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<!--
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||
UID=376220
|
||
ConceptID=C1847839
|
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-->
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<!--imgCountBooks = 1--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Image</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1138/bin/ataxias-Image001.gif" src-large="/books/NBK1138/bin/ataxias-Image001.jpg" /></a><br /><a href="/books/NBK1138/figure/ataxias.F1/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Episodic ataxia type 3<span class="h1sub">(EA3)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376220</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.">C1847839</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>ATAXIA, EPISODIC, WITH VERTIGO AND TINNITUS</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Episodic ataxia type 3 (718755009); Episodic ataxia and vertigo with tinnitus and myokymia syndrome (718755009)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</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.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0011682" target="_blank">MONDO:0011682</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/606554" target="_blank">606554</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79135">ORPHA79135</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">A very rare form of hereditary episodic ataxia with characteristics of vestibular ataxia, vertigo, tinnitus and interictal myokymia. [from <a title="US Edition of SNOMED CT" href="http://www.nlm.nih.gov/research/umls/Snomed/us_edition.html" class="defSource" target="_blank">SNOMEDCT_US</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_10196"><div><strong>Nausea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10196</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.">C0027497</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A sensation of unease in the stomach together with an urge to vomit.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10196">Feature record</a> | <a href="/medgen?term=%22Nausea%22%5BClinical%20Features%5D%20OR%2010196%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_12124"><div><strong>Vomiting</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>12124</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.">C0042963</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/12124">Feature record</a> | <a href="/medgen?term=%22Vomiting%22%5BClinical%20Features%5D%20OR%2012124%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_52760"><div><strong>Tinnitus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52760</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.">C0040264</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/52760">Feature record</a> | <a href="/medgen?term=%22Tinnitus%22%5BClinical%20Features%5D%20OR%2052760%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_53006"><div><strong>Vertigo</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>53006</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.">C0042571</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal sensation of spinning while the body is actually stationary.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/53006">Feature record</a> | <a href="/medgen?term=%22Vertigo%22%5BClinical%20Features%5D%20OR%2053006%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9149"><div><strong>Headache</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9149</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.">C0018681</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9149">Feature record</a> | <a href="/medgen?term=%22Headache%22%5BClinical%20Features%5D%20OR%209149%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_146882"><div><strong>Myokymia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>146882</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.">C0684219</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Myokymia consists of involuntary, fine, continuous, undulating contractions that spread across the affected striated muscle.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/146882">Feature record</a> | <a href="/medgen?term=%22Myokymia%22%5BClinical%20Features%5D%20OR%20146882%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_314033"><div><strong>Hereditary episodic ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>314033</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.">C1720189</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/314033">Feature record</a> | <a href="/medgen?term=%22Hereditary%20episodic%20ataxia%22%5BClinical%20Features%5D%20OR%20314033%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57735"><div><strong>Muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57735</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.">C0151786</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced strength of muscles.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57735">Feature record</a> | <a href="/medgen?term=%22Muscle%20weakness%22%5BClinical%20Features%5D%20OR%2057735%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_41600"><div><strong>Diplopia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41600</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.">C0012569</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/41600">Feature record</a> | <a href="/medgen?term=%22Diplopia%22%5BClinical%20Features%5D%20OR%2041600%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10196" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nausea</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_12124" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vomiting</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_41600" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diplopia</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57735" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscle weakness</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9149" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Headache</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_314033" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary episodic ataxia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_146882" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myokymia</a></span></li></ul></li><li><span class="TLline">Ear malformation</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52760" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tinnitus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_53006" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vertigo</a></span></li></ul></li></ul></div></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><li><a href="#tabORDO">Orphanet</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="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1720189[DISCUI]&test_type=Clinical" ref="ncbi_uid=314033">C</a></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 Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=314033" ref="ncbi_uid=314033">V</a></span></span><span class="TLline"><a href="/medgen/314033" ref="tree=GTR&ncbi_uid=314033&link_uid=314033" title="View MedGen record for 'Hereditary episodic ataxia'">Hereditary episodic ataxia</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1719788[DISCUI]&test_type=Clinical" ref="ncbi_uid=318554">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=318554" target="_blank" href="/omim/160120">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1138%20OR%20NBK25442)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=318554">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=318554" ref="ncbi_uid=318554">V</a></span></span><span class="TLline"><a href="/medgen/318554" ref="tree=GTR&ncbi_uid=318554&link_uid=318554" title="View MedGen record for 'Episodic ataxia type 1'">Episodic ataxia type 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1720416[DISCUI]&test_type=Clinical" ref="ncbi_uid=314039">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=314039" target="_blank" href="/omim/108500">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1138/" ref="ncbi_uid=314039">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=314039" ref="ncbi_uid=314039">V</a></span></span><span class="TLline"><a href="/medgen/314039" ref="tree=GTR&ncbi_uid=314039&link_uid=314039" title="View MedGen record for 'Episodic ataxia type 2'">Episodic ataxia type 2</a></span></li><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 Ocolor" title="OMIM"><a ref="ncbi_uid=376220" target="_blank" href="/omim/606554">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1138/" ref="ncbi_uid=376220">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Episodic ataxia type 3</span></li><li class="TLclosed"><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 Ocolor" title="OMIM"><a ref="ncbi_uid=376222" target="_blank" href="/omim/606552">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1138/" ref="ncbi_uid=376222">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/376222" ref="tree=GTR&ncbi_uid=376222&link_uid=376222" title="View MedGen record for 'Episodic ataxia type 4'">Episodic ataxia type 4</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1866039[DISCUI]&test_type=Clinical" ref="ncbi_uid=356142">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=356142" target="_blank" href="/omim/601949">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1138/" ref="ncbi_uid=356142">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=356142" ref="ncbi_uid=356142">V</a></span></span><span class="TLline"><a href="/medgen/356142" ref="tree=GTR&ncbi_uid=356142&link_uid=356142" title="View MedGen record for 'Episodic ataxia type 5'">Episodic ataxia type 5</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2675211[DISCUI]&test_type=Clinical" ref="ncbi_uid=390739">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=390739" target="_blank" href="/omim/600111">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1138/" ref="ncbi_uid=390739">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=390739" ref="ncbi_uid=390739">V</a></span></span><span class="TLline"><a href="/medgen/390739" ref="tree=GTR&ncbi_uid=390739&link_uid=390739" title="View MedGen record for 'Episodic ataxia type 6'">Episodic ataxia type 6</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2677843[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=383209">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=383209" target="_blank" href="/omim/611907">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/383209" ref="tree=GTR&ncbi_uid=383209&link_uid=383209" title="View MedGen record for 'Episodic ataxia type 7'">Episodic ataxia type 7</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/105425" ref="tree=MeSH" title="MedGen record for Abnormality of the nervous system">Abnormality of the nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/868417" ref="tree=MeSH" title="MedGen record for Abnormal nervous system physiology">Abnormal nervous system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/868940" ref="tree=MeSH" title="MedGen record for Abnormal central motor function">Abnormal central motor function</a></span><ul><li><span class="TLline"><a href="/medgen/868939" ref="tree=MeSH" title="MedGen record for Abnormality of coordination">Abnormality of coordination</a></span><ul><li><span class="TLline"><a href="/medgen/849" ref="tree=MeSH" title="MedGen record for Cerebellar ataxia">Cerebellar ataxia</a></span><ul><li><span class="TLline"><a href="/medgen/314033" ref="tree=MeSH" title="MedGen record for Hereditary episodic ataxia">Hereditary episodic ataxia</a></span><ul><li><span class="matched_ds">Episodic ataxia type 3</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=11161&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Episodic ataxia type 3</span> in Orphanet.</div></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/35015204">Update on diagnosis and differential diagnosis of vestibular migraine.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shen Y,
|
||
Qi X</span><br />
|
||
<span class="medgenPMjournal">Neurol Sci</span>
|
||
2022 Mar;43(3):1659-1666.
|
||
Epub 2022 Jan 11
|
||
doi: 10.1007/s10072-022-05872-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35015204" target="_blank">35015204</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29440566">Comprehensive systematic review summary: Treatment of cerebellar motor dysfunction and ataxia: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zesiewicz TA,
|
||
Wilmot G,
|
||
Kuo SH,
|
||
Perlman S,
|
||
Greenstein PE,
|
||
Ying SH,
|
||
Ashizawa T,
|
||
Subramony SH,
|
||
Schmahmann JD,
|
||
Figueroa KP,
|
||
Mizusawa H,
|
||
Schöls L,
|
||
Shaw JD,
|
||
Dubinsky RM,
|
||
Armstrong MJ,
|
||
Gronseth GS,
|
||
Sullivan KL</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2018 Mar 6;90(10):464-471.
|
||
Epub 2018 Feb 9
|
||
doi: 10.1212/WNL.0000000000005055.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29440566" target="_blank">29440566</a><a href="/pmc/articles/PMC5863491" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29282702">Treatment of dizziness: an interdisciplinary update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spiegel R,
|
||
Rust H,
|
||
Baumann T,
|
||
Friedrich H,
|
||
Sutter R,
|
||
Göldlin M,
|
||
Rosin C,
|
||
Müri R,
|
||
Mantokoudis G,
|
||
Bingisser R,
|
||
Strupp M,
|
||
Kalla R</span><br />
|
||
<span class="medgenPMjournal">Swiss Med Wkly</span>
|
||
2017;147:w14566.
|
||
Epub 2017 Dec 27
|
||
doi: 10.4414/smw.2017.14566.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29282702" target="_blank">29282702</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(episodic%20ataxia%20type%203)%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 (5)</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/33066705">A Common Kinetic Property of Mutations Linked to Episodic Ataxia Type 1 Studied in the Shaker Kv Channel.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhao J,
|
||
Petitjean D,
|
||
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<div class="portlet_content ln"><span class="medgenPMauthor">Corbett MA,
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Bellows ST,
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Li M,
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Carroll R,
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Tellez J,
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<div class="portlet_content ln"><span class="medgenPMauthor">Choi KD,
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Jen JC,
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Choi SY,
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Shin JH,
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<div class="nl"><a target="_blank" href="/pubmed/27733563">Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Corbett MA,
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Bellows ST,
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Li M,
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Carroll R,
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Carvill GL,
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Myers CT,
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Howell KB,
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Maljevic S,
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<div class="portlet_content ln"><span class="medgenPMauthor">Richardson R,
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Baralle D,
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Bennett C,
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Briggs T,
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Clayton-Smith J,
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Constantinou P,
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Foulds N,
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Jewell R,
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Radley JA,
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Robertson L,
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Ruivenkamp C,
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Rutten JW,
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Tellez J,
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Wright M,
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<div class="portlet_content ln"><span class="medgenPMauthor">Choi KD,
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Jen JC,
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Choi SY,
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Shin JH,
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Kim HS,
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Kim HJ,
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Kim JS,
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Choi JH</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/27829685" target="_blank">27829685</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/27733563">Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Corbett MA,
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Bellows ST,
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Li M,
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Carroll R,
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Micallef S,
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Carvill GL,
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Myers CT,
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||
Howell KB,
|
||
Maljevic S,
|
||
Lerche H,
|
||
Gazina EV,
|
||
Mefford HC,
|
||
Bahlo M,
|
||
Berkovic SF,
|
||
Petrou S,
|
||
Scheffer IE,
|
||
Gecz J</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2016 Nov 8;87(19):1975-1984.
|
||
Epub 2016 Oct 12
|
||
doi: 10.1212/WNL.0000000000003309.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27733563" target="_blank">27733563</a><a href="/pmc/articles/PMC5109949" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24578548">Episodic ataxia type 1: clinical characterization, quality of life and genotype-phenotype correlation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Graves TD,
|
||
Cha YH,
|
||
Hahn AF,
|
||
Barohn R,
|
||
Salajegheh MK,
|
||
Griggs RC,
|
||
Bundy BN,
|
||
Jen JC,
|
||
Baloh RW,
|
||
Hanna MG;
|
||
CINCH Investigators</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2014 Apr;137(Pt 4):1009-18.
|
||
Epub 2014 Feb 26
|
||
doi: 10.1093/brain/awu012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24578548" target="_blank">24578548</a><a href="/pmc/articles/PMC3959554" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Episodic%20ataxia%20type%203%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 (20)</a></div></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/29440566">Comprehensive systematic review summary: Treatment of cerebellar motor dysfunction and ataxia: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zesiewicz TA,
|
||
Wilmot G,
|
||
Kuo SH,
|
||
Perlman S,
|
||
Greenstein PE,
|
||
Ying SH,
|
||
Ashizawa T,
|
||
Subramony SH,
|
||
Schmahmann JD,
|
||
Figueroa KP,
|
||
Mizusawa H,
|
||
Schöls L,
|
||
Shaw JD,
|
||
Dubinsky RM,
|
||
Armstrong MJ,
|
||
Gronseth GS,
|
||
Sullivan KL</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2018 Mar 6;90(10):464-471.
|
||
Epub 2018 Feb 9
|
||
doi: 10.1212/WNL.0000000000005055.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29440566" target="_blank">29440566</a><a href="/pmc/articles/PMC5863491" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Episodic%20ataxia%20type%203%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>
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