by Chesler et al., 2016 and Delle Vedove et al., 2016).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/934659">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_934757"><div><strong>Charcot-Marie-Tooth disease axonal type 2CC</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934757</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4310790</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Axonal Charcot-Marie-Tooth disease type 2CC is an autosomal dominant peripheral neuropathy that predominantly affects the lower limbs, resulting in muscle weakness and atrophy and gait impairment. Other features include distal sensory impairment and less severe involvement of the upper limbs. The age at onset and severity are variable (summary by Rebelo et al., 2016). For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT type 2, see CMT2A (118210).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/934757">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1648303"><div><strong>Charcot-Marie-Tooth disease type 4E</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648303</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4721436</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Congenital hypomyelinating neuropathy (CHN) is characterized clinically by onset of hypotonia at birth, areflexia, distal muscle weakness, and very slow nerve conduction velocities (often less than 10 m/s). Warner et al. (1997, 1998) noted that pathologic findings on sural nerve biopsies show hypomyelination of most or all fibers. Based on these findings, CHN is considered to be a result of congenital impairment in myelin formation. There has been some controversy and difficulty in differentiating congenital hypomyelination from Dejerine-Sottas syndrome (DSS; 145900) because there is considerable overlap in clinical presentation. Based on pathologic findings of sural nerve biopsies (the absence of active myelin breakdown and the paucity of the onion bulbs in CHN and the presence of demyelination/remyelination and an abundance of well-organized onion bulbs in DSS; see Balestrini et al., 1991), CHN is considered to result from a congenital impairment in myelin formation, whereas DSS is thought to be due to aberrant demyelination and subsequent remyelination of the peripheral nerve. There is also variation in the prognosis of patients diagnosed with CHN. In patients with CHN, Harati and Butler (1985) showed correlation of morbidity and mortality with the presence/absence of onion bulbs: patients with few onion bulbs died in early infancy, usually because of difficulty in swallowing and respiration after birth. Patients with atypical onion bulbs survived but were affected with severe motor and sensory impairment. These differences in outcome may represent genetic heterogeneity such that mutations in essential early myelin gene(s) cause a severe phenotype, whereas mutations in other, possibly later acting gene(s), such as MPZ, lead to a less severe outcome. Genetic Heterogeneity of Congenital Hypomyelinating Neuropathy See also CHN2 (618184), caused by mutation in the MPZ gene (159440) on chromosome 1q23; and CHN3 (618186), caused by mutation in the CNTNAP1 gene (602346) on chromosome 17q21.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1648303">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1680245"><div><strong>Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1680245</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5193137</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Hereditary motor and sensory neuropathy type VIC with optic atrophy (HMSN6C) is an autosomal recessive axonal sensorimotor peripheral neuropathy characterized by progressive distal muscle weakness and atrophy primarily affecting the lower limbs. Onset of neuropathy is in the first decade, manifest by difficulty walking and running and followed by similar involvement of the upper limbs and hands. The disorder is associated with distal sensory impairment, particularly of position and vibration sense, as well as areflexia; individuals usually have pes cavus, hammertoes, and atrophy of the intrinsic hand muscles. In addition, progressive optic atrophy and visual impairment occur during adulthood. Treatment with pyridoxal 5-prime phosphate supplementation (vitamin B6) may result in amelioration of symptoms and slow progression of the disease (summary by Chelban et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of HMSN6, see HMSN6A (601152).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1680245">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1794170"><div><strong>Facioscapulohumeral muscular dystrophy 4, digenic</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794170</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5561960</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Facioscapulohumeral muscular dystrophy (FSHD) is a skeletal muscle disorder characterized by adult onset of progressive muscle weakness of the face and upper extremity muscles. With disease progression, other muscles also may become affected. There is significant clinical variability and incomplete penetrance (summary by van den Boogaard et al., 2016). For a discussion of genetic heterogeneity of FSHD, see FSHD1 (158900).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1794170">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1800430"><div><strong>Hereditary spastic paraplegia 77</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1800430</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5569007</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The spectrum of FARS2 deficiency ranges from the infantile-onset phenotype, characterized by epileptic encephalopathy with lactic acidosis and poor prognosis (70% of affected individuals), to the later-onset phenotype, characterized by spastic paraplegia, less severe neurologic manifestations, and longer survival (30% of affected individuals). To date FARS2 deficiency has been reported in 37 individuals from 25 families. Infantile-onset phenotype. Seizures are difficult to control and may progress quickly at an early age to intractable seizures with frequent status epilepticus; some children have hypsarrhythmia on EEG. All have developmental delay; most are nonverbal and unable to walk. Feeding difficulties are common. More than half of affected children die in early childhood. Later-onset phenotype. All affected individuals have spastic paraplegia manifested by weakness, spasticity, and exaggerated reflexes of the lower extremities associated with walking difficulties; some have developmental delay/intellectual disability; some have brief seizures that resolve over time.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1800430">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1841278"><div><strong>Amyotrophic lateral sclerosis 28</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841278</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5830642</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Amyotrophic lateral sclerosis-28 (ALS28) is an autosomal dominant neurodegenerative disorder characterized by adult onset of slowly progressive limb muscle weakness and atrophy resulting in gait difficulties, loss of ambulation, and distal upper limb weakness. Facial involvement is rare, but some patients may have respiratory insufficiency. EMG and muscle biopsy show active and chronic denervation. Patient-derived motor neurons show accumulation of TDP43 (605078) and toxic intranuclear RNA accumulation (Kume et al., 2023). For discussion of genetic heterogeneity of amyotrophic lateral sclerosis, see ALS1 (105400).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1841278">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1844217"><div><strong>Spastic paraplegia 18a, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1844217</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5882694</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Spastic paraplegia-18A (SPG18A) is an autosomal dominant disorder characterized by a pure form of hereditary spastic paraplegia phenotype (summary by Rydning et al., 2018).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1844217">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1849676"><div><strong>Neuronopathy, distal hereditary motor, autosomal dominant 11</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1849676</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5882697</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Autosomal dominant distal hereditary motor neuronopathy-11 (HMND11) is a peripheral axonal motor neuropathy characterized by juvenile or young-adult onset of distal limb muscle weakness and atrophy mainly affecting the lower limbs, resulting in gait instability and walking difficulties. Foot deformities may also be present. The disorder is usually slowly progressive, and patients remain ambulatory until late adulthood. Some affected individuals may have distal upper limb and hand involvement or mild distal sensory abnormalities, but motor symptoms dominate the clinical picture. Electrophysiologic studies are consistent with a length-dependent axonal motor or sensorimotor neuropathy. Seizures are not present and brain imaging is normal (Beijer et al., 2019). One reported affected individual had a marfanoid habitus and mild speech delay with learning disabilities, suggesting possible expansion of the phenotypic spectrum (Ylikallio et al., 2020). For a discussion of genetic heterogeneity of autosomal dominant distal HMN, see HMND1 (182960).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1849676">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1846222"><div><strong>Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1846222</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5882701</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Autosomal dominant spastic paraplegia-91 with or without cerebellar ataxia (SPG91) is a highly variable neurologic disorder characterized by early-onset gait abnormalities due to spastic paraplegia of the lower limbs, sometimes with cerebellar ataxia. The age at onset is highly variable (congenital to young adult), although most patients have symptom onset in the first decade. Some patients present with a spastic paraplegia-predominant phenotype with significant pyramidal signs, whereas others present with an ataxic-predominant phenotype. In addition, although most patients have a more 'pure' phenotype restricted to gait abnormalities without additional features, others have a more 'complicated' phenotype with additional features such as sensory abnormalities, peripheral neuropathy, optic neuropathy, developmental delay, variably impaired intellectual development, and seizures. Many have normal brain imaging, but cerebellar atrophy may be observed in those with prominent cerebellar ataxia (Van de Vondel et al., 2022). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (182600).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1846222">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841278" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Amyotrophic lateral sclerosis 28</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934659" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arthrogryposis, distal, with impaired proprioception and touch</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934757" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Charcot-Marie-Tooth disease axonal type 2CC</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863786" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Charcot-Marie-Tooth disease axonal type 2S</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_334023" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Charcot-Marie-Tooth disease dominant intermediate C</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (33)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_334318" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Charcot-Marie-Tooth disease dominant intermediate D</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_334012" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Charcot-Marie-Tooth disease recessive intermediate A</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_334709" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Charcot-Marie-Tooth disease type 1D</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_343064" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Charcot-Marie-Tooth disease type 2B1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_316946" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Charcot-Marie-Tooth disease type 2D</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_854756" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Charcot-Marie-Tooth disease type 2I</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_811329" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Charcot-Marie-Tooth disease type 4B3</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_356581" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Charcot-Marie-Tooth disease type 4C</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648303" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Charcot-Marie-Tooth disease type 4E</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_324487" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Charcot-Marie-Tooth disease type 4H</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_336803" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Charcot-Marie-Tooth disease X-linked recessive 2</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_375530" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Charcot-Marie-Tooth disease X-linked recessive 3</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_413043" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital muscular dystrophy due to LMNA mutation</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_419336" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital myasthenic syndrome 1A</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794170" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Facioscapulohumeral muscular dystrophy 4, digenic</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_349003" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary spastic paraplegia 10</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_373138" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary spastic paraplegia 26</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_376521" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary spastic paraplegia 5A</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_339552" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary spastic paraplegia 7</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1800430" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary spastic paraplegia 77</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_356265" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Monomelic amyotrophy</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_343979" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nemaline myopathy 7</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_356618" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuronopathy, distal hereditary motor, autosomal dominant 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1849676" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuronopathy, distal hereditary motor, autosomal dominant 11</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_318838" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuronopathy, distal hereditary motor, type 5</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1680245" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1844217" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spastic paraplegia 18a, autosomal dominant</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1846222" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia</a></div></span></div></div>
</div>
<div class="portlet mgSection" id="ID_105">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
<div class="nl"><a target="_blank" href="/pubmed/10961751">Video-assisted transthoracic sympathectomy in the treatment of primary hyperhidrosis: friend or foe?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fredman B,
Zohar E,
Shachor D,
Bendahan J,
Jedeikin R</span><br />
<span class="medgenPMjournal">Surg Laparosc Endosc Percutan Tech</span>
2000 Aug;10(4):226-9.
<span class="bold">PMID: </span><a href="/pubmed/10961751" target="_blank">10961751</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22upper%20limb%20muscle%20weakness%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (1)</a></div></div>
</div>
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
<div class="portlet mgSection" id="ID_103">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
<div class="nl"><a target="_blank" href="/pubmed/35033149">Why the patients with Hirayama disease have abnormal cervical sagittal alignment? A radiological measurement analysis of posterior cervical extensors.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tian Y,
Xie L,
Jiang J,
Wang H</span><br />
<span class="medgenPMjournal">J Orthop Surg Res</span>
2022 Jan 15;17(1):19.
doi: 10.1186/s13018-021-02905-5.
<span class="bold">PMID: </span><a href="/pubmed/35033149" target="_blank">35033149</a><a href="/pmc/articles/PMC8760638" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32992066">Direct Involvement of Concomitant Foraminotomy for Radiculomyelopathy in Postoperative Upper Limb Palsy in Cervical Laminoplasty.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ishiguro H,
Takenaka S,
Kashii M,
Ukon Y,
Nagamoto Y,
Furuya M,
Makino T,
Sakai Y,
Kaito T</span><br />
<span class="medgenPMjournal">World Neurosurg</span>
2021 Feb;146:e14-e21.
Epub 2020 Sep 28
doi: 10.1016/j.wneu.2020.09.105.
<span class="bold">PMID: </span><a href="/pubmed/32992066" target="_blank">32992066</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32035752">Comprehensive metabolic flux analysis to explain skeletal muscle weakness in COPD.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Engelen MPKJ,
Jonker R,
Thaden JJ,
Ten Have GAM,
Jeon MS,
Dasarathy S,
Deutz NEP</span><br />
<span class="medgenPMjournal">Clin Nutr</span>
2020 Oct;39(10):3056-3065.
Epub 2020 Jan 29
doi: 10.1016/j.clnu.2020.01.010.
<span class="bold">PMID: </span><a href="/pubmed/32035752" target="_blank">32035752</a><a href="/pmc/articles/PMC7387164" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29886477">Distinct Clinical Features and Outcomes in Motor Neuron Disease Associated with Behavioural Variant Frontotemporal Dementia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cortés-Vicente E,
Turon-Sans J,
Gelpi E,
Clarimón J,
Borrego-Écija S,
Dols-Icardo O,
Illán-Gala I,
Lleó A,
Illa I,
Blesa R,
Al-Chalabi A,
Rojas-García R</span><br />
<span class="medgenPMjournal">Dement Geriatr Cogn Disord</span>
2018;45(3-4):220-231.
Epub 2018 Jun 8
doi: 10.1159/000488528.
<span class="bold">PMID: </span><a href="/pubmed/29886477" target="_blank">29886477</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23382283">Selected gait parameters in children with obstetric brachial plexus injury (OBPI) - a pilot study.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Grodner MR,
Dudziński K,
Zdrajkowski Z,
Molik A,
Nosarzewska A</span><br />
<span class="medgenPMjournal">Ortop Traumatol Rehabil</span>
2012 Nov-Dec;14(6):555-68.
doi: 10.5604/15093492.1024721.
<span class="bold">PMID: </span><a href="/pubmed/23382283" target="_blank">23382283</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Upper%20limb%20muscle%20weakness%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (6)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/35033149">Why the patients with Hirayama disease have abnormal cervical sagittal alignment? A radiological measurement analysis of posterior cervical extensors.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tian Y,
Xie L,
Jiang J,
Wang H</span><br />
<span class="medgenPMjournal">J Orthop Surg Res</span>
2022 Jan 15;17(1):19.
doi: 10.1186/s13018-021-02905-5.
<span class="bold">PMID: </span><a href="/pubmed/35033149" target="_blank">35033149</a><a href="/pmc/articles/PMC8760638" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32035752">Comprehensive metabolic flux analysis to explain skeletal muscle weakness in COPD.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Engelen MPKJ,
Jonker R,
Thaden JJ,
Ten Have GAM,
Jeon MS,
Dasarathy S,
Deutz NEP</span><br />
<span class="medgenPMjournal">Clin Nutr</span>
2020 Oct;39(10):3056-3065.
Epub 2020 Jan 29
doi: 10.1016/j.clnu.2020.01.010.
<span class="bold">PMID: </span><a href="/pubmed/32035752" target="_blank">32035752</a><a href="/pmc/articles/PMC7387164" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31037421">Cervical spondylotic amyotrophy: a systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Luo W,
Li Y,
Xu Q,
Gu R,
Zhao J</span><br />
<span class="medgenPMjournal">Eur Spine J</span>
2019 Oct;28(10):2293-2301.
Epub 2019 Apr 29
doi: 10.1007/s00586-019-05990-7.
<span class="bold">PMID: </span><a href="/pubmed/31037421" target="_blank">31037421</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29886477">Distinct Clinical Features and Outcomes in Motor Neuron Disease Associated with Behavioural Variant Frontotemporal Dementia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cortés-Vicente E,
Turon-Sans J,
Gelpi E,
Clarimón J,
Borrego-Écija S,
Dols-Icardo O,
Illán-Gala I,
Lleó A,
Illa I,
Blesa R,
Al-Chalabi A,
Rojas-García R</span><br />
<span class="medgenPMjournal">Dement Geriatr Cogn Disord</span>
2018;45(3-4):220-231.
Epub 2018 Jun 8
doi: 10.1159/000488528.
<span class="bold">PMID: </span><a href="/pubmed/29886477" target="_blank">29886477</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27400822">Childhood-Onset Multifocal Motor Neuropathy With Immunoglobulin M Antibodies to Gangliosides GM1 and GM2: A Case Report and Review of the Literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ishigaki H,
Hiraide T,
Miyagi Y,
Hayashi T,
Matsubayashi T,
Shimoda A,
Kusunoki S,
Fukuda T</span><br />
<span class="medgenPMjournal">Pediatr Neurol</span>
2016 Sep;62:51-7.
Epub 2016 Apr 21
doi: 10.1016/j.pediatrneurol.2016.03.017.
<span class="bold">PMID: </span><a href="/pubmed/27400822" target="_blank">27400822</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Upper%20limb%20muscle%20weakness%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (6)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/32992066">Direct Involvement of Concomitant Foraminotomy for Radiculomyelopathy in Postoperative Upper Limb Palsy in Cervical Laminoplasty.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ishiguro H,
Takenaka S,
Kashii M,
Ukon Y,
Nagamoto Y,
Furuya M,
Makino T,
Sakai Y,
Kaito T</span><br />
<span class="medgenPMjournal">World Neurosurg</span>
2021 Feb;146:e14-e21.
Epub 2020 Sep 28
doi: 10.1016/j.wneu.2020.09.105.
<span class="bold">PMID: </span><a href="/pubmed/32992066" target="_blank">32992066</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32035752">Comprehensive metabolic flux analysis to explain skeletal muscle weakness in COPD.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Engelen MPKJ,
Jonker R,
Thaden JJ,
Ten Have GAM,
Jeon MS,
Dasarathy S,
Deutz NEP</span><br />
<span class="medgenPMjournal">Clin Nutr</span>
2020 Oct;39(10):3056-3065.
Epub 2020 Jan 29
doi: 10.1016/j.clnu.2020.01.010.
<span class="bold">PMID: </span><a href="/pubmed/32035752" target="_blank">32035752</a><a href="/pmc/articles/PMC7387164" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27400822">Childhood-Onset Multifocal Motor Neuropathy With Immunoglobulin M Antibodies to Gangliosides GM1 and GM2: A Case Report and Review of the Literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ishigaki H,
Hiraide T,
Miyagi Y,
Hayashi T,
Matsubayashi T,
Shimoda A,
Kusunoki S,
Fukuda T</span><br />
<span class="medgenPMjournal">Pediatr Neurol</span>
2016 Sep;62:51-7.
Epub 2016 Apr 21
doi: 10.1016/j.pediatrneurol.2016.03.017.
<span class="bold">PMID: </span><a href="/pubmed/27400822" target="_blank">27400822</a></div>
<div class="nl"><a target="_blank" href="/pubmed/12234087">Muscle weakness and cocontraction in upper limb hemiparesis: relationship to motor impairment and physical disability.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chae J,
Yang G,
Park BK,
Labatia I</span><br />
<span class="medgenPMjournal">Neurorehabil Neural Repair</span>
2002 Sep;16(3):241-8.
doi: 10.1177/154596830201600303.
<span class="bold">PMID: </span><a href="/pubmed/12234087" target="_blank">12234087</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Upper%20limb%20muscle%20weakness%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (4)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/36307205">A missense, loss-of-function YARS1 variant in a patient with proximal-predominant motor neuropathy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Forrest ME,
Meyer AP,
Laureano Figueroa SM,
Antonellis A</span><br />
<span class="medgenPMjournal">Cold Spring Harb Mol Case Stud</span>
2022 Dec;8(7)
Epub 2022 Dec 28
doi: 10.1101/mcs.a006246.
<span class="bold">PMID: </span><a href="/pubmed/36307205" target="_blank">36307205</a><a href="/pmc/articles/PMC9808560" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31037421">Cervical spondylotic amyotrophy: a systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Luo W,
Li Y,
Xu Q,
Gu R,
Zhao J</span><br />
<span class="medgenPMjournal">Eur Spine J</span>
2019 Oct;28(10):2293-2301.
Epub 2019 Apr 29
doi: 10.1007/s00586-019-05990-7.
<span class="bold">PMID: </span><a href="/pubmed/31037421" target="_blank">31037421</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27400822">Childhood-Onset Multifocal Motor Neuropathy With Immunoglobulin M Antibodies to Gangliosides GM1 and GM2: A Case Report and Review of the Literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ishigaki H,
Hiraide T,
Miyagi Y,
Hayashi T,
Matsubayashi T,
Shimoda A,
Kusunoki S,
Fukuda T</span><br />
<span class="medgenPMjournal">Pediatr Neurol</span>
2016 Sep;62:51-7.
Epub 2016 Apr 21
doi: 10.1016/j.pediatrneurol.2016.03.017.
<span class="bold">PMID: </span><a href="/pubmed/27400822" target="_blank">27400822</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26099699">Sporadic lower motor neuron disease with a snake eyes appearance on the cervical anterior horns by MRI.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sasaki S</span><br />
<span class="medgenPMjournal">Clin Neurol Neurosurg</span>
2015 Sep;136:122-31.
Epub 2015 Jun 11
doi: 10.1016/j.clineuro.2015.06.006.
<span class="bold">PMID: </span><a href="/pubmed/26099699" target="_blank">26099699</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23382283">Selected gait parameters in children with obstetric brachial plexus injury (OBPI) - a pilot study.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Grodner MR,
Dudziński K,
Zdrajkowski Z,
Molik A,
Nosarzewska A</span><br />
<span class="medgenPMjournal">Ortop Traumatol Rehabil</span>
2012 Nov-Dec;14(6):555-68.
doi: 10.5604/15093492.1024721.
<span class="bold">PMID: </span><a href="/pubmed/23382283" target="_blank">23382283</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Upper%20limb%20muscle%20weakness%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (5)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/38674263">A Novel Technique for Basilar Invagination Treatment in a Patient with Klippel-Feil Syndrome: A Clinical Example and Brief Literature Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tanaka M,
Askar AEKA,
Kumawat C,
Arataki S,
Komatsubara T,
Taoka T,
Uotani K,
Oda Y</span><br />
<span class="medgenPMjournal">Medicina (Kaunas)</span>
2024 Apr 10;60(4)
doi: 10.3390/medicina60040616.
<span class="bold">PMID: </span><a href="/pubmed/38674263" target="_blank">38674263</a><a href="/pmc/articles/PMC11051808" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36307205">A missense, loss-of-function YARS1 variant in a patient with proximal-predominant motor neuropathy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Forrest ME,
Meyer AP,
Laureano Figueroa SM,
Antonellis A</span><br />
<span class="medgenPMjournal">Cold Spring Harb Mol Case Stud</span>
2022 Dec;8(7)
Epub 2022 Dec 28
doi: 10.1101/mcs.a006246.
<span class="bold">PMID: </span><a href="/pubmed/36307205" target="_blank">36307205</a><a href="/pmc/articles/PMC9808560" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29886477">Distinct Clinical Features and Outcomes in Motor Neuron Disease Associated with Behavioural Variant Frontotemporal Dementia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cortés-Vicente E,
Turon-Sans J,
Gelpi E,
Clarimón J,
Borrego-Écija S,
Dols-Icardo O,
Illán-Gala I,
Lleó A,
Illa I,
Blesa R,
Al-Chalabi A,
Rojas-García R</span><br />
<span class="medgenPMjournal">Dement Geriatr Cogn Disord</span>
2018;45(3-4):220-231.
Epub 2018 Jun 8
doi: 10.1159/000488528.
<span class="bold">PMID: </span><a href="/pubmed/29886477" target="_blank">29886477</a></div>
<div class="nl"><a target="_blank" href="/pubmed/12234087">Muscle weakness and cocontraction in upper limb hemiparesis: relationship to motor impairment and physical disability.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chae J,
Yang G,
Park BK,
Labatia I</span><br />
<span class="medgenPMjournal">Neurorehabil Neural Repair</span>
2002 Sep;16(3):241-8.
doi: 10.1177/154596830201600303.
<span class="bold">PMID: </span><a href="/pubmed/12234087" target="_blank">12234087</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Upper%20limb%20muscle%20weakness%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (4)</a></div></div>
</div>
<div class="portlet mgSection" id="ID_104">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">
<div class="nl"><a target="_blank" href="/pubmed/31037421">Cervical spondylotic amyotrophy: a systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Luo W,
Li Y,
Xu Q,
Gu R,
Zhao J</span><br />
<span class="medgenPMjournal">Eur Spine J</span>
2019 Oct;28(10):2293-2301.
Epub 2019 Apr 29
doi: 10.1007/s00586-019-05990-7.
<span class="bold">PMID: </span><a href="/pubmed/31037421" target="_blank">31037421</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Upper%20limb%20muscle%20weakness%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
</div>
</div></div></div></div></div></div></div>
<div id="messagearea_bottom">
</div>
<div class=" bottom">
</div>
</div>
</div>
<div class="supplemental col three_col last">
<h2 class="offscreen_noflow">Supplemental Content</h2>
<div>
<!-- MedGen supplemental column starts here -->
<div class="rightCol mgCol">
<div class="portlet mgSection" id="ID_113">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
</div>
<div class="portlet mgSection" id="ID_119">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Upper%20limb%20muscle%20weakness" target="_blank">ClinicalTrials.gov</a></li></ul></div>
</div>
<div class="portlet mgSection" id="ID_121">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22upper%20limb%20muscle%20weakness%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
</div>
<div class="portlet mgSection" id="ID_116">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Upper%20limb%20muscle%20weakness" target="_blank">MedlinePlus</a></li></ul></div>
</div>
</div>
<div class="portlet brieflink">
<div class="portlet_head">
<div class="portlet_title">
<h3>Reviews</h3>
</div>
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
</div>
<div class="portlet_content">
<ul>
<li>
<a href="/pubmed/clinical?term=Upper%20limb%20muscle%20weakness" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
</li>
<li>
<a href="/pubmed?term=Upper%20limb%20muscle%20weakness%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
</li>
</ul>
</div>
</div>
<!-- MedGen supplemental column ends here -->
<div class="portlet brieflink">
<div class="portlet_head">
<div class="portlet_title">
<h3>Related information</h3>
</div>
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
</div>
<div class="portlet_content DiscoveryDbLinks">
<ul>
<li class="brieflinkpopper">
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=305607" ref="log$=recordlinks">PMC Articles</a>
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
</li>
<li class="brieflinkpopper">
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=305607" ref="log$=recordlinks">PubMed</a>
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
</li>
</ul>
</div>
</div>
<div class="portlet">
<div class="portlet_head">
<div class="portlet_title">
<h3>Recent activity</h3>
</div>
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter"></a>
</div>
<div class="portlet_content">
<div id="HTDisplay" class="">
<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
<div class="action">
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
Clear
</a>
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
Turn Off
</a>
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="2" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOff" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
Turn On
</a>
</div>
<ul id="activity">
<li class="ra_rcd ralinkpopper two_line">
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d316ca84f3725e5929bb71">Upper limb muscle weakness</a>
<div class="ralinkpop offscreen_noflow">Upper limb muscle weakness<div class="brieflinkpopdesc"></div></div>
<div class="tertiary">MedGen</div>
</li>
<li class="ra_rcd ralinkpopper two_line">
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67d316c884f3725e5929acff">REEP1 receptor accessory protein 1 [Homo sapiens]</a>
<div class="ralinkpop offscreen_noflow">REEP1 receptor accessory protein 1 [Homo sapiens]<div class="brieflinkpopdesc">Gene ID:65055</div></div>
<div class="tertiary">Gene</div>
</li>
<li class="ra_rcd ralinkpopper two_line">
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67d316b067c23b31e0a341c7">BSCL2-Related Neurologic Disorders / Seipinopathy - GeneReviews®</a>
<div class="ralinkpop offscreen_noflow">BSCL2-Related Neurologic Disorders / Seipinopathy - GeneReviews®<div class="brieflinkpopdesc"></div></div>
<div class="tertiary"></div>
</li>
<li class="ra_rcd ralinkpopper two_line">
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67d316ad67c23b31e0a3300c">BSCL2 BSCL2 lipid droplet biogenesis associated, seipin [Homo sapiens]</a>
<div class="ralinkpop offscreen_noflow">BSCL2 BSCL2 lipid droplet biogenesis associated, seipin [Homo sapiens]<div class="brieflinkpopdesc">Gene ID:26580</div></div>
<div class="tertiary">Gene</div>
</li>
<li class="ra_rcd ralinkpopper two_line">
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67d316aa2f30673f7bde9576">Table B. [OMIM Entries for BSCL2-Related Neurologic Disorders / Seipinopathy (Vi...</a>
<div class="ralinkpop offscreen_noflow">Table B. [OMIM Entries for BSCL2-Related Neurologic Disorders / Seipinopathy (View All in OMIM)]. - GeneReviews®<div class="brieflinkpopdesc"></div></div>
<div class="tertiary"></div>
</li>
</ul>
<p class="HTOn">Your browsing activity is empty.</p>
<p class="HTOff">Activity recording is turned off.</p>
<p id="turnOn" class="HTOff">
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryOn" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryOn" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryOn">Turn recording back on</a>
</p>
<a class="seemore" href="/sites/myncbi/recentactivity">See more...</a>
</div>
</div>
</div>
</div>
</div>
<div id="NCBIFooter_dynamic">
<!--<component id="NCBIBreadcrumbs"/>
<component id="NCBIHelpDesk"/>-->
<noscript><img alt="" src="/stat?jsdisabled=true&ncbi_app=entrez&ncbi_db=medgen&ncbi_pdid=FullReport&ncbi_phid=CE8DD6557D30E7610000000000AF0094" /></noscript>
</div>
<div xmlns="http://www.w3.org/1999/xhtml" class="footer" id="footer" xml:base="http://127.0.0.1/sites/static/header_footer/">
<section class="icon-section">
<div id="icon-section-header" class="icon-section_header">Follow NCBI</div>
<div class="grid-container container">
<div class="icon-section_container">
<a class="footer-icon" id="footer_twitter" href="https://twitter.com/ncbi" aria-label="Twitter">
<svg xmlns="http://www.w3.org/2000/svg" width="40" height="40" viewBox="0 0 40 40" fill="none">
<title>Twitter</title>
<g id="twitterx1008">
<path id="path1008" d="M6.06736 7L16.8778 20.8991L6.00001 32.2H10.2L18.6 23.1L25.668 32.2H34L22.8 17.5L31.9 7H28.4L20.7 15.4L14.401 7H6.06898H6.06736ZM9.66753 8.73423H12.9327L29.7327 30.4658H26.5697L9.66753 8.73423Z" fill="#5B616B"></path>
</g>
</svg>
</a>
<a class="footer-icon" id="footer_facebook" href="https://www.facebook.com/ncbi.nlm" aria-label="Facebook"><svg xmlns="http://www.w3.org/2000/svg" data-name="Layer 1" viewBox="0 0 300 300">
<title>Facebook</title>
<path class="cls-11" d="M210.5,115.12H171.74V97.82c0-8.14,5.39-10,9.19-10h27.14V52l-39.32-.12c-35.66,0-42.42,26.68-42.42,43.77v19.48H99.09v36.32h27.24v109h45.41v-109h35Z">
</path>
</svg></a>
<a class="footer-icon" id="footer_linkedin" href="https://www.linkedin.com/company/ncbinlm" aria-label="LinkedIn"><svg xmlns="http://www.w3.org/2000/svg" data-name="Layer 1" viewBox="0 0 300 300">
<title>LinkedIn</title>
<path class="cls-11" d="M101.64,243.37H57.79v-114h43.85Zm-22-131.54h-.26c-13.25,0-21.82-10.36-21.82-21.76,0-11.65,8.84-21.15,22.33-21.15S101.7,78.72,102,90.38C102,101.77,93.4,111.83,79.63,111.83Zm100.93,52.61A17.54,17.54,0,0,0,163,182v61.39H119.18s.51-105.23,0-114H163v13a54.33,54.33,0,0,1,34.54-12.66c26,0,44.39,18.8,44.39,55.29v58.35H198.1V182A17.54,17.54,0,0,0,180.56,164.44Z">
</path>
</svg></a>
<a class="footer-icon" id="footer_github" href="https://github.com/ncbi" aria-label="GitHub"><svg xmlns="http://www.w3.org/2000/svg" data-name="Layer 1" viewBox="0 0 300 300">
<defs>
<style>
.cls-11,
.cls-12 {
fill: #737373;
}
.cls-11 {
fill-rule: evenodd;
}
</style>
</defs>
<title>GitHub</title>
<path class="cls-11" d="M151.36,47.28a105.76,105.76,0,0,0-33.43,206.1c5.28,1,7.22-2.3,7.22-5.09,0-2.52-.09-10.85-.14-19.69-29.42,6.4-35.63-12.48-35.63-12.48-4.81-12.22-11.74-15.47-11.74-15.47-9.59-6.56.73-6.43.73-6.43,10.61.75,16.21,10.9,16.21,10.9,9.43,16.17,24.73,11.49,30.77,8.79,1-6.83,3.69-11.5,6.71-14.14C108.57,197.1,83.88,188,83.88,147.51a40.92,40.92,0,0,1,10.9-28.39c-1.1-2.66-4.72-13.42,1-28,0,0,8.88-2.84,29.09,10.84a100.26,100.26,0,0,1,53,0C198,88.3,206.9,91.14,206.9,91.14c5.76,14.56,2.14,25.32,1,28a40.87,40.87,0,0,1,10.89,28.39c0,40.62-24.74,49.56-48.29,52.18,3.79,3.28,7.17,9.71,7.17,19.58,0,14.15-.12,25.54-.12,29,0,2.82,1.9,6.11,7.26,5.07A105.76,105.76,0,0,0,151.36,47.28Z">
</path>
<path class="cls-12" d="M85.66,199.12c-.23.52-1.06.68-1.81.32s-1.2-1.06-.95-1.59,1.06-.69,1.82-.33,1.21,1.07.94,1.6Zm-1.3-1">
</path>
<path class="cls-12" d="M90,203.89c-.51.47-1.49.25-2.16-.49a1.61,1.61,0,0,1-.31-2.19c.52-.47,1.47-.25,2.17.49s.82,1.72.3,2.19Zm-1-1.08">
</path>
<path class="cls-12" d="M94.12,210c-.65.46-1.71,0-2.37-.91s-.64-2.07,0-2.52,1.7,0,2.36.89.65,2.08,0,2.54Zm0,0"></path>
<path class="cls-12" d="M99.83,215.87c-.58.64-1.82.47-2.72-.41s-1.18-2.06-.6-2.7,1.83-.46,2.74.41,1.2,2.07.58,2.7Zm0,0">
</path>
<path class="cls-12" d="M107.71,219.29c-.26.82-1.45,1.2-2.64.85s-2-1.34-1.74-2.17,1.44-1.23,2.65-.85,2,1.32,1.73,2.17Zm0,0">
</path>
<path class="cls-12" d="M116.36,219.92c0,.87-1,1.59-2.24,1.61s-2.29-.68-2.3-1.54,1-1.59,2.26-1.61,2.28.67,2.28,1.54Zm0,0">
</path>
<path class="cls-12" d="M124.42,218.55c.15.85-.73,1.72-2,1.95s-2.37-.3-2.52-1.14.73-1.75,2-2,2.37.29,2.53,1.16Zm0,0"></path>
</svg></a>
<a class="footer-icon" id="footer_blog" href="https://ncbiinsights.ncbi.nlm.nih.gov/" aria-label="Blog">
<svg xmlns="http://www.w3.org/2000/svg" id="Layer_1" data-name="Layer 1" viewBox="0 0 40 40">
<defs><style>.cls-1{fill:#737373;}</style></defs>
<title>NCBI Insights Blog</title>
<path class="cls-1" d="M14,30a4,4,0,1,1-4-4,4,4,0,0,1,4,4Zm11,3A19,19,0,0,0,7.05,15a1,1,0,0,0-1,1v3a1,1,0,0,0,.93,1A14,14,0,0,1,20,33.07,1,1,0,0,0,21,34h3a1,1,0,0,0,1-1Zm9,0A28,28,0,0,0,7,6,1,1,0,0,0,6,7v3a1,1,0,0,0,1,1A23,23,0,0,1,29,33a1,1,0,0,0,1,1h3A1,1,0,0,0,34,33Z"></path>
</svg>
</a>
</div>
</div>
</section>
<section class="container-fluid bg-primary">
<div class="container pt-5">
<div class="row mt-3">
<div class="col-lg-3 col-12">
<p><a class="text-white" href="https://www.nlm.nih.gov/socialmedia/index.html">Connect with NLM</a></p>
<ul class="list-inline social_media">
<li class="list-inline-item"><a href="https://twitter.com/NLM_NIH" aria-label="Twitter" target="_blank" rel="noopener noreferrer">
<svg xmlns="http://www.w3.org/2000/svg" width="35" height="35" viewBox="0 0 36 35" fill="none">
<title>Twitter</title>
<g id="twitterx1009" clip-path="url(#clip0_65276_3946)">
<path id="Vector_Twitter" d="M17.5006 34.6565C26.9761 34.6565 34.6575 26.9751 34.6575 17.4996C34.6575 8.02416 26.9761 0.342773 17.5006 0.342773C8.02514 0.342773 0.34375 8.02416 0.34375 17.4996C0.34375 26.9751 8.02514 34.6565 17.5006 34.6565Z" fill="#205493" stroke="white" stroke-width="1.0" stroke-miterlimit="10"></path>
<path id="path1009" d="M8.54811 8.5L16.2698 18.4279L8.50001 26.5H11.5L17.5 20L22.5486 26.5H28.5L20.5 16L27 8.5H24.5L19 14.5L14.5007 8.5H8.54927H8.54811ZM11.1197 9.73873H13.4519L25.4519 25.2613H23.1926L11.1197 9.73873Z" fill="white"></path>
</g>
<defs>
<clipPath id="clip0_65276_3946">
<rect width="35" height="35" fill="white"></rect>
</clipPath>
</defs>
</svg>
</a></li>
<li class="list-inline-item"><a href="https://www.facebook.com/nationallibraryofmedicine" aria-label="Facebook" rel="noopener noreferrer" target="_blank">
<svg xmlns="http://www.w3.org/2000/svg" width="35" height="35" viewBox="0 0 36 35" fill="none">
<title>Facebook</title>
<g id="Facebook" clip-path="url(#clip0_1717_1086)">
<path id="Vector_Facebook" d="M15.1147 29.1371C15.1147 29.0822 15.1147 29.0296 15.1147 28.9747V18.9414H11.8183C11.6719 18.9414 11.6719 18.9414 11.6719 18.8018C11.6719 17.5642 11.6719 16.3289 11.6719 15.0937C11.6719 14.9793 11.7062 14.9518 11.816 14.9518C12.8683 14.9518 13.9206 14.9518 14.9751 14.9518H15.1215V14.8329C15.1215 13.8057 15.1215 12.774 15.1215 11.7492C15.1274 10.9262 15.3148 10.1146 15.6706 9.37241C16.1301 8.38271 16.9475 7.60378 17.9582 7.19235C18.6492 6.90525 19.3923 6.76428 20.1405 6.7783C21.0029 6.79202 21.8653 6.83091 22.7278 6.86065C22.8879 6.86065 23.048 6.89496 23.2082 6.90182C23.2974 6.90182 23.3271 6.94071 23.3271 7.02993C23.3271 7.54235 23.3271 8.05477 23.3271 8.5649C23.3271 9.16882 23.3271 9.77274 23.3271 10.3767C23.3271 10.4819 23.2974 10.5139 23.1921 10.5116C22.5379 10.5116 21.8814 10.5116 21.2271 10.5116C20.9287 10.5184 20.6316 10.5528 20.3395 10.6146C20.0822 10.6619 19.8463 10.7891 19.6653 10.9779C19.4842 11.1668 19.3672 11.4078 19.3307 11.6669C19.2857 11.893 19.2612 12.1226 19.2575 12.3531C19.2575 13.1904 19.2575 14.0299 19.2575 14.8695C19.2575 14.8946 19.2575 14.9198 19.2575 14.9564H23.0229C23.1807 14.9564 23.183 14.9564 23.1624 15.1074C23.0778 15.7662 22.9885 16.425 22.9039 17.0816C22.8322 17.6321 22.7636 18.1827 22.698 18.7332C22.6729 18.9437 22.6797 18.9437 22.4693 18.9437H19.2644V28.8992C19.2644 28.9793 19.2644 29.0593 19.2644 29.1394L15.1147 29.1371Z" fill="white"></path>
<path id="Vector_2_Facebook" d="M17.5006 34.657C26.9761 34.657 34.6575 26.9756 34.6575 17.5001C34.6575 8.02465 26.9761 0.343262 17.5006 0.343262C8.02514 0.343262 0.34375 8.02465 0.34375 17.5001C0.34375 26.9756 8.02514 34.657 17.5006 34.657Z" stroke="white" stroke-width="1.0" stroke-miterlimit="10"></path>
</g>
<defs>
<clipPath id="clip0_1717_1086">
<rect width="35" height="35" fill="white"></rect>
</clipPath>
</defs>
</svg>
</a></li>
<li class="list-inline-item"><a href="https://www.youtube.com/user/NLMNIH" aria-label="Youtube" target="_blank" rel="noopener noreferrer">
<svg xmlns="http://www.w3.org/2000/svg" width="35" height="35" viewBox="0 0 36 35" fill="none">
<title>Youtube</title>
<g id="YouTube" clip-path="url(#clip0_1717_1101)">
<path id="Vector_Youtube" d="M26.2571 11.4791C25.9025 11.1589 25.5709 10.9576 24.228 10.834C22.5512 10.6785 20.2797 10.6556 18.564 10.6533H16.4365C14.7208 10.6533 12.4493 10.6785 10.7725 10.834C9.43196 10.9576 9.09798 11.1589 8.7434 11.4791C7.81464 12.321 7.6202 14.6268 7.59961 16.8938C7.59961 17.3178 7.59961 17.741 7.59961 18.1635C7.62706 20.4121 7.82837 22.686 8.7434 23.521C9.09798 23.8412 9.42967 24.0425 10.7725 24.1661C12.4493 24.3216 14.7208 24.3445 16.4365 24.3468H18.564C20.2797 24.3468 22.5512 24.3216 24.228 24.1661C25.5686 24.0425 25.9025 23.8412 26.2571 23.521C27.1722 22.6929 27.3735 20.451 27.4009 18.2206C27.4009 17.7402 27.4009 17.2599 27.4009 16.7795C27.3735 14.5491 27.1699 12.3072 26.2571 11.4791ZM15.5604 20.5311V14.652L20.561 17.5001L15.5604 20.5311Z" fill="white"></path>
<path id="Vector_2_Youtube" d="M17.5006 34.657C26.9761 34.657 34.6575 26.9756 34.6575 17.5001C34.6575 8.02465 26.9761 0.343262 17.5006 0.343262C8.02514 0.343262 0.34375 8.02465 0.34375 17.5001C0.34375 26.9756 8.02514 34.657 17.5006 34.657Z" stroke="white" stroke-width="1.0" stroke-miterlimit="10"></path>
</g>
<defs>
<clipPath id="clip0_1717_1101">
<rect width="35" height="35" fill="white"></rect>
</clipPath>
</defs>
</svg>
</a></li>
</ul>
</div>
<div class="col-lg-3 col-12">
<p class="address_footer text-white">National Library of Medicine<br />
<a href="https://www.google.com/maps/place/8600+Rockville+Pike,+Bethesda,+MD+20894/@38.9959508,-77.101021,17z/data=!3m1!4b1!4m5!3m4!1s0x89b7c95e25765ddb:0x19156f88b27635b8!8m2!3d38.9959508!4d-77.0988323" class="text-white" target="_blank" rel="noopener noreferrer">8600 Rockville Pike<br />
Bethesda, MD 20894</a></p>
</div>
<div class="col-lg-3 col-12 centered-lg">
<p><a href="https://www.nlm.nih.gov/web_policies.html" class="text-white">Web Policies</a><br />
<a href="https://www.nih.gov/institutes-nih/nih-office-director/office-communications-public-liaison/freedom-information-act-office" class="text-white">FOIA</a><br />
<a href="https://www.hhs.gov/vulnerability-disclosure-policy/index.html" class="text-white" id="vdp">HHS Vulnerability Disclosure</a></p>
</div>
<div class="col-lg-3 col-12 centered-lg">
<p><a class="supportLink text-white" href="https://support.nlm.nih.gov/">Help</a><br />
<a href="https://www.nlm.nih.gov/accessibility.html" class="text-white">Accessibility</a><br />
<a href="https://www.nlm.nih.gov/careers/careers.html" class="text-white">Careers</a></p>
</div>
</div>
<div class="row">
<div class="col-lg-12 centered-lg">
<nav class="bottom-links">
<ul class="mt-3">
<li>
<a class="text-white" href="//www.nlm.nih.gov/">NLM</a>
</li>
<li>
<a class="text-white" href="https://www.nih.gov/">NIH</a>
</li>
<li>
<a class="text-white" href="https://www.hhs.gov/">HHS</a>
</li>
<li>
<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
</li>
</ul>
</nav>
</div>
</div>
</div>
</section>
<script type="text/javascript" src="/portal/portal3rc.fcgi/rlib/js/InstrumentOmnitureBaseJS/InstrumentNCBIConfigJS/InstrumentNCBIBaseJS/InstrumentPageStarterJS.js?v=1"> </script>
<script type="text/javascript" src="/portal/portal3rc.fcgi/static/js/hfjs2.js"> </script>
</div>
</div>
<div><input name="EntrezSystem2.PEntrez.DbConnector.Db" sid="1" type="hidden" value="medgen" /><input name="EntrezSystem2.PEntrez.DbConnector.LastDb" sid="1" type="hidden" value="medgen" /><input name="EntrezSystem2.PEntrez.DbConnector.Term" sid="1" type="hidden" value="" /><input name="EntrezSystem2.PEntrez.DbConnector.LastTabCmd" sid="1" type="hidden" value="" /><input name="EntrezSystem2.PEntrez.DbConnector.LastQueryKey" sid="1" type="hidden" value="5318" /><input name="EntrezSystem2.PEntrez.DbConnector.IdsFromResult" sid="1" type="hidden" value="" /><input name="EntrezSystem2.PEntrez.DbConnector.LastIdsFromResult" sid="1" type="hidden" value="" /><input name="EntrezSystem2.PEntrez.DbConnector.LinkName" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.DbConnector.LinkReadableName" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.DbConnector.LinkSrcDb" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.DbConnector.Cmd" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.DbConnector.TabCmd" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.DbConnector.QueryKey" sid="1" type="hidden" /></div>
<input type="hidden" name="p$a" id="p$a" /><input type="hidden" name="p$l" id="p$l" value="EntrezSystem2" /><input type="hidden" name="p$st" id="p$st" value="medgen" /><input name="SessionId" id="SessionId" value="CE8B5AF87C7FFCB1_0191SID" disabled="disabled" type="hidden" /><input name="Snapshot" id="Snapshot" value="/projects/Phenotype/MedGen/MedGen@6.14" disabled="disabled" type="hidden" /></form>
</div>
</div>
<!-- CE8B5AF87C7FFCB1_0191SID /projects/Phenotype/MedGen/MedGen@6.14 portal106 v4.1.r689238 Tue, Oct 22 2024 16:10:51 -->
<span id="portal-csrf-token" style="display:none" data-token="CE8B5AF87C7FFCB1_0191SID"></span>
<script type='text/javascript' src='/portal/js/portal.js'></script><script type="text/javascript" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/js/4221766/3812534/4212053/3812535/3781605/4186313/2499590/3758627/4078478/3908752/3423/4018706/3891418/4212356/4078480/4078479/4025341/4076482/31971/35962/2733373/33966/3397055/4001808.js" snapshot="medgen"></script></body>
</html>