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Entry
- #601042 - DYSTONIA 9; DYT9
- OMIM
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<span class="h4">#601042</span>
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/601042"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS128100"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
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<a href="#clinicalManagement">Clinical Management</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#nomenclature">Nomenclature</a>
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<div><a href="https://clinicaltrials.gov/search?cond=DYSTONIA" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0090044" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0090044" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
<div><a href="https://zfin.org/ZDB-GENE-030131-3158" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
</div>
</div>
</div>
</div>
</div>
</div>
<span>
<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
&nbsp;
</span>
</span>
</div>
<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>SNOMEDCT:</strong> 715564000<br />
<strong>ORPHA:</strong> 53583<br />
<strong>DO:</strong> 0090044<br />
">ICD+</a>
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
601042
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
DYSTONIA 9; DYT9
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<a id="alternativeTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
CHOREOATHETOSIS/SPASTICITY, EPISODIC<br />
CSE CHOREOATHETOSIS, PAROXYSMAL, WITH EPISODIC ATAXIA<br />
CHOREOATHETOSIS, KINESIGENIC, WITH EPISODIC ATAXIA AND SPASTICITY
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/513?start=-3&limit=10&highlight=513">
1p34.2
</a>
</span>
</td>
<td>
<span class="mim-font">
Dystonia 9
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601042"> 601042 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
SLC2A1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/138140"> 138140 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/601042" class="btn btn-warning" role="button"> Clinical Synopsis </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<div class="btn-group">
<a href="/phenotypicSeries/PS128100" class="btn btn-info" role="button"> Phenotypic Series </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<div class="btn-group">
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
PheneGene Graphics <span class="caret"></span>
</button>
<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/601042" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/601042" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
</ul>
</div>
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Eyes </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Diplopia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/24982008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">24982008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H53.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H53.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/368.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">368.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0012569&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0012569</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000651" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000651</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000651" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000651</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> NEUROLOGIC </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Central Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Ataxia, episodic <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/421455009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">421455009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1720189&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1720189</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002131" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002131</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R27.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R27.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.84" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.84</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001251" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001251</a>]</span><br /> -
Spasticity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/221360009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">221360009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/397790002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">397790002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026838&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026838</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001257" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001257</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001257" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001257</a>]</span><br /> -
Dysarthria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8011004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8011004</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.13" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.13</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/784.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">784.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001260</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001260</a>]</span><br /> -
Dystonia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/15802004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">15802004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G24.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G24.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/G24" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G24</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013421&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013421</a>, <a href="https://bioportal.bioontology.org/search?q=C0393593&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0393593</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001332" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001332</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001332" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001332</a>]</span><br /> -
Involuntary movements <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/267078001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">267078001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0427086&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0427086</a>, <a href="https://bioportal.bioontology.org/search?q=C4050372&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4050372</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004305" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004305</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004305" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004305</a>]</span><br /> -
Dyskinesias <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/9748009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">9748009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G24.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G24.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/G24" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G24</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013384&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013384</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100660" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100660</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100660" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100660</a>]</span><br /> -
Choreoathetosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43105007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43105007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0085583&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085583</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001266" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001266</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001266" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001266</a>]</span><br /> -
Spastic paraplegia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/192967009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">192967009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0037772&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0037772</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001258" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001258</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001258" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001258</a>]</span><br /> -
Hyperreflexia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86854008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86854008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151889&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151889</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001347</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001347</a>]</span><br /> -
Pyramidal signs <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/14648003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">14648003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234132&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234132</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007256</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007256</a>]</span><br /> -
Tonic-clonic seizures (less common) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1217136003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1217136003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G40.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G40.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0494475&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0494475</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002069" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002069</a>]</span><br /> -
Migraine <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/37796009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">37796009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G43.909" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G43.909</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/G43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G43</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/G43.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G43.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/346" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">346</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/346.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">346.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0149931&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0149931</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002076" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002076</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002076" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002076</a>]</span><br /> -
Headache <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/25064002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">25064002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R51.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R51.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R51</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/784.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">784.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018681&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018681</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002315" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002315</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002315" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002315</a>]</span><br /> -
Cognitive impairment <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/386806002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">386806002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0338656&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0338656</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100543" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100543</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100543" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100543</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Peripheral Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Paresthesias <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91019004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91019004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0030554&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0030554</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003401" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003401</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003401" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003401</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Onset at 2 to 15 years<br /> -
Symptoms precipitated by stress, exertion, fatigue, alcohol<br /> -
Variable features<br /> -
Some patients respond to acetazolamide<br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MOLECULAR BASIS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Caused by mutation in the solute carrier family 2 (facilitated glucose transporter), member 1 gene (SLC2A1, <a href="/entry/138140#0018">138140.0018</a>)<br />
</span>
</div>
</div>
</div>
<div class="text-right">
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small">
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Dystonia
- <a href="/phenotypicSeries/PS128100">PS128100</a>
- 37 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/65?start=-3&limit=10&highlight=65"> 1p36.32-p36.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607671"> Dystonia 13, torsion </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607671"> 607671 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607671"> DYT13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607671"> 607671 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/373?start=-3&limit=10&highlight=373"> 1p35.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617282"> Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617282"> 617282 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608205"> MECR </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608205"> 608205 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/409?start=-3&limit=10&highlight=409"> 1p35.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/224500"> Dystonia 2, torsion, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/224500"> 224500 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/142622"> HPCA </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/142622"> 142622 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/513?start=-3&limit=10&highlight=513"> 1p34.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612126"> GLUT1 deficiency syndrome 2, childhood onset </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612126"> 612126 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/138140"> SLC2A1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/138140"> 138140 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/513?start=-3&limit=10&highlight=513"> 1p34.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601042"> Dystonia 9 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601042"> 601042 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/138140"> SLC2A1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/138140"> 138140 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/185?start=-3&limit=10&highlight=185"> 2p22.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619687"> Dystonia 33 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619687"> 619687 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/176871"> EIF2AK2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/176871"> 176871 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/614?start=-3&limit=10&highlight=614"> 2q14.3-q21.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614588"> Dystonia 21 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614588"> 614588 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614588"> DYT21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614588"> 614588 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/751?start=-3&limit=10&highlight=751"> 2q31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611147"> Paroxysmal nonkinesigenic dyskinesia 2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611147"> 611147 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611147"> PNKD2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611147"> 611147 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/819?start=-3&limit=10&highlight=819"> 2q31.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612067"> Dystonia 16 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612067"> 612067 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603424"> PRKRA </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603424"> 603424 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/1003?start=-3&limit=10&highlight=1003"> 2q35 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/118800"> Paroxysmal nonkinesigenic dyskinesia 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/118800"> 118800 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609023"> PNKD </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609023"> 609023 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/1149?start=-3&limit=10&highlight=1149"> 2q37.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616411"> Dystonia 27 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616411"> 616411 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/120250"> COL6A3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/120250"> 120250 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/461?start=-3&limit=10&highlight=461"> 3p13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619921"> ?Dystonia 35, childhood-onset </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619921"> 619921 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613663"> SHQ1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613663"> 613663 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/339?start=-3&limit=10&highlight=339"> 4q21.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620427"> Dystonia 37, early-onset, with striatal lesions </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620427"> 620427 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607607"> NUP54 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607607"> 607607 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/376?start=-3&limit=10&highlight=376"> 5q22.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619724"> ?Dystonia 34, myoclonic </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619724"> 619724 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605879"> KCNN2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605879"> 605879 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/425?start=-3&limit=10&highlight=425"> 7q21.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/159900"> Dystonia-11, myoclonic </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/159900"> 159900 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604149"> SGCE </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604149"> 604149 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/239?start=-3&limit=10&highlight=239"> 8p11.21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602629"> Dystonia 6, torsion </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602629"> 602629 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609520"> THAP1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609520"> 609520 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/326?start=-3&limit=10&highlight=326"> 9q22.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619565"> Dystonia 31 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619565"> 619565 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619600"> AOPEP </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619600"> 619600 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/514?start=-3&limit=10&highlight=514"> 9q34 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614860"> Dystonia 23 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614860"> 614860 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614860"> DYT23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614860"> 614860 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/571?start=-3&limit=10&highlight=571"> 9q34.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/128100"> Dystonia-1, torsion </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/128100"> 128100 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605204"> TOR1A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605204"> 605204 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/249?start=-3&limit=10&highlight=249"> 11p14.3-p14.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615034"> Dystonia 24 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615034"> 615034 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610110"> ANO3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610110"> 610110 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/629?start=-3&limit=10&highlight=629"> 11q13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620245"> Episodic kinesigenic dyskinesia 3 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620245"> 620245 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620108"> TMEM151A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620108"> 620108 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/1003?start=-3&limit=10&highlight=1003"> 11q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619637"> ?Dystonia 32 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619637"> 619637 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608549"> VPS11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608549"> 608549 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/252?start=-3&limit=10&highlight=252"> 14q22.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/128230"> Dystonia, DOPA-responsive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/128230"> 128230 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600225"> GCH1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600225"> 600225 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/330?start=-3&limit=10&highlight=330"> 16p11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/128200"> Episodic kinesigenic dyskinesia 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/128200"> 128200 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614386"> PRRT2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614386"> 614386 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/449?start=-3&limit=10&highlight=449"> 16q13-q22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611031"> Episodic kinesigenic dyskinesia 2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611031"> 611031 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611031"> EKD2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611031"> 611031 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/784?start=-3&limit=10&highlight=784"> 17q22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620456"> ?Dystonia 22, adult-onset </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620456"> 620456 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610764"> TSPOAP1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610764"> 610764 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/784?start=-3&limit=10&highlight=784"> 17q22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620453"> Dystonia 22, juvenile-onset </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620453"> 620453 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610764"> TSPOAP1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610764"> 610764 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/18/4?start=-3&limit=10&highlight=4"> 18p11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607488"> Dystonia-15, myoclonic </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607488"> 607488 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607488"> DYT15 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607488"> 607488 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/18/5?start=-3&limit=10&highlight=5"> 18p </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602124"> Dystonia-7, torsion </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602124"> 602124 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602124"> DYT7 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602124"> 602124 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/18/57?start=-3&limit=10&highlight=57"> 18p11.21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615073"> Dystonia 25 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615073"> 615073 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/139312"> GNAL </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/139312"> 139312 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/185?start=-3&limit=10&highlight=185"> 19p13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/128101"> Dystonia 4, torsion, autosomal dominant </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/128101"> 128101 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602662"> TUBB4A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602662"> 602662 </a>
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</td>
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<span class="mim-font">
<a href="/geneMap/19/595?start=-3&limit=10&highlight=595"> 19q13.12 </a>
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</td>
<td>
<span class="mim-font">
<a href="/entry/617284"> Dystonia 28, childhood-onset </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
<a href="/entry/617284"> 617284 </a>
</span>
</td>
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<span class="mim-font">
<a href="/entry/606834"> KMT2B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606834"> 606834 </a>
</span>
</td>
</tr>
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<span class="mim-font">
<a href="/geneMap/19/745?start=-3&limit=10&highlight=745"> 19q13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/128235"> Dystonia-12 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
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<span class="mim-font">
<a href="/entry/128235"> 128235 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/182350"> ATP1A3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/182350"> 182350 </a>
</span>
</td>
</tr>
<tr>
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<span class="mim-font">
<a href="/geneMap/20/40?start=-3&limit=10&highlight=40"> 20p13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619291"> Dystonia 30 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
<a href="/entry/619291"> 619291 </a>
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</td>
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<span class="mim-font">
<a href="/entry/608550"> VPS16 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608550"> 608550 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/116?start=-3&limit=10&highlight=116"> 20p11.2-q13.12 </a>
</span>
</td>
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<span class="mim-font">
<a href="/entry/612406"> Dystonia-17, primary torsion </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
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<td>
<span class="mim-font">
<a href="/entry/612406"> 612406 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612406"> DYT17 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612406"> 612406 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/22/234?start=-3&limit=10&highlight=234"> 22q12.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616398"> Dystonia 26, myoclonic </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616398"> 616398 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616386"> KCTD17 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616386"> 616386 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/410?start=-3&limit=10&highlight=410"> Xq13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/314250"> Dystonia-Parkinsonism, X-linked </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/314250"> 314250 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/313650"> TAF1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/313650"> 313650 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
<div class="text-right small">
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
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<a id="text" class="mim-anchor"></a>
<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon &lt;span class='glyphicon glyphicon-plus-sign'&gt;&lt;/span&gt at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
<strong>TEXT</strong>
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</h4>
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<p>A number sign (#) is used with this entry because dystonia-9 (DYT9) is caused by heterozygous mutation in the SLC2A1 gene (<a href="/entry/138140">138140</a>), also referred to as GLUT1, on chromosome 1p34.</p><p>Allelic disorders with overlapping features include GLUT1 deficiency syndrome-1 (GLUT1DS1; <a href="/entry/606777">606777</a>), GLUT1DS2 (<a href="/entry/612126">612126</a>), and idiopathic generalized epilepsy-12 (EIG12; <a href="/entry/614847">614847</a>).</p>
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</div>
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<div>
<a id="description" class="mim-anchor"></a>
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<strong>Description</strong>
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<p>Dystonia-9 is an autosomal dominant neurologic disorder characterized by childhood onset of paroxysmal choreoathetosis and progressive spastic paraplegia. Most show some degree of cognitive impairment. Other variable features may include seizures, migraine headaches, and ataxia (summary by <a href="#4" class="mim-tip-reference" title="Weber, Y. G., Kamm, C., Suls, A., Kempfle, J., Kotschet, K., Schule, R., Wuttke, T. V., Maljevic, S., Liebrich, J., Gasser, T., Ludolph, A. C., Van Paesschen, W., Schols, L., De Jonghe, P., Auburger, G., Lerche, H. &lt;strong&gt;Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect.&lt;/strong&gt; Neurology 77: 959-964, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21832227/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21832227&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/WNL.0b013e31822e0479&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21832227">Weber et al., 2011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21832227" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</div>
<div>
<a id="clinicalFeatures" class="mim-anchor"></a>
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<strong>Clinical Features</strong>
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<p><a href="#1" class="mim-tip-reference" title="Auburger, G., Ratzlaff, T., Lunkes, A., Nelles, H. W., Leube, B., Binkofski, F., Kugel, H., Heindel, W., Seitz, R., Benecke, R., Witte, O. W., Voit, T. &lt;strong&gt;A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197.&lt;/strong&gt; Genomics 31: 90-94, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8808284/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8808284&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1006/geno.1996.0013&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8808284">Auburger et al. (1996)</a> described a large German pedigree with autosomal dominant paroxysmal choreoathetosis and spasticity. A total of 18 affected and 11 unaffected family members were clinically evaluated. Age of onset ranged from 2 to 15 years, with most individuals presenting clear symptoms before attending school. Patients complained of episodes of involuntary movements, dystonic posture of toes, legs, and arms, imbalance, dysarthria, paresthesias periorally and on the lower limbs, and double vision, sometimes accompanied or followed by headache. Cerebellar ataxia was not seen in the episodes observed. The episodes lasted approximately 20 minutes, and occurred at frequencies ranging from twice a day to twice a year. Physical exercise, emotional stress, lack of sleep, and alcohol consumption were mentioned as precipitating factors. While physical examination was usually normal in the clinical interval, 5 patients exhibited constant spastic paraplegia as evidenced by spastic leg tone, increased tendon reflexes, and pyramidal signs in the lower limbs, without increased latencies on motor evoked potential analysis. Affected individuals were described as good natured and simple minded; 1 patient was 'analphabetic.' <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8808284" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Weber, Y. G., Kamm, C., Suls, A., Kempfle, J., Kotschet, K., Schule, R., Wuttke, T. V., Maljevic, S., Liebrich, J., Gasser, T., Ludolph, A. C., Van Paesschen, W., Schols, L., De Jonghe, P., Auburger, G., Lerche, H. &lt;strong&gt;Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect.&lt;/strong&gt; Neurology 77: 959-964, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21832227/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21832227&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/WNL.0b013e31822e0479&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21832227">Weber et al. (2011)</a> reported Australian adult monozygotic twin brothers with DYT9 and mental retardation. They presented with paroxysmal choreoathetosis and progressive spastic paraparesis; ataxia was not observed. As toddlers, they both developed episodic stereotyped, abnormal movements mainly affecting the limbs. The movements progressed to vigorous choreatic movements without impairment of consciousness. Episodes lasted between 5 minutes and 2 hours, and occurred several times weekly. Precipitating factors included prolonged exercise or physical exhaustion, dehydration, caffeine, alcohol, and anticipation of food. Medication was not beneficial for these episodes. In addition, both had a persistent gait disturbance due to progressive spastic paraparesis since later childhood, with markedly increased tone, sustained clonus, pyramidal pattern weakness, brisk reflexes, and extensor plantar responses. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21832227" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div>
<a id="inheritance" class="mim-anchor"></a>
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<span id="mimInheritanceToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
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<strong>Inheritance</strong>
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<div id="mimInheritanceFold" class="collapse in mimTextToggleFold">
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<p>The transmission pattern of paroxysmal choreoathetosis in the family reported by <a href="#1" class="mim-tip-reference" title="Auburger, G., Ratzlaff, T., Lunkes, A., Nelles, H. W., Leube, B., Binkofski, F., Kugel, H., Heindel, W., Seitz, R., Benecke, R., Witte, O. W., Voit, T. &lt;strong&gt;A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197.&lt;/strong&gt; Genomics 31: 90-94, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8808284/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8808284&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1006/geno.1996.0013&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8808284">Auburger et al. (1996)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8808284" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<br />
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<a id="clinicalManagement" class="mim-anchor"></a>
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<strong>Clinical Management</strong>
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<p><a href="#2" class="mim-tip-reference" title="Bain, P. G., O&#x27;Brien, M. D., Keevil, S. F., Porter, D. A. &lt;strong&gt;Familial periodic cerebellar ataxia: a problem of cerebellar intracellular pH homeostasis.&lt;/strong&gt; Ann. Neurol. 31: 147-154, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1575453/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1575453&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ana.410310205&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1575453">Bain et al. (1992)</a> demonstrated a rise in pH in the cerebellum with (31)P nuclear magnetic resonance spectroscopy in 6 affected members of 2 unrelated families with familial periodic cerebellar ataxia consistent with ataxia (see <a href="/entry/108500">108500</a>). Consistent with this finding, acetazolamide stopped or alleviated symptoms. In contrast, <a href="#1" class="mim-tip-reference" title="Auburger, G., Ratzlaff, T., Lunkes, A., Nelles, H. W., Leube, B., Binkofski, F., Kugel, H., Heindel, W., Seitz, R., Benecke, R., Witte, O. W., Voit, T. &lt;strong&gt;A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197.&lt;/strong&gt; Genomics 31: 90-94, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8808284/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8808284&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1006/geno.1996.0013&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8808284">Auburger et al. (1996)</a> found no clear elevation of pH in their family. They stated, however, that episodes ceased in one patient after administration of acetazolamide and phenytoin and were ameliorated in a second patient by acetazolamide but continued in a third patient despite treatment with a range of agents. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1575453+8808284" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</div>
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<div>
<a id="mapping" class="mim-anchor"></a>
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<strong>Mapping</strong>
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</h4>
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<div id="mimMappingFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p>By linkage analysis in a large pedigree with paroxysmal choreoathetosis with episodic ataxia and spasticity, <a href="#1" class="mim-tip-reference" title="Auburger, G., Ratzlaff, T., Lunkes, A., Nelles, H. W., Leube, B., Binkofski, F., Kugel, H., Heindel, W., Seitz, R., Benecke, R., Witte, O. W., Voit, T. &lt;strong&gt;A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197.&lt;/strong&gt; Genomics 31: 90-94, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8808284/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8808284&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1006/geno.1996.0013&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8808284">Auburger et al. (1996)</a> concluded that the gene for this disorder probably lies in a 2-cM region between D1S443 and D1S197. They noted that a cluster of potassium channel genes is located on 1p. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8808284" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="molecularGenetics" class="mim-anchor"></a>
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<strong>Molecular Genetics</strong>
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<p>In affected members of the family with DYT9 originally reported by <a href="#1" class="mim-tip-reference" title="Auburger, G., Ratzlaff, T., Lunkes, A., Nelles, H. W., Leube, B., Binkofski, F., Kugel, H., Heindel, W., Seitz, R., Benecke, R., Witte, O. W., Voit, T. &lt;strong&gt;A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197.&lt;/strong&gt; Genomics 31: 90-94, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8808284/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8808284&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1006/geno.1996.0013&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8808284">Auburger et al. (1996)</a>, <a href="#4" class="mim-tip-reference" title="Weber, Y. G., Kamm, C., Suls, A., Kempfle, J., Kotschet, K., Schule, R., Wuttke, T. V., Maljevic, S., Liebrich, J., Gasser, T., Ludolph, A. C., Van Paesschen, W., Schols, L., De Jonghe, P., Auburger, G., Lerche, H. &lt;strong&gt;Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect.&lt;/strong&gt; Neurology 77: 959-964, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21832227/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21832227&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/WNL.0b013e31822e0479&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21832227">Weber et al. (2011)</a> identified a heterozygous mutation in the SLC2A1 gene (R232C; <a href="/entry/138140#0018">138140.0018</a>). Two Australian brothers with the disorder carried a different heterozygous mutation (R126C; <a href="/entry/138140#0014">138140.0014</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8808284+21832227" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Nomenclature</strong>
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<p><a href="#3" class="mim-tip-reference" title="Muller, U., Steinberger, D., Nemeth, A. H. &lt;strong&gt;Clinical and molecular genetics of primary dystonias.&lt;/strong&gt; Neurogenetics 1: 165-177, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10737119/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10737119&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s100480050025&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10737119">Muller et al. (1998)</a> referred to this disorder as dystonia-9 and suggested that it is closely related to paroxysmal dystonic choreoathetosis (PDC; <a href="/entry/118800">118800</a>), which they referred to as dystonia-8. The involuntary movements and dystonia in DYT9 are similar to those in PDC, which maps to chromosome 2. In both disorders, episodes can be induced by alcohol, fatigue, and emotional stress; however, in DYT9, physical exercise can precipitate the episodes, and 5 of the 18 patients studied by <a href="#1" class="mim-tip-reference" title="Auburger, G., Ratzlaff, T., Lunkes, A., Nelles, H. W., Leube, B., Binkofski, F., Kugel, H., Heindel, W., Seitz, R., Benecke, R., Witte, O. W., Voit, T. &lt;strong&gt;A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197.&lt;/strong&gt; Genomics 31: 90-94, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8808284/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8808284&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1006/geno.1996.0013&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8808284">Auburger et al. (1996)</a> had spastic paraplegia both during and between episodes of dyskinesia. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8808284+10737119" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
<a id="Auburger1996" class="mim-anchor"></a>
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Auburger, G., Ratzlaff, T., Lunkes, A., Nelles, H. W., Leube, B., Binkofski, F., Kugel, H., Heindel, W., Seitz, R., Benecke, R., Witte, O. W., Voit, T.
<strong>A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197.</strong>
Genomics 31: 90-94, 1996.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8808284/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8808284</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8808284" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1006/geno.1996.0013" target="_blank">Full Text</a>]
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<a id="Bain1992" class="mim-anchor"></a>
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Bain, P. G., O'Brien, M. D., Keevil, S. F., Porter, D. A.
<strong>Familial periodic cerebellar ataxia: a problem of cerebellar intracellular pH homeostasis.</strong>
Ann. Neurol. 31: 147-154, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1575453/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1575453</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1575453" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ana.410310205" target="_blank">Full Text</a>]
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<a id="Muller1998" class="mim-anchor"></a>
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Muller, U., Steinberger, D., Nemeth, A. H.
<strong>Clinical and molecular genetics of primary dystonias.</strong>
Neurogenetics 1: 165-177, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10737119/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10737119</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10737119" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/s100480050025" target="_blank">Full Text</a>]
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<a id="4" class="mim-anchor"></a>
<a id="Weber2011" class="mim-anchor"></a>
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Weber, Y. G., Kamm, C., Suls, A., Kempfle, J., Kotschet, K., Schule, R., Wuttke, T. V., Maljevic, S., Liebrich, J., Gasser, T., Ludolph, A. C., Van Paesschen, W., Schols, L., De Jonghe, P., Auburger, G., Lerche, H.
<strong>Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect.</strong>
Neurology 77: 959-964, 2011.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21832227/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21832227</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21832227" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1212/WNL.0b013e31822e0479" target="_blank">Full Text</a>]
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<a id="contributors" class="mim-anchor"></a>
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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Cassandra L. Kniffin - updated : 10/4/2012
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Victor A. McKusick - updated : 5/5/1998<br>Orest Hurko - updated : 4/1/1996
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Creation Date:
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Victor A. McKusick : 2/6/1996
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carol : 05/11/2017
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joanna : 05/10/2013<br>carol : 10/9/2012<br>ckniffin : 10/4/2012<br>ckniffin : 10/4/2012<br>alopez : 4/6/2010<br>joanna : 3/18/2004<br>carol : 5/22/1998<br>carol : 5/16/1998<br>carol : 5/13/1998<br>terry : 5/5/1998<br>terry : 11/11/1997<br>terry : 11/11/1997<br>alopez : 6/11/1997<br>mark : 12/20/1996<br>jamie : 12/18/1996<br>mark : 12/11/1996<br>mark : 6/19/1996<br>terry : 4/15/1996<br>terry : 4/1/1996<br>terry : 3/22/1996<br>mark : 2/7/1996<br>mark : 2/7/1996
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<strong>#</strong> 601042
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DYSTONIA 9; DYT9
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<em>Alternative titles; symbols</em>
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CHOREOATHETOSIS/SPASTICITY, EPISODIC<br />
CSE CHOREOATHETOSIS, PAROXYSMAL, WITH EPISODIC ATAXIA<br />
CHOREOATHETOSIS, KINESIGENIC, WITH EPISODIC ATAXIA AND SPASTICITY
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<strong>SNOMEDCT:</strong> 715564000; &nbsp;
<strong>ORPHA:</strong> 53583; &nbsp;
<strong>DO:</strong> 0090044; &nbsp;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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1p34.2
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Dystonia 9
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601042
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Autosomal dominant
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3
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SLC2A1
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138140
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because dystonia-9 (DYT9) is caused by heterozygous mutation in the SLC2A1 gene (138140), also referred to as GLUT1, on chromosome 1p34.</p><p>Allelic disorders with overlapping features include GLUT1 deficiency syndrome-1 (GLUT1DS1; 606777), GLUT1DS2 (612126), and idiopathic generalized epilepsy-12 (EIG12; 614847).</p>
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<strong>Description</strong>
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<p>Dystonia-9 is an autosomal dominant neurologic disorder characterized by childhood onset of paroxysmal choreoathetosis and progressive spastic paraplegia. Most show some degree of cognitive impairment. Other variable features may include seizures, migraine headaches, and ataxia (summary by Weber et al., 2011). </p>
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<strong>Clinical Features</strong>
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<p>Auburger et al. (1996) described a large German pedigree with autosomal dominant paroxysmal choreoathetosis and spasticity. A total of 18 affected and 11 unaffected family members were clinically evaluated. Age of onset ranged from 2 to 15 years, with most individuals presenting clear symptoms before attending school. Patients complained of episodes of involuntary movements, dystonic posture of toes, legs, and arms, imbalance, dysarthria, paresthesias periorally and on the lower limbs, and double vision, sometimes accompanied or followed by headache. Cerebellar ataxia was not seen in the episodes observed. The episodes lasted approximately 20 minutes, and occurred at frequencies ranging from twice a day to twice a year. Physical exercise, emotional stress, lack of sleep, and alcohol consumption were mentioned as precipitating factors. While physical examination was usually normal in the clinical interval, 5 patients exhibited constant spastic paraplegia as evidenced by spastic leg tone, increased tendon reflexes, and pyramidal signs in the lower limbs, without increased latencies on motor evoked potential analysis. Affected individuals were described as good natured and simple minded; 1 patient was 'analphabetic.' </p><p>Weber et al. (2011) reported Australian adult monozygotic twin brothers with DYT9 and mental retardation. They presented with paroxysmal choreoathetosis and progressive spastic paraparesis; ataxia was not observed. As toddlers, they both developed episodic stereotyped, abnormal movements mainly affecting the limbs. The movements progressed to vigorous choreatic movements without impairment of consciousness. Episodes lasted between 5 minutes and 2 hours, and occurred several times weekly. Precipitating factors included prolonged exercise or physical exhaustion, dehydration, caffeine, alcohol, and anticipation of food. Medication was not beneficial for these episodes. In addition, both had a persistent gait disturbance due to progressive spastic paraparesis since later childhood, with markedly increased tone, sustained clonus, pyramidal pattern weakness, brisk reflexes, and extensor plantar responses. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of paroxysmal choreoathetosis in the family reported by Auburger et al. (1996) was consistent with autosomal dominant inheritance. </p>
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<strong>Clinical Management</strong>
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<p>Bain et al. (1992) demonstrated a rise in pH in the cerebellum with (31)P nuclear magnetic resonance spectroscopy in 6 affected members of 2 unrelated families with familial periodic cerebellar ataxia consistent with ataxia (see 108500). Consistent with this finding, acetazolamide stopped or alleviated symptoms. In contrast, Auburger et al. (1996) found no clear elevation of pH in their family. They stated, however, that episodes ceased in one patient after administration of acetazolamide and phenytoin and were ameliorated in a second patient by acetazolamide but continued in a third patient despite treatment with a range of agents. </p>
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<strong>Mapping</strong>
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<p>By linkage analysis in a large pedigree with paroxysmal choreoathetosis with episodic ataxia and spasticity, Auburger et al. (1996) concluded that the gene for this disorder probably lies in a 2-cM region between D1S443 and D1S197. They noted that a cluster of potassium channel genes is located on 1p. </p>
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<span class="mim-font">
<strong>Molecular Genetics</strong>
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<p>In affected members of the family with DYT9 originally reported by Auburger et al. (1996), Weber et al. (2011) identified a heterozygous mutation in the SLC2A1 gene (R232C; 138140.0018). Two Australian brothers with the disorder carried a different heterozygous mutation (R126C; 138140.0014). </p>
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<h4>
<span class="mim-font">
<strong>Nomenclature</strong>
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<p>Muller et al. (1998) referred to this disorder as dystonia-9 and suggested that it is closely related to paroxysmal dystonic choreoathetosis (PDC; 118800), which they referred to as dystonia-8. The involuntary movements and dystonia in DYT9 are similar to those in PDC, which maps to chromosome 2. In both disorders, episodes can be induced by alcohol, fatigue, and emotional stress; however, in DYT9, physical exercise can precipitate the episodes, and 5 of the 18 patients studied by Auburger et al. (1996) had spastic paraplegia both during and between episodes of dyskinesia. </p>
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<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
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</h4>
<div>
<p />
</div>
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<ol>
<li>
<p class="mim-text-font">
Auburger, G., Ratzlaff, T., Lunkes, A., Nelles, H. W., Leube, B., Binkofski, F., Kugel, H., Heindel, W., Seitz, R., Benecke, R., Witte, O. W., Voit, T.
<strong>A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197.</strong>
Genomics 31: 90-94, 1996.
[PubMed: 8808284]
[Full Text: https://doi.org/10.1006/geno.1996.0013]
</p>
</li>
<li>
<p class="mim-text-font">
Bain, P. G., O'Brien, M. D., Keevil, S. F., Porter, D. A.
<strong>Familial periodic cerebellar ataxia: a problem of cerebellar intracellular pH homeostasis.</strong>
Ann. Neurol. 31: 147-154, 1992.
[PubMed: 1575453]
[Full Text: https://doi.org/10.1002/ana.410310205]
</p>
</li>
<li>
<p class="mim-text-font">
Muller, U., Steinberger, D., Nemeth, A. H.
<strong>Clinical and molecular genetics of primary dystonias.</strong>
Neurogenetics 1: 165-177, 1998.
[PubMed: 10737119]
[Full Text: https://doi.org/10.1007/s100480050025]
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<p class="mim-text-font">
Weber, Y. G., Kamm, C., Suls, A., Kempfle, J., Kotschet, K., Schule, R., Wuttke, T. V., Maljevic, S., Liebrich, J., Gasser, T., Ludolph, A. C., Van Paesschen, W., Schols, L., De Jonghe, P., Auburger, G., Lerche, H.
<strong>Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect.</strong>
Neurology 77: 959-964, 2011.
[PubMed: 21832227]
[Full Text: https://doi.org/10.1212/WNL.0b013e31822e0479]
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Cassandra L. Kniffin - updated : 10/4/2012<br>Victor A. McKusick - updated : 5/5/1998<br>Orest Hurko - updated : 4/1/1996
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