4724 lines
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Entry
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- #118800 - PAROXYSMAL NONKINESIGENIC DYSKINESIA 1; PNKD1
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- OMIM
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<p>
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<span class="h4">#118800</span>
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<br />
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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/118800"><strong>Clinical Synopsis</strong></a>
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<li role="presentation">
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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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<a href="#mapping">Mapping</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</h4>
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<div style="display: table-cell;">Clinical Resources</div>
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</a>
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</span>
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</span>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=PAROXYSMAL NONKINESIGENIC DYSKINESIA" 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.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=13827&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1221/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/9093" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=118800[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98810" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0090049" 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="http://www.informatics.jax.org/disease/118800" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<span>
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<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.">
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</div>
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<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">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 98810<br />
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<strong>DO:</strong> 0090049<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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118800
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
|
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<span class="mim-font">
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PAROXYSMAL NONKINESIGENIC DYSKINESIA 1; PNKD1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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PAROXYSMAL DYSTONIC CHOREOATHETOSIS; PDC<br />
|
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CHOREOATHETOSIS, FAMILIAL PAROXYSMAL; FPD1<br />
|
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MOUNT-REBACK SYNDROME<br />
|
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CHOREOATHETOSIS, NONKINESIGENIC<br />
|
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DYSTONIA 8; DYT8
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
|
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Phenotype <br /> MIM number
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</th>
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<th>
|
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Inheritance
|
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</th>
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<th>
|
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
|
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<span class="mim-font">
|
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<a href="/geneMap/2/1003?start=-3&limit=10&highlight=1003">
|
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2q35
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</a>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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Paroxysmal nonkinesigenic dyskinesia 1
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</span>
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</td>
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<td>
|
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<span class="mim-font">
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<a href="/entry/118800"> 118800 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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PNKD
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/609023"> 609023 </a>
|
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</span>
|
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/118800" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<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')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<a href="/phenotypicSeries/PS128100" class="btn btn-info" role="button"> Phenotypic Series </a>
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<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')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/118800" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/118800" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<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>
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<div>
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<p />
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- 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 />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> HEAD & NECK </strong>
|
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
|
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<em> Face </em>
|
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</span>
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</div>
|
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
|
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|
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- Facial grimacing <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/37126005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">37126005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234853&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234853</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000273" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000273</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000273" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000273</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
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<em> Neck </em>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Torticollis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/70070008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">70070008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M43.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M43.6</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/723.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">723.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0040485&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0040485</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000473" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000473</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000473" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000473</a>]</span><br />
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|
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</span>
|
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</div>
|
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</div>
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</div>
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</div>
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<div>
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Dystonia, episodic <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/230310003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">230310003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0393588&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0393588</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002268" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002268</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">[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 /> -
|
|
Choreoathetosis, episodic <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/49949003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">49949003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851936&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851936</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007098" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007098</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007098" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007098</a>]</span><br /> -
|
|
Involuntary movements of extremities, neck, trunk, and/or face <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861561&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861561</a>]</span><br /> -
|
|
Episodes begin with muscle tightening <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861562&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861562</a>]</span><br /> -
|
|
Myokymia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/27678003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">27678003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0684219&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0684219</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002411" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002411</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002411" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002411</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 /> -
|
|
Dysphagia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/288939007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">288939007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/40739000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">40739000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R13.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R13.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R13.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R13.10</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/787.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">787.2</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/787.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">787.20</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011168&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011168</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002015" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002015</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002015" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002015</a>]</span><br /> -
|
|
Episodes may last less than 30 minutes or greater than several hours <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861563&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861563</a>]</span><br /> -
|
|
Episodes typically occur several times a week <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861564&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861564</a>]</span><br />
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|
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</span>
|
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</div>
|
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</div>
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</div>
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</div>
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<div>
|
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
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</div>
|
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<div style="margin-left: 2em;">
|
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|
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<div>
|
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<span class="mim-font">
|
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|
|
- Onset in infancy or childhood<br /> -
|
|
Symptoms precipitated by alcohol, caffeine, fatigue, stress, exertion, ovulation, menstruation<br /> -
|
|
Frequency and severity of symptoms do not worsen with age<br /> -
|
|
Clonazepam and diazepam may be effective in preventing or lessening severity<br />
|
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|
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</span>
|
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</div>
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</div>
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</div>
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<div>
|
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<div>
|
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<span class="h5 mim-font">
|
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<strong> MOLECULAR BASIS </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
|
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|
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<div>
|
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<span class="mim-font">
|
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|
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- Caused by mutation in the PNKD metallo-beta-lactamase domain-containing protein gene (PNKD, <a href="/entry/609023#0001">609023.0001</a>)<br />
|
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|
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</span>
|
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</div>
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</div>
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</div>
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<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
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</div>
|
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</div>
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</div>
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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
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<div class="row">
|
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<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
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<h5>
|
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Dystonia
|
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- <a href="/phenotypicSeries/PS128100">PS128100</a>
|
|
- 37 Entries
|
|
</h5>
|
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</div>
|
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</div>
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<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
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<table class="table table-bordered table-condensed table-hover mim-table-padding">
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<thead>
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<tr>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Location</strong>
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</th>
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<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
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<strong>Phenotype</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
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<strong>Inheritance</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
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<strong>Phenotype<br />MIM number</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Gene/Locus</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
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<strong>Gene/Locus<br />MIM number</strong>
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</th>
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</tr>
|
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</thead>
|
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<tbody>
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|
|
|
<tr>
|
|
<td>
|
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<span class="mim-font">
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|
|
<a href="/geneMap/1/65?start=-3&limit=10&highlight=65"> 1p36.32-p36.13 </a>
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</span>
|
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</td>
|
|
<td>
|
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<span class="mim-font">
|
|
<a href="/entry/607671"> Dystonia 13, torsion </a>
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
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|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
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|
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</span>
|
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</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>
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|
</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>
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|
|
|
</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>
|
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|
|
</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>
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|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/376?start=-3&limit=10&highlight=376"> 5q22.3 </a>
|
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|
|
</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>
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<span class="mim-font">
|
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<a href="/entry/620453"> Dystonia 22, juvenile-onset </a>
|
|
</span>
|
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</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>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620453"> 620453 </a>
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
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<a href="/entry/610764"> TSPOAP1 </a>
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610764"> 610764 </a>
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</span>
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</td>
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</tr>
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<tr>
|
|
<td>
|
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<span class="mim-font">
|
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|
|
<a href="/geneMap/17/784?start=-3&limit=10&highlight=784"> 17q22 </a>
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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620456"> ?Dystonia 22, adult-onset </a>
|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
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|
</span>
|
|
</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/620456"> 620456 </a>
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610764"> TSPOAP1 </a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/610764"> 610764 </a>
|
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</span>
|
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</td>
|
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</tr>
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|
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<tr>
|
|
<td>
|
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<span class="mim-font">
|
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<a href="/geneMap/18/4?start=-3&limit=10&highlight=4"> 18p11 </a>
|
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|
|
</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>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/595?start=-3&limit=10&highlight=595"> 19q13.12 </a>
|
|
|
|
</span>
|
|
</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>
|
|
<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/617284"> 617284 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<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>
|
|
|
|
<tr>
|
|
<td>
|
|
<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>
|
|
</td>
|
|
<td>
|
|
<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>
|
|
<td>
|
|
<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>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619291"> 619291 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<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>
|
|
<td>
|
|
<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>
|
|
<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/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>
|
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</tr>
|
|
|
|
</tbody>
|
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</table>
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</div>
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<div class="text-right small">
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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<div>
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<br />
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that paroxysmal nonkinesigenic dyskinesia-1 (PNKD1) is caused by heterozygous mutation in the MR1 gene (PNKD; <a href="/entry/609023">609023</a>) on chromosome 2q35.</p>
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<div>
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<br />
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</div>
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<div>
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<a id="description" class="mim-anchor"></a>
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<p>Paroxysmal nonkinesigenic dyskinesia-1 (PNKD1) is an autosomal dominant movement disorder characterized by attacks of dystonia, chorea, and athetosis. Attacks may be precipitated by stress, fatigue, caffeine, alcohol, ovulation, or menstruation, and may last minutes to hours (summary by <a href="#3" class="mim-tip-reference" title="Chen, D.-H., Matsushita, M., Rainier, S., Meaney, B., Tisch, L., Feleke, A., Wolff, J., Lipe, H., Fink, J., Bird, T. D., Raskind, W. H. <strong>Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia.</strong> Arch. Neurol. 62: 597-600, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15824259/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15824259</a>] [<a href="https://doi.org/10.1001/archneur.62.4.597" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15824259">Chen et al., 2005</a>, <a href="#8" class="mim-tip-reference" title="Ghezzi, D., Viscomi, C., Ferlini, A., Gualandi, F., Mereghetti, P., DeGrandis, D., Zeviani, M. <strong>Paroxysmal non-kinesigenic dyskinesia is caused by mutation of the MR-1 mitochondrial targeting sequence.</strong> Hum. Molec. Genet. 18: 1058-1064, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19124534/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19124534</a>] [<a href="https://doi.org/10.1093/hmg/ddn441" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19124534">Ghezzi et al., 2009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15824259+19124534" 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><strong><em>Genetic Heterogeneity of Paroxysmal Nonkinesigenic Dyskinesia</em></strong></p><p>
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See also PNKD2 (<a href="/entry/611147">611147</a>), mapped to chromosome 2q31, and PNKD3 (<a href="/entry/609446">609446</a>), caused by mutation in the KCNMA1 gene (<a href="/entry/600150">600150</a>) on chromosome 10q22.</p>
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<p><a href="#13" class="mim-tip-reference" title="Mount, L. A., Reback, S. <strong>Familial paroxysmal choreoathetosis: preliminary report on a hitherto undescribed clinical syndrome.</strong> Arch. Neurol. Psychiat. 44: 841-847, 1940."None>Mount and Reback (1940)</a> described a family with many members in 5 generations affected by paroxysmal choreoathetosis which was thought to be separate from Huntington chorea. The attacks lasted only a few minutes, occurred a few times a day, and were not accompanied by unconsciousness. Alcohol, coffee, hunger, fatigue, and tobacco were precipitating factors. Affected persons were said to be scattered throughout the southern U.S. from South Carolina to Oklahoma. <a href="#20" class="mim-tip-reference" title="Wagner, G. S., McLees, B. D., Hatcher, M. A., Jr. <strong>Familial paroxysmal choreo-athetosis. (Abstract)</strong> Neurology 16: 307, 1966."None>Wagner et al. (1966)</a> observed affected persons in 3 generations. <a href="#18" class="mim-tip-reference" title="Richards, R. N., Barnett, H. J. <strong>Paroxysmal dystonic choreoathetosis: a family study and review of the literature.</strong> Neurology 18: 461-469, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5691173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5691173</a>] [<a href="https://doi.org/10.1212/wnl.18.5.461" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5691173">Richards and Barnett (1968)</a> suggested that it be called paroxysmal dystonic choreoathetosis to distinguish it from the more frequently reported movement-induced (kinetogenic) familial (or nonfamilial) paroxysmal choreoathetosis with which it is often confused. They also suggested use of the eponym Mount-Reback for the dystonic form. <a href="#14" class="mim-tip-reference" title="Muller, U., Kupke, K. G. <strong>The genetics of primary torsion dystonia.</strong> Hum. Genet. 84: 107-115, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2404852/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2404852</a>] [<a href="https://doi.org/10.1007/BF00208922" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2404852">Muller and Kupke (1990)</a> referred to this disorder as paroxysmal dystonic choreoathetosis. See familial paroxysmal dystonia (<a href="/entry/128200">128200</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2404852+5691173" 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="#21" class="mim-tip-reference" title="Walker, E. S. <strong>Familial paroxysmal dystonic choreoathetosis: a neurologic disorder simulating psychiatric illness.</strong> Johns Hopkins Med. J. 148: 108-113, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7206405/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7206405</a>]" pmid="7206405">Walker (1981)</a> provided follow-up on the Mount-Reback kindred. He observed a son and daughter of their proband. The movement disorder could be recognized in the first week of life. The attacks were usually preceded by an aura. The Canadian family reported by <a href="#18" class="mim-tip-reference" title="Richards, R. N., Barnett, H. J. <strong>Paroxysmal dystonic choreoathetosis: a family study and review of the literature.</strong> Neurology 18: 461-469, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5691173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5691173</a>] [<a href="https://doi.org/10.1212/wnl.18.5.461" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5691173">Richards and Barnett (1968)</a> was the only one <a href="#21" class="mim-tip-reference" title="Walker, E. S. <strong>Familial paroxysmal dystonic choreoathetosis: a neurologic disorder simulating psychiatric illness.</strong> Johns Hopkins Med. J. 148: 108-113, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7206405/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7206405</a>]" pmid="7206405">Walker (1981)</a> considered identical to that of Mount and Reback. <a href="#21" class="mim-tip-reference" title="Walker, E. S. <strong>Familial paroxysmal dystonic choreoathetosis: a neurologic disorder simulating psychiatric illness.</strong> Johns Hopkins Med. J. 148: 108-113, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7206405/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7206405</a>]" pmid="7206405">Walker (1981)</a> raised the possibility that these 2 kindreds are related because of similar origin in the British Isles and commonality of some family names. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5691173+7206405" 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="#2" class="mim-tip-reference" title="Byrne, E., White, O., Cook, M. <strong>Familial dystonic choreoathetosis with myokymia; a sleep responsive disorder.</strong> J. Neurol. Neurosurg. Psychiat. 54: 1090-1092, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1783923/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1783923</a>] [<a href="https://doi.org/10.1136/jnnp.54.12.1090" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1783923">Byrne et al. (1991)</a> presented a family with paroxysmal dystonic choreoathetosis transmitted as a dominant trait through 5 generations. The family was unusual in that several of the affected members showed interruption of the episodes by short periods of sleep. Also, age of onset was highly variable and some of the affected persons showed prominent myokymia. The overlapping features suggested a relationship between this disorder and familial paroxysmal ataxia with myokymia (<a href="/entry/160120">160120</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1783923" 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="Demirkiran, M., Jankovic, J. <strong>Paroxysmal dyskinesias: clinical features and classification.</strong> Ann. Neurol. 38: 571-579, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7574453/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7574453</a>] [<a href="https://doi.org/10.1002/ana.410380405" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7574453">Demirkiran and Jankovic (1995)</a> studied 46 patients with paroxysmal dyskinesias. They introduced a new classification: kinesigenic, induced by movement; nonkinesigenic, exertion-induced; and hypnogenic, induced by sleep. Of their 46 patients, only 2 had a positive family history, 1 with kinesigenic, the other with hypnogenic dyskinesia. In the 23 other patients in which an etiology could be identified, this included psychogenic, cerebrovascular, multiple sclerosis, encephalitis, cerebral trauma, peripheral trauma, migraine, and kernicterus. Patients with kinesigenic dyskinesias responded more frequently to anticonvulsant medication than those with nonkinesigenic dyskinesias. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7574453" 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="#6" class="mim-tip-reference" title="Fink, J. K., Rainier, S., Wilkowski, J., Jones, S. M., Kume, A., Hedera, P., Albin, R., Mathay, J., Girbach, L., Varvil, T., Otterud, B., Leppert, M. <strong>Paroxysmal dystonic choreoathetosis: tight linkage to chromosome 2q.</strong> Am. J. Hum. Genet. 59: 140-145, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8659518/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8659518</a>]" pmid="8659518">Fink et al. (1996)</a> reported a large Polish-American family with PDC. Symptom onset occurred by age 2 years and persisted throughout life. Paroxysmal dyskinesia began as a sense of muscle tightening, typically in an extremity, followed by dystonic posturing and choreoathetoid movements of that extremity. Involuntary movements also affected the face, jaw, and tongue, resulting in dysarthria or dysphagia. The duration of spells ranged from less than 30 minutes to greater than several hours, and occurred up to several times a week, at rest, both spontaneously and following caffeine and alcohol consumption. Clonazepam and diazepam were moderately effective in preventing attacks or lessening their severity. Neurologic examinations between episodes were normal, and there was no disturbance of consciousness during episodes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8659518" 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="#15" class="mim-tip-reference" title="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://doi.org/10.1007/s100480050025" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10737119">Muller et al. (1998)</a> pointed out the close similarity between this disorder, which the authors referred to as dystonia-8, and that referred to elsewhere as episodic choreoathetosis/spasticity (CSE; <a href="/entry/601042">601042</a>). <a href="#15" class="mim-tip-reference" title="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://doi.org/10.1007/s100480050025" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10737119">Muller et al. (1998)</a> referred to CSE, which maps to 1p, as dystonia-9. CSE has episodic ataxia as an additional feature, but the involuntary movements and dystonia are similar to those of PDC. In both disorders, episodes can be induced by alcohol, fatigue, and emotional stress; however, in CSE, physical exercise can also precipitate episodes, and some patients with CSE have spastic paraplegia both during and between episodes of dyskinesia. <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'})"><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="#1" class="mim-tip-reference" title="Bruno, M. K., Lee, H.-Y., Auburger, G. W. J., Friedman, A., Nielsen, J. E., Lang, A. E., Bertini, E., Van Bogaert, P., Averyanov, Y., Hallett, M., Gwinn-Hardy, K., Sorenson, B., Pandolfo, M., Kwiecinski, H., Servidei, S., Fu, Y.-H., Ptacek, L. <strong>Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia.</strong> Neurology 68: 1782-1789, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17515540/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17515540</a>] [<a href="https://doi.org/10.1212/01.wnl.0000262029.91552.e0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17515540">Bruno et al. (2007)</a> compared the clinical features of 8 kindreds with PNKD due to MR1 mutations to those of 6 kindreds with a similar phenotype, but lacking MR1 mutations. Patients with MR1 mutations had a homogeneous phenotype with earlier onset (3 months to 12 years) of attacks consisting of a mixture of chorea and dystonia in the limbs, face, and trunk usually lasting from 10 to 60 minutes. Premonitory sensations, mainly focal limb sensation, were reported by 41% of mutation carriers. Most (86%) patients reported at least 1 attack per week at some point in their lives. Migraine headaches were present in 47%; no patients had seizures. Attacks were precipitated by caffeine, alcohol, and stress, and there was good response to benzodiazepines. Five (71%) of 7 women reported fewer or no attacks during pregnancy. Patients without MR1 mutations were more variable in age at onset, clinical features, precipitants, and response to medications. Major differences from the mutation-positive group included exercise as a precipitating factor (68%), alcohol not being a precipitating factor, ballism (18%), and seizures (23%). <a href="#1" class="mim-tip-reference" title="Bruno, M. K., Lee, H.-Y., Auburger, G. W. J., Friedman, A., Nielsen, J. E., Lang, A. E., Bertini, E., Van Bogaert, P., Averyanov, Y., Hallett, M., Gwinn-Hardy, K., Sorenson, B., Pandolfo, M., Kwiecinski, H., Servidei, S., Fu, Y.-H., Ptacek, L. <strong>Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia.</strong> Neurology 68: 1782-1789, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17515540/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17515540</a>] [<a href="https://doi.org/10.1212/01.wnl.0000262029.91552.e0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17515540">Bruno et al. (2007)</a> proposed clinical criteria for PNKD based on the data. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17515540" 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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<p><a href="#7" class="mim-tip-reference" title="Fouad, G. T., Servidei, S., Durcan, S., Bertini, E., Ptacek, L. J. <strong>A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2q.</strong> Am. J. Hum. Genet. 59: 135-139, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8659517/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8659517</a>]" pmid="8659517">Fouad et al. (1996)</a> performed linkage studies, using 99 markers uniformly distributed throughout the autosomes, in a large 5-generation Italian family in which 20 members had PDC. Positive lod scores were found with marker D2S102 at 2q31-q36 (maximum lod = 4.64 at theta = 0). Additional markers were used to refine the location of the PDC locus to a 10-cM region between markers D2S128 (proximal) and D2S126 (distal). In a large Polish-American family with PDC, <a href="#6" class="mim-tip-reference" title="Fink, J. K., Rainier, S., Wilkowski, J., Jones, S. M., Kume, A., Hedera, P., Albin, R., Mathay, J., Girbach, L., Varvil, T., Otterud, B., Leppert, M. <strong>Paroxysmal dystonic choreoathetosis: tight linkage to chromosome 2q.</strong> Am. J. Hum. Genet. 59: 140-145, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8659518/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8659518</a>]" pmid="8659518">Fink et al. (1996)</a> found tight linkage between the disease locus and microsatellite markers on distal 2q (2q33-q35); a maximum 2-point lod score of 4.77 at theta = 0 was found with marker D2S173. <a href="#7" class="mim-tip-reference" title="Fouad, G. T., Servidei, S., Durcan, S., Bertini, E., Ptacek, L. J. <strong>A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2q.</strong> Am. J. Hum. Genet. 59: 135-139, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8659517/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8659517</a>]" pmid="8659517">Fouad et al. (1996)</a> and <a href="#6" class="mim-tip-reference" title="Fink, J. K., Rainier, S., Wilkowski, J., Jones, S. M., Kume, A., Hedera, P., Albin, R., Mathay, J., Girbach, L., Varvil, T., Otterud, B., Leppert, M. <strong>Paroxysmal dystonic choreoathetosis: tight linkage to chromosome 2q.</strong> Am. J. Hum. Genet. 59: 140-145, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8659518/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8659518</a>]" pmid="8659518">Fink et al. (1996)</a> noted that other forms of paroxysmal neurologic disorders (e.g., hypo- and hyperkalemic periodic paralysis; <a href="/entry/170400">170400</a> and <a href="/entry/170500">170500</a>, respectively) are due to mutation in ion channel genes and that a cluster of sodium channel genes is located on distal chromosome 2. <a href="#7" class="mim-tip-reference" title="Fouad, G. T., Servidei, S., Durcan, S., Bertini, E., Ptacek, L. J. <strong>A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2q.</strong> Am. J. Hum. Genet. 59: 135-139, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8659517/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8659517</a>]" pmid="8659517">Fouad et al. (1996)</a> suggested AE3 (SLC4A3; <a href="/entry/106195">106195</a>), which maps near the PDC locus, as a candidate gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8659518+8659517" 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="#17" class="mim-tip-reference" title="Raskind, W. H., Bolin, T., Wolff, J., Fink, J., Matsushita, M., Litt, M., Lipe, H., Bird, T. D. <strong>Further localization of a gene for paroxysmal dystonic choreoathetosis to a 5-cM region on chromosome 2q34.</strong> Hum. Genet. 102: 93-97, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9490305/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9490305</a>] [<a href="https://doi.org/10.1007/s004390050659" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9490305">Raskind et al. (1998)</a> reported a family with PDC linked to chromosome 2q31-q36; a maximum 2-point lod score of 4.20 at theta = 0 was obtained for marker D2S120. The authors suggested the anion exchanger SLC4A3 as a candidate gene; however, this family was poorly informative for polymorphic markers within and flanking that gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9490305" 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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<p>The transmission pattern of PNKD1 in the families reported by <a href="#16" class="mim-tip-reference" title="Rainier, S., Thomas, D., Tokarz, D., Ming, L., Bui, M., Plein, E., Zhao, X., Lemons, R., Albin, R., Delaney, C., Alvarado, D., Fink, J. K. <strong>Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis.</strong> Arch. Neurol. 61: 1025-1029, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15262732/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15262732</a>] [<a href="https://doi.org/10.1001/archneur.61.7.1025" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15262732">Rainier et al. (2004)</a> and <a href="#12" class="mim-tip-reference" title="Lee, H.-Y., Xu, Y., Huang, Y., Ahn, A. H., Auburger, G. W. J., Pandolfo, M., Kwiecinski, H., Grimes, D. A., Lang, A. E., Nielsen, J. E., Averyanov, Y., Servidei, S., Friedman, A., Van Bogaert, P., Abramowicz, M. J., Bruno, M. K., Sorensen, B. F., Tang, L., Fu, Y.-H., Ptacek, L. J. <strong>The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway.</strong> Hum. Molec. Genet. 13: 3161-3170, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15496428/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15496428</a>] [<a href="https://doi.org/10.1093/hmg/ddh330" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15496428">Lee et al. (2004)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15262732+15496428" 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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<p>In affected members of 2 unrelated families with PDC, <a href="#16" class="mim-tip-reference" title="Rainier, S., Thomas, D., Tokarz, D., Ming, L., Bui, M., Plein, E., Zhao, X., Lemons, R., Albin, R., Delaney, C., Alvarado, D., Fink, J. K. <strong>Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis.</strong> Arch. Neurol. 61: 1025-1029, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15262732/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15262732</a>] [<a href="https://doi.org/10.1001/archneur.61.7.1025" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15262732">Rainier et al. (2004)</a> identified 2 different heterozygous mutations in the MR1 gene (A9V, <a href="/entry/609023#0001">609023.0001</a>; A7V, <a href="/entry/609023#0002">609023.0002</a>). One of the families had been reported by <a href="#6" class="mim-tip-reference" title="Fink, J. K., Rainier, S., Wilkowski, J., Jones, S. M., Kume, A., Hedera, P., Albin, R., Mathay, J., Girbach, L., Varvil, T., Otterud, B., Leppert, M. <strong>Paroxysmal dystonic choreoathetosis: tight linkage to chromosome 2q.</strong> Am. J. Hum. Genet. 59: 140-145, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8659518/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8659518</a>]" pmid="8659518">Fink et al. (1996)</a>. In that family, 2 unaffected members had the mutation, indicating reduced penetrance. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15262732+8659518" 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="#12" class="mim-tip-reference" title="Lee, H.-Y., Xu, Y., Huang, Y., Ahn, A. H., Auburger, G. W. J., Pandolfo, M., Kwiecinski, H., Grimes, D. A., Lang, A. E., Nielsen, J. E., Averyanov, Y., Servidei, S., Friedman, A., Van Bogaert, P., Abramowicz, M. J., Bruno, M. K., Sorensen, B. F., Tang, L., Fu, Y.-H., Ptacek, L. J. <strong>The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway.</strong> Hum. Molec. Genet. 13: 3161-3170, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15496428/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15496428</a>] [<a href="https://doi.org/10.1093/hmg/ddh330" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15496428">Lee et al. (2004)</a> identified the A9V mutation in affected members of 3 unrelated families with PNKD1 and the A7V mutation in affected members of 5 unrelated families with PNKD1. They noted that MR1 long isoform (MR1L) is likely to have similar enzymatic activity to HAGH (<a href="/entry/138760">138760</a>), which functions in a pathway to detoxify methylglyoxal, a compound present in coffee and alcoholic beverages and produced as a byproduct of oxidative stress. <a href="#12" class="mim-tip-reference" title="Lee, H.-Y., Xu, Y., Huang, Y., Ahn, A. H., Auburger, G. W. J., Pandolfo, M., Kwiecinski, H., Grimes, D. A., Lang, A. E., Nielsen, J. E., Averyanov, Y., Servidei, S., Friedman, A., Van Bogaert, P., Abramowicz, M. J., Bruno, M. K., Sorensen, B. F., Tang, L., Fu, Y.-H., Ptacek, L. J. <strong>The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway.</strong> Hum. Molec. Genet. 13: 3161-3170, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15496428/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15496428</a>] [<a href="https://doi.org/10.1093/hmg/ddh330" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15496428">Lee et al. (2004)</a> suggested a mechanism whereby alcohol, coffee and stress may act as precipitants of attacks in PNKD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15496428" 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>In affected members of 2 unrelated families with PDC, one of which had previously been reported by <a href="#17" class="mim-tip-reference" title="Raskind, W. H., Bolin, T., Wolff, J., Fink, J., Matsushita, M., Litt, M., Lipe, H., Bird, T. D. <strong>Further localization of a gene for paroxysmal dystonic choreoathetosis to a 5-cM region on chromosome 2q34.</strong> Hum. Genet. 102: 93-97, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9490305/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9490305</a>] [<a href="https://doi.org/10.1007/s004390050659" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9490305">Raskind et al. (1998)</a>, <a href="#3" class="mim-tip-reference" title="Chen, D.-H., Matsushita, M., Rainier, S., Meaney, B., Tisch, L., Feleke, A., Wolff, J., Lipe, H., Fink, J., Bird, T. D., Raskind, W. H. <strong>Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia.</strong> Arch. Neurol. 62: 597-600, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15824259/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15824259</a>] [<a href="https://doi.org/10.1001/archneur.62.4.597" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15824259">Chen et al. (2005)</a> found the same MR1 mutations as those identified by <a href="#16" class="mim-tip-reference" title="Rainier, S., Thomas, D., Tokarz, D., Ming, L., Bui, M., Plein, E., Zhao, X., Lemons, R., Albin, R., Delaney, C., Alvarado, D., Fink, J. K. <strong>Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis.</strong> Arch. Neurol. 61: 1025-1029, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15262732/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15262732</a>] [<a href="https://doi.org/10.1001/archneur.61.7.1025" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15262732">Rainier et al. (2004)</a>. Haplotype analysis suggested that the mutations arose independently in all 4 families. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15262732+9490305+15824259" 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="#5" class="mim-tip-reference" title="Djarmati, A., Svetel, M., Momcilovic, D., Kostic, V., Klein, C. <strong>Significance of recurrent mutations in the myofibrillogenesis regulator 1 gene. (Letter)</strong> Arch. Neurol. 62: 1641 only, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16216955/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16216955</a>] [<a href="https://doi.org/10.1001/archneur.62.10.1641-a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16216955">Djarmati et al. (2005)</a> identified the A9V mutation in the MR1 gene (<a href="/entry/609023#0001">609023.0001</a>) in a 15-year-old Serbian boy with PNKD1. The patient belonged to a large family with 12 additional affected members in 5 successive generations. Three obligate mutation carriers were unaffected, suggesting incomplete penetrance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16216955" 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="#8" class="mim-tip-reference" title="Ghezzi, D., Viscomi, C., Ferlini, A., Gualandi, F., Mereghetti, P., DeGrandis, D., Zeviani, M. <strong>Paroxysmal non-kinesigenic dyskinesia is caused by mutation of the MR-1 mitochondrial targeting sequence.</strong> Hum. Molec. Genet. 18: 1058-1064, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19124534/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19124534</a>] [<a href="https://doi.org/10.1093/hmg/ddn441" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19124534">Ghezzi et al. (2009)</a> reported a 3-generation PNKD family in which the proband was heterozygous for a mutation in the N-terminal mitochondrial targeting sequence (MTS) of the MR1 gene (A33P; <a href="/entry/609023#0003">609023.0003</a>). Their results differed from those reported by <a href="#12" class="mim-tip-reference" title="Lee, H.-Y., Xu, Y., Huang, Y., Ahn, A. H., Auburger, G. W. J., Pandolfo, M., Kwiecinski, H., Grimes, D. A., Lang, A. E., Nielsen, J. E., Averyanov, Y., Servidei, S., Friedman, A., Van Bogaert, P., Abramowicz, M. J., Bruno, M. K., Sorensen, B. F., Tang, L., Fu, Y.-H., Ptacek, L. J. <strong>The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway.</strong> Hum. Molec. Genet. 13: 3161-3170, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15496428/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15496428</a>] [<a href="https://doi.org/10.1093/hmg/ddh330" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15496428">Lee et al. (2004)</a> with regard to localization of the MR1 isoforms and suggested a novel disease mechanism based on a deleterious action of the MTS. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15496428+19124534" 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><strong><em>Exclusion Studies</em></strong></p><p>
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By sequence analysis, <a href="#9" class="mim-tip-reference" title="Grunder, S., Geisler, H.-S., Rainer, S., Fink, J. K. <strong>Acid-sensing ion channel (ASIC) 4 gene: physical mapping, genomic organisation, and evaluation as a candidate for paroxysmal dystonia.</strong> Europ. J. Hum. Genet. 9: 672-676, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11571555/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11571555</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200699" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11571555">Grunder et al. (2001)</a> excluded the acid-sensing ion channel 4 gene (ASIC4; <a href="/entry/606715">606715</a>) as causative for PDC. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11571555" 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 href="#Hudgins1966" class="mim-tip-reference" title="Hudgins, R. L., Corbin, K. B. <strong>An uncommon seizure disorder: familial paroxysmal choreoathetosis.</strong> Brain 89: 199-204, 1966.">Hudgins and Corbin (1966)</a>; <a href="#Kato1969" class="mim-tip-reference" title="Kato, M., Araki, S. <strong>Paroxysmal kinesigenic choreoathetosis.</strong> Arch. Neurol. 20: 508-513, 1969.">Kato and Araki (1969)</a>; <a href="#Stevens1966" class="mim-tip-reference" title="Stevens, H. F. <strong>Paroxysmal choreo-athetosis: a form of reflex epilepsy.</strong> Arch. Neurol. 14: 415-420, 1966.">Stevens (1966)</a>; <a href="#Williams1963" class="mim-tip-reference" title="Williams, J., Stevens, H. <strong>Familial paroxysmal choreo-athetosis.</strong> Pediatrics 31: 656-659, 1963.">Williams and Stevens (1963)</a>
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Bruno, M. K., Lee, H.-Y., Auburger, G. W. J., Friedman, A., Nielsen, J. E., Lang, A. E., Bertini, E., Van Bogaert, P., Averyanov, Y., Hallett, M., Gwinn-Hardy, K., Sorenson, B., Pandolfo, M., Kwiecinski, H., Servidei, S., Fu, Y.-H., Ptacek, L.
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<strong>Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia.</strong>
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Neurology 68: 1782-1789, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17515540/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17515540</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17515540" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1001/archneur.62.10.1641-a" target="_blank">Full Text</a>]
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<a id="Wagner1966" class="mim-anchor"></a>
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<p class="mim-text-font">
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Wagner, G. S., McLees, B. D., Hatcher, M. A., Jr.
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<strong>Familial paroxysmal choreo-athetosis. (Abstract)</strong>
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Neurology 16: 307, 1966.
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<a id="Walker1981" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Walker, E. S.
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<strong>Familial paroxysmal dystonic choreoathetosis: a neurologic disorder simulating psychiatric illness.</strong>
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Johns Hopkins Med. J. 148: 108-113, 1981.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7206405/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7206405</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7206405" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="22" class="mim-anchor"></a>
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<a id="Williams1963" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Williams, J., Stevens, H.
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<strong>Familial paroxysmal choreo-athetosis.</strong>
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Pediatrics 31: 656-659, 1963.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14000878/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14000878</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14000878" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Anne M. Stumpf - updated : 02/27/2020
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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George E. Tiller - updated : 10/23/2009<br>Cassandra L. Kniffin - updated : 1/7/2008<br>George E. Tiller - updated : 6/5/2007<br>Cassandra L. Kniffin - updated : 6/9/2006<br>Cassandra L. Kniffin - updated : 8/16/2005<br>Cassandra L. Kniffin - updated : 11/29/2004<br>Michael B. Petersen - updated : 2/25/2002<br>Victor A. McKusick - updated : 5/16/1998<br>Ada Hamosh - updated : 4/30/1998<br>Iosif W. Lurie - updated : 7/3/1996<br>Orest Hurko - updated : 4/1/1996<br>Orest Hurko - updated : 2/5/1996
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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carol : 12/29/2021
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carol : 02/28/2020<br>alopez : 02/27/2020<br>carol : 08/29/2017<br>ckniffin : 08/28/2017<br>carol : 10/06/2015<br>wwang : 11/9/2009<br>terry : 10/23/2009<br>wwang : 1/17/2008<br>ckniffin : 1/7/2008<br>wwang : 7/10/2007<br>ckniffin : 6/28/2007<br>wwang : 6/5/2007<br>wwang : 6/23/2006<br>ckniffin : 6/9/2006<br>carol : 8/31/2005<br>wwang : 8/23/2005<br>ckniffin : 8/16/2005<br>tkritzer : 12/7/2004<br>ckniffin : 11/29/2004<br>carol : 6/23/2004<br>mgross : 3/17/2004<br>alopez : 2/25/2002<br>alopez : 2/25/2002<br>carol : 5/22/1998<br>carol : 5/16/1998<br>carol : 5/16/1998<br>alopez : 5/11/1998<br>alopez : 5/11/1998<br>dholmes : 5/11/1998<br>mark : 2/6/1997<br>carol : 7/3/1996<br>terry : 4/15/1996<br>terry : 4/1/1996<br>terry : 3/22/1996<br>mark : 2/5/1996<br>terry : 1/31/1996<br>mimadm : 6/25/1994<br>warfield : 4/7/1994<br>carol : 10/21/1993<br>supermim : 3/16/1992<br>carol : 2/20/1992<br>carol : 8/24/1990
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<h3>
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<span class="mim-font">
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<strong>#</strong> 118800
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</span>
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</h3>
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<div>
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<h3>
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<span class="mim-font">
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PAROXYSMAL NONKINESIGENIC DYSKINESIA 1; PNKD1
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</h3>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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PAROXYSMAL DYSTONIC CHOREOATHETOSIS; PDC<br />
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CHOREOATHETOSIS, FAMILIAL PAROXYSMAL; FPD1<br />
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MOUNT-REBACK SYNDROME<br />
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CHOREOATHETOSIS, NONKINESIGENIC<br />
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DYSTONIA 8; DYT8
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<strong>ORPHA:</strong> 98810;
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<strong>DO:</strong> 0090049;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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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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<span class="mim-font">
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2q35
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<span class="mim-font">
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Paroxysmal nonkinesigenic dyskinesia 1
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<td>
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<span class="mim-font">
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118800
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<span class="mim-font">
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Autosomal dominant
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<td>
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<span class="mim-font">
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3
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<span class="mim-font">
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PNKD
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<span class="mim-font">
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609023
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<span class="mim-font">
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that paroxysmal nonkinesigenic dyskinesia-1 (PNKD1) is caused by heterozygous mutation in the MR1 gene (PNKD; 609023) on chromosome 2q35.</p>
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<span class="mim-font">
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<strong>Description</strong>
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<span class="mim-text-font">
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<p>Paroxysmal nonkinesigenic dyskinesia-1 (PNKD1) is an autosomal dominant movement disorder characterized by attacks of dystonia, chorea, and athetosis. Attacks may be precipitated by stress, fatigue, caffeine, alcohol, ovulation, or menstruation, and may last minutes to hours (summary by Chen et al., 2005, Ghezzi et al., 2009). </p><p><strong><em>Genetic Heterogeneity of Paroxysmal Nonkinesigenic Dyskinesia</em></strong></p><p>
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See also PNKD2 (611147), mapped to chromosome 2q31, and PNKD3 (609446), caused by mutation in the KCNMA1 gene (600150) on chromosome 10q22.</p>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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<span class="mim-text-font">
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<p>Mount and Reback (1940) described a family with many members in 5 generations affected by paroxysmal choreoathetosis which was thought to be separate from Huntington chorea. The attacks lasted only a few minutes, occurred a few times a day, and were not accompanied by unconsciousness. Alcohol, coffee, hunger, fatigue, and tobacco were precipitating factors. Affected persons were said to be scattered throughout the southern U.S. from South Carolina to Oklahoma. Wagner et al. (1966) observed affected persons in 3 generations. Richards and Barnett (1968) suggested that it be called paroxysmal dystonic choreoathetosis to distinguish it from the more frequently reported movement-induced (kinetogenic) familial (or nonfamilial) paroxysmal choreoathetosis with which it is often confused. They also suggested use of the eponym Mount-Reback for the dystonic form. Muller and Kupke (1990) referred to this disorder as paroxysmal dystonic choreoathetosis. See familial paroxysmal dystonia (128200). </p><p>Walker (1981) provided follow-up on the Mount-Reback kindred. He observed a son and daughter of their proband. The movement disorder could be recognized in the first week of life. The attacks were usually preceded by an aura. The Canadian family reported by Richards and Barnett (1968) was the only one Walker (1981) considered identical to that of Mount and Reback. Walker (1981) raised the possibility that these 2 kindreds are related because of similar origin in the British Isles and commonality of some family names. </p><p>Byrne et al. (1991) presented a family with paroxysmal dystonic choreoathetosis transmitted as a dominant trait through 5 generations. The family was unusual in that several of the affected members showed interruption of the episodes by short periods of sleep. Also, age of onset was highly variable and some of the affected persons showed prominent myokymia. The overlapping features suggested a relationship between this disorder and familial paroxysmal ataxia with myokymia (160120). </p><p>Demirkiran and Jankovic (1995) studied 46 patients with paroxysmal dyskinesias. They introduced a new classification: kinesigenic, induced by movement; nonkinesigenic, exertion-induced; and hypnogenic, induced by sleep. Of their 46 patients, only 2 had a positive family history, 1 with kinesigenic, the other with hypnogenic dyskinesia. In the 23 other patients in which an etiology could be identified, this included psychogenic, cerebrovascular, multiple sclerosis, encephalitis, cerebral trauma, peripheral trauma, migraine, and kernicterus. Patients with kinesigenic dyskinesias responded more frequently to anticonvulsant medication than those with nonkinesigenic dyskinesias. </p><p>Fink et al. (1996) reported a large Polish-American family with PDC. Symptom onset occurred by age 2 years and persisted throughout life. Paroxysmal dyskinesia began as a sense of muscle tightening, typically in an extremity, followed by dystonic posturing and choreoathetoid movements of that extremity. Involuntary movements also affected the face, jaw, and tongue, resulting in dysarthria or dysphagia. The duration of spells ranged from less than 30 minutes to greater than several hours, and occurred up to several times a week, at rest, both spontaneously and following caffeine and alcohol consumption. Clonazepam and diazepam were moderately effective in preventing attacks or lessening their severity. Neurologic examinations between episodes were normal, and there was no disturbance of consciousness during episodes. </p><p>Muller et al. (1998) pointed out the close similarity between this disorder, which the authors referred to as dystonia-8, and that referred to elsewhere as episodic choreoathetosis/spasticity (CSE; 601042). Muller et al. (1998) referred to CSE, which maps to 1p, as dystonia-9. CSE has episodic ataxia as an additional feature, but the involuntary movements and dystonia are similar to those of PDC. In both disorders, episodes can be induced by alcohol, fatigue, and emotional stress; however, in CSE, physical exercise can also precipitate episodes, and some patients with CSE have spastic paraplegia both during and between episodes of dyskinesia. </p><p>Bruno et al. (2007) compared the clinical features of 8 kindreds with PNKD due to MR1 mutations to those of 6 kindreds with a similar phenotype, but lacking MR1 mutations. Patients with MR1 mutations had a homogeneous phenotype with earlier onset (3 months to 12 years) of attacks consisting of a mixture of chorea and dystonia in the limbs, face, and trunk usually lasting from 10 to 60 minutes. Premonitory sensations, mainly focal limb sensation, were reported by 41% of mutation carriers. Most (86%) patients reported at least 1 attack per week at some point in their lives. Migraine headaches were present in 47%; no patients had seizures. Attacks were precipitated by caffeine, alcohol, and stress, and there was good response to benzodiazepines. Five (71%) of 7 women reported fewer or no attacks during pregnancy. Patients without MR1 mutations were more variable in age at onset, clinical features, precipitants, and response to medications. Major differences from the mutation-positive group included exercise as a precipitating factor (68%), alcohol not being a precipitating factor, ballism (18%), and seizures (23%). Bruno et al. (2007) proposed clinical criteria for PNKD based on the data. </p>
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</span>
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<div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Fouad et al. (1996) performed linkage studies, using 99 markers uniformly distributed throughout the autosomes, in a large 5-generation Italian family in which 20 members had PDC. Positive lod scores were found with marker D2S102 at 2q31-q36 (maximum lod = 4.64 at theta = 0). Additional markers were used to refine the location of the PDC locus to a 10-cM region between markers D2S128 (proximal) and D2S126 (distal). In a large Polish-American family with PDC, Fink et al. (1996) found tight linkage between the disease locus and microsatellite markers on distal 2q (2q33-q35); a maximum 2-point lod score of 4.77 at theta = 0 was found with marker D2S173. Fouad et al. (1996) and Fink et al. (1996) noted that other forms of paroxysmal neurologic disorders (e.g., hypo- and hyperkalemic periodic paralysis; 170400 and 170500, respectively) are due to mutation in ion channel genes and that a cluster of sodium channel genes is located on distal chromosome 2. Fouad et al. (1996) suggested AE3 (SLC4A3; 106195), which maps near the PDC locus, as a candidate gene. </p><p>Raskind et al. (1998) reported a family with PDC linked to chromosome 2q31-q36; a maximum 2-point lod score of 4.20 at theta = 0 was obtained for marker D2S120. The authors suggested the anion exchanger SLC4A3 as a candidate gene; however, this family was poorly informative for polymorphic markers within and flanking that gene. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The transmission pattern of PNKD1 in the families reported by Rainier et al. (2004) and Lee et al. (2004) was consistent with autosomal dominant inheritance. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In affected members of 2 unrelated families with PDC, Rainier et al. (2004) identified 2 different heterozygous mutations in the MR1 gene (A9V, 609023.0001; A7V, 609023.0002). One of the families had been reported by Fink et al. (1996). In that family, 2 unaffected members had the mutation, indicating reduced penetrance. </p><p>Lee et al. (2004) identified the A9V mutation in affected members of 3 unrelated families with PNKD1 and the A7V mutation in affected members of 5 unrelated families with PNKD1. They noted that MR1 long isoform (MR1L) is likely to have similar enzymatic activity to HAGH (138760), which functions in a pathway to detoxify methylglyoxal, a compound present in coffee and alcoholic beverages and produced as a byproduct of oxidative stress. Lee et al. (2004) suggested a mechanism whereby alcohol, coffee and stress may act as precipitants of attacks in PNKD. </p><p>In affected members of 2 unrelated families with PDC, one of which had previously been reported by Raskind et al. (1998), Chen et al. (2005) found the same MR1 mutations as those identified by Rainier et al. (2004). Haplotype analysis suggested that the mutations arose independently in all 4 families. </p><p>Djarmati et al. (2005) identified the A9V mutation in the MR1 gene (609023.0001) in a 15-year-old Serbian boy with PNKD1. The patient belonged to a large family with 12 additional affected members in 5 successive generations. Three obligate mutation carriers were unaffected, suggesting incomplete penetrance. </p><p>Ghezzi et al. (2009) reported a 3-generation PNKD family in which the proband was heterozygous for a mutation in the N-terminal mitochondrial targeting sequence (MTS) of the MR1 gene (A33P; 609023.0003). Their results differed from those reported by Lee et al. (2004) with regard to localization of the MR1 isoforms and suggested a novel disease mechanism based on a deleterious action of the MTS. </p><p><strong><em>Exclusion Studies</em></strong></p><p>
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By sequence analysis, Grunder et al. (2001) excluded the acid-sensing ion channel 4 gene (ASIC4; 606715) as causative for PDC. </p>
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<strong>See Also:</strong>
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</h4>
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<span class="mim-text-font">
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Hudgins and Corbin (1966); Kato and Araki (1969); Stevens (1966);
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Williams and Stevens (1963)
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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Williams, J., Stevens, H.
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<strong>Familial paroxysmal choreo-athetosis.</strong>
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Pediatrics 31: 656-659, 1963.
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[PubMed: 14000878]
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Contributors:
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Anne M. Stumpf - updated : 02/27/2020<br>George E. Tiller - updated : 10/23/2009<br>Cassandra L. Kniffin - updated : 1/7/2008<br>George E. Tiller - updated : 6/5/2007<br>Cassandra L. Kniffin - updated : 6/9/2006<br>Cassandra L. Kniffin - updated : 8/16/2005<br>Cassandra L. Kniffin - updated : 11/29/2004<br>Michael B. Petersen - updated : 2/25/2002<br>Victor A. McKusick - updated : 5/16/1998<br>Ada Hamosh - updated : 4/30/1998<br>Iosif W. Lurie - updated : 7/3/1996<br>Orest Hurko - updated : 4/1/1996<br>Orest Hurko - updated : 2/5/1996
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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carol : 12/29/2021<br>carol : 02/28/2020<br>alopez : 02/27/2020<br>carol : 08/29/2017<br>ckniffin : 08/28/2017<br>carol : 10/06/2015<br>wwang : 11/9/2009<br>terry : 10/23/2009<br>wwang : 1/17/2008<br>ckniffin : 1/7/2008<br>wwang : 7/10/2007<br>ckniffin : 6/28/2007<br>wwang : 6/5/2007<br>wwang : 6/23/2006<br>ckniffin : 6/9/2006<br>carol : 8/31/2005<br>wwang : 8/23/2005<br>ckniffin : 8/16/2005<br>tkritzer : 12/7/2004<br>ckniffin : 11/29/2004<br>carol : 6/23/2004<br>mgross : 3/17/2004<br>alopez : 2/25/2002<br>alopez : 2/25/2002<br>carol : 5/22/1998<br>carol : 5/16/1998<br>carol : 5/16/1998<br>alopez : 5/11/1998<br>alopez : 5/11/1998<br>dholmes : 5/11/1998<br>mark : 2/6/1997<br>carol : 7/3/1996<br>terry : 4/15/1996<br>terry : 4/1/1996<br>terry : 3/22/1996<br>mark : 2/5/1996<br>terry : 1/31/1996<br>mimadm : 6/25/1994<br>warfield : 4/7/1994<br>carol : 10/21/1993<br>supermim : 3/16/1992<br>carol : 2/20/1992<br>carol : 8/24/1990
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