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Entry
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- #128235 - DYSTONIA 12; DYT12
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- OMIM
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<p>
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<span class="h4">#128235</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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<li role="presentation">
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<a href="/clinicalSynopsis/128235"><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="#diagnosis">Diagnosis</a>
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<a href="#clinicalManagement">Clinical Management</a>
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<a href="#mapping">Mapping</a>
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<a href="#inheritance">Inheritance</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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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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</div>
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</a>
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</h4>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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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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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=DYSTONIA" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=11017&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/NBK1115/" 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/2409" 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://medlineplus.gov/genetics/condition/rapid-onset-dystonia-parkinsonism" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=128235[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=71517" 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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</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:0090056" 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/128235" 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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<div><a href="https://wormbase.org/resources/disease/DOID:0090056" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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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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<div>
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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>SNOMEDCT:</strong> 702323008<br />
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<strong>ORPHA:</strong> 71517<br />
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<strong>DO:</strong> 0090056<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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128235
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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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DYSTONIA 12; DYT12
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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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DYSTONIA-PARKINSONISM, RAPID-ONSET; RDP
|
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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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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
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<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/19/745?start=-3&limit=10&highlight=745">
|
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19q13.2
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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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Dystonia-12
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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/128235"> 128235 </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>
|
|
</td>
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<td>
|
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<span class="mim-font">
|
|
ATP1A3
|
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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/182350"> 182350 </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 ">
|
|
<a href="/clinicalSynopsis/128235" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
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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')">
|
|
<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">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/128235" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/128235" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
|
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<p />
|
|
</div>
|
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|
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<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">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
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|
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<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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|
|
|
</span>
|
|
</div>
|
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|
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</div>
|
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</div>
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|
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|
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Face </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Facial dystonia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851915&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851915</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012179" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012179</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012179" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012179</a>]</span><br /> -
|
|
Hypomimic face <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248149005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248149005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0813217&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0813217</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000338" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000338</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000338" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000338</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Neck </em>
|
|
</span>
|
|
</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 />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
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|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Dystonia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/15802004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">15802004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G24.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G24.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/G24" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G24</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013421&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013421</a>, <a href="https://bioportal.bioontology.org/search?q=C0393593&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0393593</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001332" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001332</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001332" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001332</a>]</span><br /> -
|
|
Bulbar and upper limb symptoms more severe than lower limb symptoms <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851906&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851906</a>]</span><br /> -
|
|
Parkinsonism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32798002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32798002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G20.C" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G20.C</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0242422&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0242422</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001300" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001300</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001300" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001300</a>]</span><br /> -
|
|
Rapid initial onset of symptoms (hours to weeks) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851907&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851907</a>]</span><br /> -
|
|
Bradykinesia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399317006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399317006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0233565&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0233565</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002067" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002067</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002067" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002067</a>]</span><br /> -
|
|
Slow gait <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851908&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851908</a>]</span><br /> -
|
|
Unsteady gait <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22631008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22631008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0231686&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0231686</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002317" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002317</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002317" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002317</a>]</span><br /> -
|
|
Postural instability <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843921&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843921</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002172" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002172</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002172" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002172</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 /> -
|
|
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 /> -
|
|
Drooling <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/62718007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">62718007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013132&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013132</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002307" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002307</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0003781" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003781</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002307" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002307</a>]</span><br /> -
|
|
Mutism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/88052002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">88052002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026884&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026884</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002300" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002300</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002300" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002300</a>]</span><br /> -
|
|
Onset may be triggered by emotional stress, fever, exercise, exposure to heat <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851909&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851909</a>]</span><br /> -
|
|
Symptoms stabilize within 4 weeks <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851910&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851910</a>]</span><br /> -
|
|
Most patients remain stable or improve in years after the abrupt onset of symptoms <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851911&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851911</a>]</span><br /> -
|
|
Transient mild dystonia may precede abrupt onset of disorder by several years <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851912&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851912</a>]</span><br /> -
|
|
Normal brain MRI or CT scan <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851913&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851913</a>]</span><br /> -
|
|
Cerebrospinal fluid may show decreased levels of homovanillic acid (HVA) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851914&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851914</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> Behavioral Psychiatric Manifestations </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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- Depression <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/78667006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">78667006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/35489007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">35489007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/366979004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">366979004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/255339005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">255339005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F34.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F34.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F32.A" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F32.A</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F33.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F33.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0812393&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0812393</a>, <a href="https://bioportal.bioontology.org/search?q=C0011581&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011581</a>, <a href="https://bioportal.bioontology.org/search?q=C0460137&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0460137</a>, <a href="https://bioportal.bioontology.org/search?q=C1579931&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1579931</a>, <a href="https://bioportal.bioontology.org/search?q=C0344315&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0344315</a>, <a href="https://bioportal.bioontology.org/search?q=C4085311&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4085311</a>, <a href="https://bioportal.bioontology.org/search?q=C0011570&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011570</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000716" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000716</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000716" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000716</a>]</span><br /> -
|
|
Emotional lability <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/18963009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">18963009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R45.86" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R45.86</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/799.24" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">799.24</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0085633&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085633</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000712" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000712</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000712" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000712</a>]</span><br /> -
|
|
Anxiety <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48694002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48694002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/197480006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">197480006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F41.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F41.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F41.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F41.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003469&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003469</a>, <a href="https://bioportal.bioontology.org/search?q=C0003467&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003467</a>, <a href="https://bioportal.bioontology.org/search?q=C0860603&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0860603</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000739" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000739</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000739" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000739</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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<div>
|
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<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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|
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<div>
|
|
<span class="mim-font">
|
|
|
|
- Onset usually in late adolescence or early adulthood (range 15 to 45 years)<br /> -
|
|
Childhood onset rarely occurs<br /> -
|
|
Treatment with levodopa is not effective<br /> -
|
|
Reduced penetrance <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836598&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836598</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003829</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003829</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>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
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|
|
- Caused by mutations in the alpha-3 subunit of the Na+/K+-ATPase gene (ATP1A3, <a href="/entry/182350#0001">182350.0001</a>)<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 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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|
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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small">
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|
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<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Dystonia
|
|
- <a href="/phenotypicSeries/PS128100">PS128100</a>
|
|
- 37 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
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|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
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<a href="/geneMap/1/65?start=-3&limit=10&highlight=65"> 1p36.32-p36.13 </a>
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|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607671"> Dystonia 13, torsion </a>
|
|
</span>
|
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</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">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607671"> 607671 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607671"> DYT13 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607671"> 607671 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/373?start=-3&limit=10&highlight=373"> 1p35.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617282"> Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities </a>
|
|
</span>
|
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</td>
|
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<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>
|
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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>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617282"> 617282 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608205"> MECR </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608205"> 608205 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/409?start=-3&limit=10&highlight=409"> 1p35.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/224500"> Dystonia 2, torsion, autosomal recessive </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/224500"> 224500 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/142622"> HPCA </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/142622"> 142622 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/513?start=-3&limit=10&highlight=513"> 1p34.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612126"> GLUT1 deficiency syndrome 2, childhood onset </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612126"> 612126 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138140"> SLC2A1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138140"> 138140 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/513?start=-3&limit=10&highlight=513"> 1p34.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601042"> Dystonia 9 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601042"> 601042 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138140"> SLC2A1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138140"> 138140 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/185?start=-3&limit=10&highlight=185"> 2p22.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619687"> Dystonia 33 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619687"> 619687 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/176871"> EIF2AK2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/176871"> 176871 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/614?start=-3&limit=10&highlight=614"> 2q14.3-q21.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614588"> Dystonia 21 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614588"> 614588 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614588"> DYT21 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614588"> 614588 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/751?start=-3&limit=10&highlight=751"> 2q31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611147"> Paroxysmal nonkinesigenic dyskinesia 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611147"> 611147 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611147"> PNKD2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611147"> 611147 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/819?start=-3&limit=10&highlight=819"> 2q31.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612067"> Dystonia 16 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612067"> 612067 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603424"> PRKRA </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603424"> 603424 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/1003?start=-3&limit=10&highlight=1003"> 2q35 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/118800"> Paroxysmal nonkinesigenic dyskinesia 1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/118800"> 118800 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609023"> PNKD </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609023"> 609023 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/1149?start=-3&limit=10&highlight=1149"> 2q37.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616411"> Dystonia 27 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616411"> 616411 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120250"> COL6A3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120250"> 120250 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/461?start=-3&limit=10&highlight=461"> 3p13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619921"> ?Dystonia 35, childhood-onset </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619921"> 619921 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613663"> SHQ1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613663"> 613663 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/339?start=-3&limit=10&highlight=339"> 4q21.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620427"> Dystonia 37, early-onset, with striatal lesions </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620427"> 620427 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607607"> NUP54 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607607"> 607607 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/376?start=-3&limit=10&highlight=376"> 5q22.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619724"> ?Dystonia 34, myoclonic </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619724"> 619724 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605879"> KCNN2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605879"> 605879 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/425?start=-3&limit=10&highlight=425"> 7q21.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/159900"> Dystonia-11, myoclonic </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/159900"> 159900 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604149"> SGCE </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604149"> 604149 </a>
|
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</span>
|
|
</td>
|
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</tr>
|
|
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|
<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>
|
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</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/326?start=-3&limit=10&highlight=326"> 9q22.32 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619565"> Dystonia 31 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619565"> 619565 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619600"> AOPEP </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619600"> 619600 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/514?start=-3&limit=10&highlight=514"> 9q34 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614860"> Dystonia 23 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614860"> 614860 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614860"> DYT23 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614860"> 614860 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/571?start=-3&limit=10&highlight=571"> 9q34.11 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/128100"> Dystonia-1, torsion </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/128100"> 128100 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605204"> TOR1A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605204"> 605204 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/249?start=-3&limit=10&highlight=249"> 11p14.3-p14.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615034"> Dystonia 24 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615034"> 615034 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610110"> ANO3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610110"> 610110 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/629?start=-3&limit=10&highlight=629"> 11q13.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620245"> Episodic kinesigenic dyskinesia 3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620245"> 620245 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620108"> TMEM151A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620108"> 620108 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/1003?start=-3&limit=10&highlight=1003"> 11q23.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619637"> ?Dystonia 32 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619637"> 619637 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608549"> VPS11 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608549"> 608549 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/252?start=-3&limit=10&highlight=252"> 14q22.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/128230"> Dystonia, DOPA-responsive </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/128230"> 128230 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600225"> GCH1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600225"> 600225 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/330?start=-3&limit=10&highlight=330"> 16p11.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/128200"> Episodic kinesigenic dyskinesia 1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/128200"> 128200 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614386"> PRRT2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614386"> 614386 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/449?start=-3&limit=10&highlight=449"> 16q13-q22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611031"> Episodic kinesigenic dyskinesia 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611031"> 611031 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611031"> EKD2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611031"> 611031 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/784?start=-3&limit=10&highlight=784"> 17q22 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620456"> ?Dystonia 22, adult-onset </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620456"> 620456 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610764"> TSPOAP1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610764"> 610764 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/784?start=-3&limit=10&highlight=784"> 17q22 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620453"> Dystonia 22, juvenile-onset </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620453"> 620453 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610764"> TSPOAP1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610764"> 610764 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/18/4?start=-3&limit=10&highlight=4"> 18p11 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607488"> Dystonia-15, myoclonic </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607488"> 607488 </a>
|
|
</span>
|
|
</td>
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<span class="mim-font">
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<a href="/entry/607488"> DYT15 </a>
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</span>
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<span class="mim-font">
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<a href="/entry/607488"> 607488 </a>
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</span>
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<span class="mim-font">
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<a href="/geneMap/18/5?start=-3&limit=10&highlight=5"> 18p </a>
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<span class="mim-font">
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<a href="/entry/602124"> Dystonia-7, torsion </a>
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</span>
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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 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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<span class="mim-font">
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<a href="/entry/602124"> 602124 </a>
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<span class="mim-font">
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<a href="/entry/602124"> DYT7 </a>
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<span class="mim-font">
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<a href="/entry/602124"> 602124 </a>
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<span class="mim-font">
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<a href="/geneMap/18/57?start=-3&limit=10&highlight=57"> 18p11.21 </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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<a href="/entry/615073"> Dystonia 25 </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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</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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<td>
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<span class="mim-font">
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<a href="/entry/615073"> 615073 </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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<a href="/entry/139312"> GNAL </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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<a href="/entry/139312"> 139312 </a>
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</span>
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</td>
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<tr>
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<span class="mim-font">
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<a href="/geneMap/19/185?start=-3&limit=10&highlight=185"> 19p13.3 </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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<a href="/entry/128101"> Dystonia 4, torsion, autosomal dominant </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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<span class="mim-font">
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<a href="/entry/128101"> 128101 </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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<a href="/entry/602662"> TUBB4A </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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<a href="/entry/602662"> 602662 </a>
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</span>
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</td>
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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/19/595?start=-3&limit=10&highlight=595"> 19q13.12 </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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<a href="/entry/617284"> Dystonia 28, childhood-onset </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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<a href="/entry/617284"> 617284 </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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<a href="/entry/606834"> KMT2B </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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<a href="/entry/606834"> 606834 </a>
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</span>
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</td>
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</tr>
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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/19/745?start=-3&limit=10&highlight=745"> 19q13.2 </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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<a href="/entry/128235"> Dystonia-12 </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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<a href="/entry/128235"> 128235 </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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<a href="/entry/182350"> ATP1A3 </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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<a href="/entry/182350"> 182350 </a>
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</span>
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</td>
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</tr>
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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/20/40?start=-3&limit=10&highlight=40"> 20p13 </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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<a href="/entry/619291"> Dystonia 30 </a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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|
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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>
|
|
</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/619291"> 619291 </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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<a href="/entry/608550"> VPS16 </a>
|
|
</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/608550"> 608550 </a>
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</span>
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</td>
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</tr>
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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/20/116?start=-3&limit=10&highlight=116"> 20p11.2-q13.12 </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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<a href="/entry/612406"> Dystonia-17, primary torsion </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 recessive">AR</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="2 - The disorder was placed on the map by statistical methods"> 2 </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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<a href="/entry/612406"> 612406 </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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<a href="/entry/612406"> DYT17 </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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<a href="/entry/612406"> 612406 </a>
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</span>
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</td>
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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/22/234?start=-3&limit=10&highlight=234"> 22q12.3 </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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<a href="/entry/616398"> Dystonia 26, myoclonic </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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<a href="/entry/616398"> 616398 </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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<a href="/entry/616386"> KCTD17 </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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<a href="/entry/616386"> 616386 </a>
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</span>
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</td>
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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/X/410?start=-3&limit=10&highlight=410"> Xq13.1 </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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<a href="/entry/314250"> Dystonia-Parkinsonism, X-linked </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="X-linked recessive">XLR</abbr>
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</span>
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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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<span class="mim-font">
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<a href="/entry/314250"> 314250 </a>
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</span>
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<td>
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<span class="mim-font">
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<a href="/entry/313650"> TAF1 </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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<a href="/entry/313650"> 313650 </a>
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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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<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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<p>A number sign (#) is used with this entry because rapid-onset dystonia-parkinsonism (DYT12) is caused by heterozygous mutation in the gene encoding the alpha-3 subunit of the N,K-ATPase (ATP1A3; <a href="/entry/182350">182350</a>) on chromosome 19q13.</p><p>Heterozygous mutation in the ATP1A3 gene can also cause 2 other neurologic disorders that share some clinical features: alternating hemiplegia of childhood-2 (AHC2; <a href="/entry/614820">614820</a>) and CAPOS syndrome (CAPOS; <a href="/entry/601338">601338</a>).</p>
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<br />
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<a id="description" class="mim-anchor"></a>
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>Description</strong>
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<p>Dystonia-12 (DYT12), also known as rapid-onset dystonia-parkinsonism, is an autosomal dominant disorder characterized by abrupt onset of asymmetric dystonia and parkinsonism in young adulthood, often after a trigger such as physical overexertion, trauma, heat, or fever. Affected individuals also show slowly progressive nonparoxysmal neurologic deterioration in a rostrocaudal gradient with prominent bulbar dysfunction (summary by <a href="#12" class="mim-tip-reference" title="Rosewich, H., Ohlenbusch, A., Huppke, P., Schlotawa, L., Baethmann, M., Carrilho, I., Fiori, S., Lourenco, C. M., Sawyer, S., Steinfeld, R., Gartner, J., Brockmann, K. <strong>The expanding clinical and genetic spectrum of ATP1A3-related disorders.</strong> Neurology 82: 945-955, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24523486/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24523486</a>] [<a href="https://doi.org/10.1212/WNL.0000000000000212" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24523486">Rosewich et al., 2014</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24523486" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Clinical Features</strong>
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<p><a href="#9" class="mim-tip-reference" title="Dobyns, W. B., Ozelius, L. J., Kramer, P. L., Brashear, A., Farlow, M. R., Perry, T. R., Walsh, L. E., Kasarskis, E. J., Butler, I. J., Breakefield, X. O. <strong>Rapid-onset dystonia-parkinsonism.</strong> Neurology 43: 2596-2602, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8255463/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8255463</a>] [<a href="https://doi.org/10.1212/wnl.43.12.2596" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8255463">Dobyns et al. (1993)</a> described a large Indiana family with an apparently 'new' autosomal dominant form of dystonia-parkinsonism characterized by an unusually rapid evolution of signs and symptoms. Affected persons developed dystonia and parkinsonism between 14 and 45 years of age. The onset was acute in 6 individuals with the abrupt onset of symptoms over the course of several hours, and was subacute in 4 others who had evolution over several days or weeks. Thereafter, progression of symptoms was usually very slow. Two had intermittent focal dystonia without parkinsonism, and 1 obligate gene carrier was asymptomatic at age 68 years. Cerebrospinal fluid levels of homovanillic acid were decreased in the 2 individuals tested, but dopaminergic therapy provided only slight benefit. The family contained at least 4 instances of male-to-male transmission of the disorder. Linkage analysis with 3 markers near the gene for idiopathic torsion dystonia (DYT1; <a href="/entry/128100">128100</a>) showed several obligate recombinations, thus excluding that gene as the site of the mutation in this disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8255463" 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="#7" class="mim-tip-reference" title="Brashear, A., Farlow, M. R., Butler, I. J., Kasarskis, E. J., Dobyns, W. B. <strong>Variable phenotype of rapid-onset dystonia-parkinsonism.</strong> Mov. Disord. 11: 151-156, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8684384/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8684384</a>] [<a href="https://doi.org/10.1002/mds.870110206" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8684384">Brashear et al. (1996)</a> analyzed the variable phenotype. Onset occurred during childhood, adolescence, or adulthood. In contrast to dopamine-responsive dystonia, treatment with L-DOPA was not very effective. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8684384" 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="Brashear, A., DeLeon, D., Bressman, S. B., Thyagarajan, D., Farlow, M. R., Dobyns, W. B. <strong>Rapid-onset dystonia-parkinsonism in a second family.</strong> Neurology 48: 1066-1069, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9109901/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9109901</a>] [<a href="https://doi.org/10.1212/wnl.48.4.1066" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9109901">Brashear et al. (1997)</a> reported a family with 4 affected members. One woman reported onset of mild cramping in the left arm and hand and mild limping at age 18 years. While walking on a warm day at age 23, she suddenly felt tremulous, hot, and confused, and developed severe dystonic spasms in the left leg. Over the next 2 days, she had unsteady gait and worsening of dystonia. Neurologic examination at that time showed dysarthria, dysphagia, bradykinesia, and dystonic posturing. Over the following 12 years, she showed slight improvement in dysarthria, with no change in dysphagia, dystonic spasms, and bradykinesia. She used a walker and wheelchair. The other affected family members had a similar clinical history. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9109901" 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="Brashear, A., Butler, I. J., Ozelius, L. J., Kramer, P. L., Farlow, M. R., Breakefield, X. O., Dobyns, W. B. <strong>Rapid-onset dystonia-parkinsonism: a report of clinical, biochemical, and genetic studies in two families.</strong> Adv. Neurol. 78: 335-339, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9750930/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9750930</a>]" pmid="9750930">Brashear et al. (1998)</a> detected low levels of homovanillic acid (HVA) in the CSF of affected patients and asymptomatic gene carriers, suggesting a defect in the CNS dopaminergic system. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9750930" 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="#11" class="mim-tip-reference" title="Pittock, S. J., Joyce, C., O'Keane, V., Hugle, B., Hardiman, O., Brett, F., Green, A. J., Barton, D. E., King, M. D., Webb, D. W. <strong>Rapid-onset dystonia-parkinsonism: a clinical and genetic analysis of a new kindred.</strong> Neurology 55: 991-995, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11061257/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11061257</a>] [<a href="https://doi.org/10.1212/wnl.55.7.991" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11061257">Pittock et al. (2000)</a> reported a family in which 8 members were affected with RDP in an autosomal dominant pattern of inheritance. Five members developed sudden-onset (several hours to days) dystonia with postural instability, and 4 of the 5 had associated severe bulbar symptoms such as dysarthria, drooling, and orofacial dystonia. Some patients showed hypertonicity and hyperreflexia. Two patients had onset associated with a stressor and 1 individual had intermittent hemidystonia with dysarthria coming on abruptly in times of stress or anxiety. Psychiatric morbidity in the family was common, including severe depression, social anxiety, schizoid personality disorder, and mild mental retardation. In most patients, the progression was stable. Autopsy of 1 patient showed no evidence of nerve cell loss, gliosis, or Lewy body formation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11061257" 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="Zaremba, J., Mierzewska, H., Lysiak, Z., Kramer, P., Ozelius, L. J., Brashear, A. <strong>Rapid-onset dystonia-parkinsonism: a fourth family consistent with linkage to chromosome 19q13.</strong> Mov. Disord. 19: 1506-1510, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15390049/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15390049</a>] [<a href="https://doi.org/10.1002/mds.20258" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15390049">Zaremba et al. (2004)</a> reported a family from southern Poland in which 4 sibs had DYT12. Age at onset ranged from 16 to 28 years, with all affected persons developing sudden and rapid onset of their symptoms. The main clinical features included dystonia of the face, arms, and legs, parkinsonism, and dysarthria. The proband reported abrupt onset at age 17 years of dysarthria, mutism, and drooling, followed by dysphagia and dystonic spasms in the lower face with marked distortion of the lower jaw and involuntary dystonic movements in the right upper limb. Several weeks before, she had some transient speech disturbances lasting several hours. Psychiatric consult diagnosed 'hysteric conversion.' She later experienced intermittent periods of worsening and improvement but remained independent. Physical examination at age 35 years showed parkinsonism with broad-based gait, bradykinesia, hypomimic face, and dystonia of the neck and right arm. She was emotionally labile and depressed. A sister reported transient oculogyric crisis and mutism lasting for 1 year beginning after mild head trauma. She showed improvement after the delivery of her only child, but walking disturbances persisted. A third sib had acute onset at age 28 years of dystonia, severe dysarthria, hypomimic face, and walking difficulties, with only slight improvement over 5 years. Two years earlier, she had experienced an episode of retrocollis that resolved completely within 12 hours. The fourth sib had the mildest course, with sudden onset of cramping in the left wrist and abnormal posturing of the left foot, and dysarthria. In all patients, the course was stationary with a tendency toward improvement over many years. Neither parent was affected, suggesting incomplete penetrance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15390049" 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="Brashear, A., Dobyns, W. B., de Carvalho Aguiar, P., Borg, M., Frijns, C. J. M., Gollamudi, S., Green, A., Guimaraes, J., Haake, B. C., Klein, C., Linazasoro, G., Munchau, A., Raymond, D., Riley, D., Saunders-Pullman, R., Tijssen, M. A. J., Webb, D., Zaremba, J., Bressman, S. B., Ozelius, L. J. <strong>The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene.</strong> Brain 130: 828-835, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17282997/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17282997</a>] [<a href="https://doi.org/10.1093/brain/awl340" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17282997">Brashear et al. (2007)</a> reviewed the clinical features of 36 individuals from 10 families with DYT12 confirmed by genetic analysis. Seven of the families had previously been reported by <a href="#8" class="mim-tip-reference" title="de Carvalho Aguiar, P., Sweadner, K. J., Penniston, J. T., Zaremba, J., Liu, L., Caton, M., Linazasoro, G., Borg, M., Tijssen, M. A. J., Bressman, S. B., Dobyns, W. B., Brashear, A., Ozelius, L. J. <strong>Mutations in the Na(+)/K(+)-ATPase alpha-3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism.</strong> Neuron 43: 169-175, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15260953/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15260953</a>] [<a href="https://doi.org/10.1016/j.neuron.2004.06.028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15260953">de Carvalho Aguiar et al. (2004)</a>. The disorder was characterized by abrupt onset of bulbar and limb dystonia with features of parkinsonism. The onset was sometimes preceded by vague antecedent symptoms, such as dystonia or cramping of the hands or distal leg. The age at onset ranged from 8 to 55 years and was always abrupt, usually following a physical or psychologic trigger. Bulbar symptoms were striking, with dysarthria, hypophonia, and dysphagia appearing in a rostrocaudal gradient. Involuntary parkinsonian movements included bradykinesia and postural instability, but usually not tremor. Nonmotor features, such as depression and social phobia, were present in some individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17282997+15260953" 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="Anselm, I. A., Sweadner, K. J., Gollamudi, S., Ozelius, L. J., Darras, B. T. <strong>Rapid-onset dystonia-parkinsonism in a child with a novel ATP1A3 gene mutation.</strong> Neurology 73: 400-401, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19652145/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19652145</a>] [<a href="https://doi.org/10.1212/WNL.0b013e3181b04acd" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19652145">Anselm et al. (2009)</a> reported a boy, born of a Caucasian father and Chinese mother, who had early-onset of severe DYT12 confirmed by genetic analysis (D923N; <a href="/entry/182350#0007">182350.0007</a>). Hypotonia and in-toeing of the left foot were noted at age 3 years. On the day of onset at age 4, he sustained mild head trauma followed by sudden onset of mutism, eye convergence, and inability to walk. Over several hours, he developed prominent hypotonia that later evolved into severe dystonia. Mutism evolved into severe dysarthria and drooling. His condition stabilized over several months, and he showed mild improvement over the next 8 years. Early brain PET scan showed hypermetabolism in the striatum involving the caudate nuclei and putamen bilaterally, whereas later scans showed mildly decreased metabolic activity in both thalami and the left putamen. About a year after onset, he developed unusual episodes of flaccidity lasting for hours, later replaced by shorter episodes of stiffness. Treatment with L-DOPA was not effective. At the time of the report, he had bulbar symptoms, striking oromotor dystonia with inability to speak or swallow well, and apraxia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19652145" 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="#14" class="mim-tip-reference" title="Tarsy, D., Sweadner, K. J., Song, P. C. <strong>Case 17-2010: a 29-year-old woman with flexion of the left hand and foot and difficulty speaking.</strong> New Eng. J. Med. 362: 2213-2219, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20558373/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20558373</a>] [<a href="https://doi.org/10.1056/NEJMcpc1002112" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20558373">Tarsy et al. (2010)</a> reported a 29-year-old woman of African Caribbean descent with DYT12. She had onset at age 26 years of weakness and flexion of the left hand and ankle, which progressed rapidly over the next few years to become frank dystonia of the left arm and bulbar symptoms, including dysphagia, laryngeal dysfunction with task-specific dysphonia, and oropharyngeal dysmotility. She also had mild parkinsonism, with hypomimia and wide-based gait. Treatment with oral trihexyphenidyl and botulinum injection into selected laryngeal muscles resulted in clinical improvement. Molecular testing identified a heterozygous mutation in the ATP1A3 gene (E277K; <a href="/entry/182350#0003">182350.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20558373" 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="Balestrini, S., Mikati, M. A., Alvarez-Garcia-Roves, R., Carboni, M. Hunanyan, A. S., Kherallah, B., McLean, M., Prange, L., De Grandis, E., Gagliardi, A., Pisciotta, L., Stagnaro, M., and 42 others. <strong>Cardiac phenotype in ATP1A3-related syndromes: a multicenter study.</strong> Neurology 95: e2866-e2879, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32913013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32913013</a>] [<a href="https://doi.org/10.1212/WNL.0000000000010794" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32913013">Balestrini et al. (2020)</a> evaluated the cardiac phenotype in 110 patients with ATP1A3-related disorders, including 98 with AHC2, 9 with DYT12, and 3 with CAPOS; 22 of the AHC2 patients were previously reported, whereas all of the DYT12 and CAPOS patients were newly reported. Seizures were reported in 58 patients, status epilepticus in 21, and autonomic dysfunction in 60. Syncope, which was the only reported symptom related to cardiac function, was seen in 3 patients. Resting electrocardiogram abnormalities were seen in 6 of the 9 patients with DYT12. Repolarization abnormalities were seen in Holter monitoring in 1 of 2 patients with DYT12 tested. There was no difference in prevalence of 12-lead ECG abnormalities between patients with AHC2, DYT12, or CAPOS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32913013" 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>Clinical Variability</em></strong></p><p>
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<a href="#13" class="mim-tip-reference" title="Sweadner, K. J., Toro, C., Whitlow, C. T., Snively, B. M., Cook, J. F., Ozelius, L. J., Markello, T. C., Brashear, A. <strong>ATP1A3 mutation in adult rapid-onset ataxia.</strong> PLoS One 11: e0151429, 2016. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26990090/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26990090</a>] [<a href="https://doi.org/10.1371/journal.pone.0151429" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26990090">Sweadner et al. (2016)</a> reported a 26-year-old man with an unusual DYT12 phenotype. He presented at age 19 years with rapidly progressive ataxia, dysarthria, and tremor, resulting in the loss of independent ambulation, but with minimal dystonia. Brain imaging showed progressive and severe cerebellar atrophy. Exome sequencing identified a de novo heterozygous missense mutation in the ATP1A3 gene (G316S; <a href="/entry/182350#0018">182350.0018</a>), and in vitro functional studies showed that the mutation resulted in a cellular growth defect. Exome sequencing showed that the patient also carried a de novo heterozygous missense E482K variant in the UBQLN4 gene (<a href="/entry/605440">605440</a>), which may have played a role in the prominent cerebellar ataxia and cerebellar atrophy observed in this patient; functional studies of the UBQLN4 variant were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26990090" 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="#5" class="mim-tip-reference" title="Brashear, A., DeLeon, D., Bressman, S. B., Thyagarajan, D., Farlow, M. R., Dobyns, W. B. <strong>Rapid-onset dystonia-parkinsonism in a second family.</strong> Neurology 48: 1066-1069, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9109901/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9109901</a>] [<a href="https://doi.org/10.1212/wnl.48.4.1066" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9109901">Brashear et al. (1997)</a> developed diagnostic criteria for rapid-onset dystonia-parkinsonism. The disorder shows autosomal dominant inheritance, sudden onset of combined dystonia and parkinsonism with stabilization in less than 4 weeks, bulbar symptoms such as dysarthria and dysphagia, bulbar and arm involvement often more severe than leg involvement, moderate or no response to dopamine agonists, and normal brain MRI. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9109901" 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="Brashear, A., Dobyns, W. B., de Carvalho Aguiar, P., Borg, M., Frijns, C. J. M., Gollamudi, S., Green, A., Guimaraes, J., Haake, B. C., Klein, C., Linazasoro, G., Munchau, A., Raymond, D., Riley, D., Saunders-Pullman, R., Tijssen, M. A. J., Webb, D., Zaremba, J., Bressman, S. B., Ozelius, L. J. <strong>The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene.</strong> Brain 130: 828-835, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17282997/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17282997</a>] [<a href="https://doi.org/10.1093/brain/awl340" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17282997">Brashear et al. (2007)</a> reported updated diagnostic criteria for DYT12. The minimal criteria should include abrupt onset of dystonia with parkinsonism over a few minutes to 30 days, a clear rostrocaudal (face, arm, leg) gradient of involvement, and prominent bulbar findings. Suggestive features include lack of tremor, occasional mild dystonia before abrupt onset, triggers associated with onset, rare abrupt secondary worsening later in life, and stabilization of symptoms within a month of onset. There seems to be minimal improvement overall, but some have limited improvement in gait. Importantly, a family history of the disorder is not required for diagnosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17282997" 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="#2" class="mim-tip-reference" title="Balestrini, S., Mikati, M. A., Alvarez-Garcia-Roves, R., Carboni, M. Hunanyan, A. S., Kherallah, B., McLean, M., Prange, L., De Grandis, E., Gagliardi, A., Pisciotta, L., Stagnaro, M., and 42 others. <strong>Cardiac phenotype in ATP1A3-related syndromes: a multicenter study.</strong> Neurology 95: e2866-e2879, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32913013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32913013</a>] [<a href="https://doi.org/10.1212/WNL.0000000000010794" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32913013">Balestrini et al. (2020)</a> recommended that all individuals with the ATP1A3-related disorders DYT12, AHC2, and CAPOS undergo a baseline ECG, cardiac ultrasound, and Holter monitoring. They further recommended annual 12-lead ECGs for all patients, and additional studies (e.g., Holter monitoring) as needed based on patient symptoms. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32913013" 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="#10" class="mim-tip-reference" title="Kramer, P. L., Mineta, M., Klein, C., Schilling, K., de Leon, D., Farlow, M. R., Breakefield, X. O., Bressman, S. B., Dobyns, W. B., Ozelius, L. J., Brashear, A. <strong>Rapid-onset dystonia-parkinsonism: linkage to chromosome 19q13.</strong> Ann. Neurol. 46: 176-182, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10443882/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10443882</a>] [<a href="https://doi.org/10.1002/1531-8249(199908)46:2<176::aid-ana6>3.0.co;2-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10443882">Kramer et al. (1999)</a> studied 81 members of 2 midwestern U.S. families with rapid-onset dystonia-parkinsonism, 16 of whom exhibited classic features. <a href="#10" class="mim-tip-reference" title="Kramer, P. L., Mineta, M., Klein, C., Schilling, K., de Leon, D., Farlow, M. R., Breakefield, X. O., Bressman, S. B., Dobyns, W. B., Ozelius, L. J., Brashear, A. <strong>Rapid-onset dystonia-parkinsonism: linkage to chromosome 19q13.</strong> Ann. Neurol. 46: 176-182, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10443882/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10443882</a>] [<a href="https://doi.org/10.1002/1531-8249(199908)46:2<176::aid-ana6>3.0.co;2-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10443882">Kramer et al. (1999)</a> found significant evidence for linkage in these 2 families to markers on chromosome 19q13, with the highest multipoint lod score of 5.77 at D19S198 (theta = 0.0). The flanking markers D19S587 and D19S900 defined a candidate region of approximately 8 cM. Genetic analysis of the affected family reported by <a href="#11" class="mim-tip-reference" title="Pittock, S. J., Joyce, C., O'Keane, V., Hugle, B., Hardiman, O., Brett, F., Green, A. J., Barton, D. E., King, M. D., Webb, D. W. <strong>Rapid-onset dystonia-parkinsonism: a clinical and genetic analysis of a new kindred.</strong> Neurology 55: 991-995, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11061257/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11061257</a>] [<a href="https://doi.org/10.1212/wnl.55.7.991" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11061257">Pittock et al. (2000)</a> suggested linkage to the RDP locus on chromosome 19q13 (lod score = 2.1). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11061257+10443882" 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="Zaremba, J., Mierzewska, H., Lysiak, Z., Kramer, P., Ozelius, L. J., Brashear, A. <strong>Rapid-onset dystonia-parkinsonism: a fourth family consistent with linkage to chromosome 19q13.</strong> Mov. Disord. 19: 1506-1510, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15390049/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15390049</a>] [<a href="https://doi.org/10.1002/mds.20258" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15390049">Zaremba et al. (2004)</a> found linkage to chromosome 19 in a family from southern Poland with RDP. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15390049" 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 dystonia-12 in the family reported by <a href="#9" class="mim-tip-reference" title="Dobyns, W. B., Ozelius, L. J., Kramer, P. L., Brashear, A., Farlow, M. R., Perry, T. R., Walsh, L. E., Kasarskis, E. J., Butler, I. J., Breakefield, X. O. <strong>Rapid-onset dystonia-parkinsonism.</strong> Neurology 43: 2596-2602, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8255463/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8255463</a>] [<a href="https://doi.org/10.1212/wnl.43.12.2596" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8255463">Dobyns et al. (1993)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8255463" 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 7 unrelated families with rapid-onset dystonia parkinsonism, <a href="#8" class="mim-tip-reference" title="de Carvalho Aguiar, P., Sweadner, K. J., Penniston, J. T., Zaremba, J., Liu, L., Caton, M., Linazasoro, G., Borg, M., Tijssen, M. A. J., Bressman, S. B., Dobyns, W. B., Brashear, A., Ozelius, L. J. <strong>Mutations in the Na(+)/K(+)-ATPase alpha-3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism.</strong> Neuron 43: 169-175, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15260953/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15260953</a>] [<a href="https://doi.org/10.1016/j.neuron.2004.06.028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15260953">de Carvalho Aguiar et al. (2004)</a> identified 6 different heterozygous mutations in the ATP1A3 gene (<a href="/entry/182350#0001">182350.0001</a>-<a href="/entry/182350#0006">182350.0006</a>). Three of the families had previously been reported by <a href="#9" class="mim-tip-reference" title="Dobyns, W. B., Ozelius, L. J., Kramer, P. L., Brashear, A., Farlow, M. R., Perry, T. R., Walsh, L. E., Kasarskis, E. J., Butler, I. J., Breakefield, X. O. <strong>Rapid-onset dystonia-parkinsonism.</strong> Neurology 43: 2596-2602, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8255463/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8255463</a>] [<a href="https://doi.org/10.1212/wnl.43.12.2596" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8255463">Dobyns et al. (1993)</a>, <a href="#5" class="mim-tip-reference" title="Brashear, A., DeLeon, D., Bressman, S. B., Thyagarajan, D., Farlow, M. R., Dobyns, W. B. <strong>Rapid-onset dystonia-parkinsonism in a second family.</strong> Neurology 48: 1066-1069, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9109901/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9109901</a>] [<a href="https://doi.org/10.1212/wnl.48.4.1066" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9109901">Brashear et al. (1997)</a>, and <a href="#15" class="mim-tip-reference" title="Zaremba, J., Mierzewska, H., Lysiak, Z., Kramer, P., Ozelius, L. J., Brashear, A. <strong>Rapid-onset dystonia-parkinsonism: a fourth family consistent with linkage to chromosome 19q13.</strong> Mov. Disord. 19: 1506-1510, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15390049/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15390049</a>] [<a href="https://doi.org/10.1002/mds.20258" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15390049">Zaremba et al. (2004)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15260953+15390049+9109901+8255463" 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="Brashear, A., Dobyns, W. B., de Carvalho Aguiar, P., Borg, M., Frijns, C. J. M., Gollamudi, S., Green, A., Guimaraes, J., Haake, B. C., Klein, C., Linazasoro, G., Munchau, A., Raymond, D., Riley, D., Saunders-Pullman, R., Tijssen, M. A. J., Webb, D., Zaremba, J., Bressman, S. B., Ozelius, L. J. <strong>The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene.</strong> Brain 130: 828-835, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17282997/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17282997</a>] [<a href="https://doi.org/10.1093/brain/awl340" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17282997">Brashear et al. (2007)</a> identified mutations in the ATP1A3 gene in 3 (21%) of 14 probands referred for testing, including the T613M mutation (<a href="/entry/182350#0001">182350.0001</a>) in affected members of the family reported by <a href="#11" class="mim-tip-reference" title="Pittock, S. J., Joyce, C., O'Keane, V., Hugle, B., Hardiman, O., Brett, F., Green, A. J., Barton, D. E., King, M. D., Webb, D. W. <strong>Rapid-onset dystonia-parkinsonism: a clinical and genetic analysis of a new kindred.</strong> Neurology 55: 991-995, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11061257/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11061257</a>] [<a href="https://doi.org/10.1212/wnl.55.7.991" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11061257">Pittock et al. (2000)</a>. One of the patients had a de novo mutation, and another was believed to have a de novo mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17282997+11061257" 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="#3" class="mim-tip-reference" title="Blanco-Arias, P., Einholm, A. P., Mamsa, H., Concheiro, C., Gutierrez-de-Teran, H., Romero, J., Toustrup-Jensen, M. S., Carracedo, A., Jen, J. C., Vilsen, B., Sobrido, M.-J. <strong>A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism.</strong> Hum. Molec. Genet. 18: 2370-2377, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19351654/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19351654</a>] [<a href="https://doi.org/10.1093/hmg/ddp170" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19351654">Blanco-Arias et al. (2009)</a> reported a de novo 3-bp insertion in the ATP1A3 gene (<a href="/entry/182350#0008">182350.0008</a>) in a 16-year-old female patient with sudden-onset dystonia-12. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19351654" 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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Anselm, I. A., Sweadner, K. J., Gollamudi, S., Ozelius, L. J., Darras, B. T.
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<strong>Rapid-onset dystonia-parkinsonism in a child with a novel ATP1A3 gene mutation.</strong>
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Neurology 73: 400-401, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19652145/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19652145</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19652145" 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/10.1212/WNL.0b013e3181b04acd" target="_blank">Full Text</a>]
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Balestrini, S., Mikati, M. A., Alvarez-Garcia-Roves, R., Carboni, M. Hunanyan, A. S., Kherallah, B., McLean, M., Prange, L., De Grandis, E., Gagliardi, A., Pisciotta, L., Stagnaro, M., and 42 others.
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<strong>Cardiac phenotype in ATP1A3-related syndromes: a multicenter study.</strong>
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Neurology 95: e2866-e2879, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32913013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32913013</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32913013" 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/10.1212/WNL.0000000000010794" target="_blank">Full Text</a>]
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Blanco-Arias, P., Einholm, A. P., Mamsa, H., Concheiro, C., Gutierrez-de-Teran, H., Romero, J., Toustrup-Jensen, M. S., Carracedo, A., Jen, J. C., Vilsen, B., Sobrido, M.-J.
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<strong>A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism.</strong>
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Hum. Molec. Genet. 18: 2370-2377, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19351654/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19351654</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19351654" 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/10.1093/hmg/ddp170" target="_blank">Full Text</a>]
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Brashear, A., Butler, I. J., Ozelius, L. J., Kramer, P. L., Farlow, M. R., Breakefield, X. O., Dobyns, W. B.
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<strong>Rapid-onset dystonia-parkinsonism: a report of clinical, biochemical, and genetic studies in two families.</strong>
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Adv. Neurol. 78: 335-339, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9750930/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9750930</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9750930" 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="Brashear1997" class="mim-anchor"></a>
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Brashear, A., DeLeon, D., Bressman, S. B., Thyagarajan, D., Farlow, M. R., Dobyns, W. B.
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<strong>Rapid-onset dystonia-parkinsonism in a second family.</strong>
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Neurology 48: 1066-1069, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9109901/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9109901</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9109901" 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/10.1212/wnl.48.4.1066" target="_blank">Full Text</a>]
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<a id="Brashear2007" class="mim-anchor"></a>
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Brashear, A., Dobyns, W. B., de Carvalho Aguiar, P., Borg, M., Frijns, C. J. M., Gollamudi, S., Green, A., Guimaraes, J., Haake, B. C., Klein, C., Linazasoro, G., Munchau, A., Raymond, D., Riley, D., Saunders-Pullman, R., Tijssen, M. A. J., Webb, D., Zaremba, J., Bressman, S. B., Ozelius, L. J.
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<strong>The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene.</strong>
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Brain 130: 828-835, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17282997/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17282997</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17282997" 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/10.1093/brain/awl340" target="_blank">Full Text</a>]
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<a id="Brashear1996" class="mim-anchor"></a>
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Brashear, A., Farlow, M. R., Butler, I. J., Kasarskis, E. J., Dobyns, W. B.
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<strong>Variable phenotype of rapid-onset dystonia-parkinsonism.</strong>
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Mov. Disord. 11: 151-156, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8684384/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8684384</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8684384" 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/10.1002/mds.870110206" target="_blank">Full Text</a>]
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<a id="de Carvalho Aguiar2004" class="mim-anchor"></a>
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de Carvalho Aguiar, P., Sweadner, K. J., Penniston, J. T., Zaremba, J., Liu, L., Caton, M., Linazasoro, G., Borg, M., Tijssen, M. A. J., Bressman, S. B., Dobyns, W. B., Brashear, A., Ozelius, L. J.
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<strong>Mutations in the Na(+)/K(+)-ATPase alpha-3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism.</strong>
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Neuron 43: 169-175, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15260953/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15260953</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15260953" 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/10.1016/j.neuron.2004.06.028" target="_blank">Full Text</a>]
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<a id="Dobyns1993" class="mim-anchor"></a>
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Dobyns, W. B., Ozelius, L. J., Kramer, P. L., Brashear, A., Farlow, M. R., Perry, T. R., Walsh, L. E., Kasarskis, E. J., Butler, I. J., Breakefield, X. O.
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<strong>Rapid-onset dystonia-parkinsonism.</strong>
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Neurology 43: 2596-2602, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8255463/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8255463</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8255463" 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/10.1212/wnl.43.12.2596" target="_blank">Full Text</a>]
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Kramer, P. L., Mineta, M., Klein, C., Schilling, K., de Leon, D., Farlow, M. R., Breakefield, X. O., Bressman, S. B., Dobyns, W. B., Ozelius, L. J., Brashear, A.
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<strong>Rapid-onset dystonia-parkinsonism: linkage to chromosome 19q13.</strong>
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Ann. Neurol. 46: 176-182, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10443882/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10443882</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10443882" 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/10.1002/1531-8249(199908)46:2<176::aid-ana6>3.0.co;2-2" target="_blank">Full Text</a>]
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<a id="Pittock2000" class="mim-anchor"></a>
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Pittock, S. J., Joyce, C., O'Keane, V., Hugle, B., Hardiman, O., Brett, F., Green, A. J., Barton, D. E., King, M. D., Webb, D. W.
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<strong>Rapid-onset dystonia-parkinsonism: a clinical and genetic analysis of a new kindred.</strong>
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Neurology 55: 991-995, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11061257/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11061257</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11061257" 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/10.1212/wnl.55.7.991" target="_blank">Full Text</a>]
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<a id="Rosewich2014" class="mim-anchor"></a>
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Rosewich, H., Ohlenbusch, A., Huppke, P., Schlotawa, L., Baethmann, M., Carrilho, I., Fiori, S., Lourenco, C. M., Sawyer, S., Steinfeld, R., Gartner, J., Brockmann, K.
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<strong>The expanding clinical and genetic spectrum of ATP1A3-related disorders.</strong>
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Neurology 82: 945-955, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24523486/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24523486</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24523486" 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/10.1212/WNL.0000000000000212" target="_blank">Full Text</a>]
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<a id="Sweadner2016" class="mim-anchor"></a>
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Sweadner, K. J., Toro, C., Whitlow, C. T., Snively, B. M., Cook, J. F., Ozelius, L. J., Markello, T. C., Brashear, A.
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<strong>ATP1A3 mutation in adult rapid-onset ataxia.</strong>
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PLoS One 11: e0151429, 2016. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26990090/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26990090</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26990090" 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/10.1371/journal.pone.0151429" target="_blank">Full Text</a>]
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Tarsy, D., Sweadner, K. J., Song, P. C.
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<strong>Case 17-2010: a 29-year-old woman with flexion of the left hand and foot and difficulty speaking.</strong>
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New Eng. J. Med. 362: 2213-2219, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20558373/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20558373</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20558373" 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/10.1056/NEJMcpc1002112" target="_blank">Full Text</a>]
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Zaremba, J., Mierzewska, H., Lysiak, Z., Kramer, P., Ozelius, L. J., Brashear, A.
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<strong>Rapid-onset dystonia-parkinsonism: a fourth family consistent with linkage to chromosome 19q13.</strong>
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Mov. Disord. 19: 1506-1510, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15390049/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15390049</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15390049" 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/10.1002/mds.20258" target="_blank">Full Text</a>]
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Hilary J. Vernon - updated : 02/01/2021
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Cassandra L. Kniffin - updated : 4/13/2016<br>Cassandra L. Kniffin - updated : 9/29/2014<br>Cassandra L. Kniffin - updated : 6/10/2010<br>George E. Tiller - updated : 3/30/2010<br>Cassandra L. Kniffin - updated : 12/17/2009<br>Cassandra L. Kniffin - updated : 3/21/2005<br>Cassandra L. Kniffin - updated : 3/10/2005<br>Cassandra L. Kniffin - updated : 9/30/2003<br>Ada Hamosh - updated : 10/24/2000<br>Victor A. McKusick - updated : 5/6/1998
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Creation Date:
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Victor A. McKusick : 5/11/1992
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carol : 12/15/2022
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carol : 01/07/2022<br>carol : 02/02/2021<br>carol : 02/01/2021<br>carol : 04/14/2016<br>ckniffin : 4/13/2016<br>alopez : 9/29/2014<br>ckniffin : 9/29/2014<br>mcolton : 2/21/2014<br>wwang : 6/11/2010<br>ckniffin : 6/10/2010<br>wwang : 3/31/2010<br>terry : 3/30/2010<br>wwang : 1/8/2010<br>ckniffin : 12/17/2009<br>ckniffin : 4/5/2005<br>ckniffin : 3/21/2005<br>wwang : 3/16/2005<br>wwang : 3/10/2005<br>ckniffin : 3/10/2005<br>ckniffin : 3/10/2005<br>carol : 10/2/2003<br>ckniffin : 9/30/2003<br>alopez : 10/25/2000<br>terry : 10/24/2000<br>carol : 10/2/2000<br>carol : 9/29/1999<br>carol : 5/13/1998<br>terry : 5/6/1998<br>carol : 4/1/1994<br>carol : 10/26/1993<br>carol : 10/18/1993<br>carol : 10/4/1993<br>carol : 9/30/1993<br>carol : 9/16/1993
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<strong>#</strong> 128235
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DYSTONIA 12; DYT12
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DYSTONIA-PARKINSONISM, RAPID-ONSET; RDP
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<strong>SNOMEDCT:</strong> 702323008;
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<strong>ORPHA:</strong> 71517;
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<strong>DO:</strong> 0090056;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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19q13.2
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<span class="mim-font">
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Dystonia-12
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<span class="mim-font">
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128235
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Autosomal dominant
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3
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ATP1A3
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182350
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because rapid-onset dystonia-parkinsonism (DYT12) is caused by heterozygous mutation in the gene encoding the alpha-3 subunit of the N,K-ATPase (ATP1A3; 182350) on chromosome 19q13.</p><p>Heterozygous mutation in the ATP1A3 gene can also cause 2 other neurologic disorders that share some clinical features: alternating hemiplegia of childhood-2 (AHC2; 614820) and CAPOS syndrome (CAPOS; 601338).</p>
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<strong>Description</strong>
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<p>Dystonia-12 (DYT12), also known as rapid-onset dystonia-parkinsonism, is an autosomal dominant disorder characterized by abrupt onset of asymmetric dystonia and parkinsonism in young adulthood, often after a trigger such as physical overexertion, trauma, heat, or fever. Affected individuals also show slowly progressive nonparoxysmal neurologic deterioration in a rostrocaudal gradient with prominent bulbar dysfunction (summary by Rosewich et al., 2014). </p>
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<strong>Clinical Features</strong>
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<p>Dobyns et al. (1993) described a large Indiana family with an apparently 'new' autosomal dominant form of dystonia-parkinsonism characterized by an unusually rapid evolution of signs and symptoms. Affected persons developed dystonia and parkinsonism between 14 and 45 years of age. The onset was acute in 6 individuals with the abrupt onset of symptoms over the course of several hours, and was subacute in 4 others who had evolution over several days or weeks. Thereafter, progression of symptoms was usually very slow. Two had intermittent focal dystonia without parkinsonism, and 1 obligate gene carrier was asymptomatic at age 68 years. Cerebrospinal fluid levels of homovanillic acid were decreased in the 2 individuals tested, but dopaminergic therapy provided only slight benefit. The family contained at least 4 instances of male-to-male transmission of the disorder. Linkage analysis with 3 markers near the gene for idiopathic torsion dystonia (DYT1; 128100) showed several obligate recombinations, thus excluding that gene as the site of the mutation in this disorder. </p><p>Brashear et al. (1996) analyzed the variable phenotype. Onset occurred during childhood, adolescence, or adulthood. In contrast to dopamine-responsive dystonia, treatment with L-DOPA was not very effective. </p><p>Brashear et al. (1997) reported a family with 4 affected members. One woman reported onset of mild cramping in the left arm and hand and mild limping at age 18 years. While walking on a warm day at age 23, she suddenly felt tremulous, hot, and confused, and developed severe dystonic spasms in the left leg. Over the next 2 days, she had unsteady gait and worsening of dystonia. Neurologic examination at that time showed dysarthria, dysphagia, bradykinesia, and dystonic posturing. Over the following 12 years, she showed slight improvement in dysarthria, with no change in dysphagia, dystonic spasms, and bradykinesia. She used a walker and wheelchair. The other affected family members had a similar clinical history. </p><p>Brashear et al. (1998) detected low levels of homovanillic acid (HVA) in the CSF of affected patients and asymptomatic gene carriers, suggesting a defect in the CNS dopaminergic system. </p><p>Pittock et al. (2000) reported a family in which 8 members were affected with RDP in an autosomal dominant pattern of inheritance. Five members developed sudden-onset (several hours to days) dystonia with postural instability, and 4 of the 5 had associated severe bulbar symptoms such as dysarthria, drooling, and orofacial dystonia. Some patients showed hypertonicity and hyperreflexia. Two patients had onset associated with a stressor and 1 individual had intermittent hemidystonia with dysarthria coming on abruptly in times of stress or anxiety. Psychiatric morbidity in the family was common, including severe depression, social anxiety, schizoid personality disorder, and mild mental retardation. In most patients, the progression was stable. Autopsy of 1 patient showed no evidence of nerve cell loss, gliosis, or Lewy body formation. </p><p>Zaremba et al. (2004) reported a family from southern Poland in which 4 sibs had DYT12. Age at onset ranged from 16 to 28 years, with all affected persons developing sudden and rapid onset of their symptoms. The main clinical features included dystonia of the face, arms, and legs, parkinsonism, and dysarthria. The proband reported abrupt onset at age 17 years of dysarthria, mutism, and drooling, followed by dysphagia and dystonic spasms in the lower face with marked distortion of the lower jaw and involuntary dystonic movements in the right upper limb. Several weeks before, she had some transient speech disturbances lasting several hours. Psychiatric consult diagnosed 'hysteric conversion.' She later experienced intermittent periods of worsening and improvement but remained independent. Physical examination at age 35 years showed parkinsonism with broad-based gait, bradykinesia, hypomimic face, and dystonia of the neck and right arm. She was emotionally labile and depressed. A sister reported transient oculogyric crisis and mutism lasting for 1 year beginning after mild head trauma. She showed improvement after the delivery of her only child, but walking disturbances persisted. A third sib had acute onset at age 28 years of dystonia, severe dysarthria, hypomimic face, and walking difficulties, with only slight improvement over 5 years. Two years earlier, she had experienced an episode of retrocollis that resolved completely within 12 hours. The fourth sib had the mildest course, with sudden onset of cramping in the left wrist and abnormal posturing of the left foot, and dysarthria. In all patients, the course was stationary with a tendency toward improvement over many years. Neither parent was affected, suggesting incomplete penetrance. </p><p>Brashear et al. (2007) reviewed the clinical features of 36 individuals from 10 families with DYT12 confirmed by genetic analysis. Seven of the families had previously been reported by de Carvalho Aguiar et al. (2004). The disorder was characterized by abrupt onset of bulbar and limb dystonia with features of parkinsonism. The onset was sometimes preceded by vague antecedent symptoms, such as dystonia or cramping of the hands or distal leg. The age at onset ranged from 8 to 55 years and was always abrupt, usually following a physical or psychologic trigger. Bulbar symptoms were striking, with dysarthria, hypophonia, and dysphagia appearing in a rostrocaudal gradient. Involuntary parkinsonian movements included bradykinesia and postural instability, but usually not tremor. Nonmotor features, such as depression and social phobia, were present in some individuals. </p><p>Anselm et al. (2009) reported a boy, born of a Caucasian father and Chinese mother, who had early-onset of severe DYT12 confirmed by genetic analysis (D923N; 182350.0007). Hypotonia and in-toeing of the left foot were noted at age 3 years. On the day of onset at age 4, he sustained mild head trauma followed by sudden onset of mutism, eye convergence, and inability to walk. Over several hours, he developed prominent hypotonia that later evolved into severe dystonia. Mutism evolved into severe dysarthria and drooling. His condition stabilized over several months, and he showed mild improvement over the next 8 years. Early brain PET scan showed hypermetabolism in the striatum involving the caudate nuclei and putamen bilaterally, whereas later scans showed mildly decreased metabolic activity in both thalami and the left putamen. About a year after onset, he developed unusual episodes of flaccidity lasting for hours, later replaced by shorter episodes of stiffness. Treatment with L-DOPA was not effective. At the time of the report, he had bulbar symptoms, striking oromotor dystonia with inability to speak or swallow well, and apraxia. </p><p>Tarsy et al. (2010) reported a 29-year-old woman of African Caribbean descent with DYT12. She had onset at age 26 years of weakness and flexion of the left hand and ankle, which progressed rapidly over the next few years to become frank dystonia of the left arm and bulbar symptoms, including dysphagia, laryngeal dysfunction with task-specific dysphonia, and oropharyngeal dysmotility. She also had mild parkinsonism, with hypomimia and wide-based gait. Treatment with oral trihexyphenidyl and botulinum injection into selected laryngeal muscles resulted in clinical improvement. Molecular testing identified a heterozygous mutation in the ATP1A3 gene (E277K; 182350.0003). </p><p>Balestrini et al. (2020) evaluated the cardiac phenotype in 110 patients with ATP1A3-related disorders, including 98 with AHC2, 9 with DYT12, and 3 with CAPOS; 22 of the AHC2 patients were previously reported, whereas all of the DYT12 and CAPOS patients were newly reported. Seizures were reported in 58 patients, status epilepticus in 21, and autonomic dysfunction in 60. Syncope, which was the only reported symptom related to cardiac function, was seen in 3 patients. Resting electrocardiogram abnormalities were seen in 6 of the 9 patients with DYT12. Repolarization abnormalities were seen in Holter monitoring in 1 of 2 patients with DYT12 tested. There was no difference in prevalence of 12-lead ECG abnormalities between patients with AHC2, DYT12, or CAPOS. </p><p><strong><em>Clinical Variability</em></strong></p><p>
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Sweadner et al. (2016) reported a 26-year-old man with an unusual DYT12 phenotype. He presented at age 19 years with rapidly progressive ataxia, dysarthria, and tremor, resulting in the loss of independent ambulation, but with minimal dystonia. Brain imaging showed progressive and severe cerebellar atrophy. Exome sequencing identified a de novo heterozygous missense mutation in the ATP1A3 gene (G316S; 182350.0018), and in vitro functional studies showed that the mutation resulted in a cellular growth defect. Exome sequencing showed that the patient also carried a de novo heterozygous missense E482K variant in the UBQLN4 gene (605440), which may have played a role in the prominent cerebellar ataxia and cerebellar atrophy observed in this patient; functional studies of the UBQLN4 variant were not performed. </p>
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<h4>
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<strong>Diagnosis</strong>
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<p>Brashear et al. (1997) developed diagnostic criteria for rapid-onset dystonia-parkinsonism. The disorder shows autosomal dominant inheritance, sudden onset of combined dystonia and parkinsonism with stabilization in less than 4 weeks, bulbar symptoms such as dysarthria and dysphagia, bulbar and arm involvement often more severe than leg involvement, moderate or no response to dopamine agonists, and normal brain MRI. </p><p>Brashear et al. (2007) reported updated diagnostic criteria for DYT12. The minimal criteria should include abrupt onset of dystonia with parkinsonism over a few minutes to 30 days, a clear rostrocaudal (face, arm, leg) gradient of involvement, and prominent bulbar findings. Suggestive features include lack of tremor, occasional mild dystonia before abrupt onset, triggers associated with onset, rare abrupt secondary worsening later in life, and stabilization of symptoms within a month of onset. There seems to be minimal improvement overall, but some have limited improvement in gait. Importantly, a family history of the disorder is not required for diagnosis. </p>
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<strong>Clinical Management</strong>
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<p>Balestrini et al. (2020) recommended that all individuals with the ATP1A3-related disorders DYT12, AHC2, and CAPOS undergo a baseline ECG, cardiac ultrasound, and Holter monitoring. They further recommended annual 12-lead ECGs for all patients, and additional studies (e.g., Holter monitoring) as needed based on patient symptoms. </p>
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<strong>Mapping</strong>
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<p>Kramer et al. (1999) studied 81 members of 2 midwestern U.S. families with rapid-onset dystonia-parkinsonism, 16 of whom exhibited classic features. Kramer et al. (1999) found significant evidence for linkage in these 2 families to markers on chromosome 19q13, with the highest multipoint lod score of 5.77 at D19S198 (theta = 0.0). The flanking markers D19S587 and D19S900 defined a candidate region of approximately 8 cM. Genetic analysis of the affected family reported by Pittock et al. (2000) suggested linkage to the RDP locus on chromosome 19q13 (lod score = 2.1). </p><p>Zaremba et al. (2004) found linkage to chromosome 19 in a family from southern Poland with RDP. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of dystonia-12 in the family reported by Dobyns et al. (1993) was consistent with autosomal dominant inheritance. </p>
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<strong>Molecular Genetics</strong>
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<p>In affected members of 7 unrelated families with rapid-onset dystonia parkinsonism, de Carvalho Aguiar et al. (2004) identified 6 different heterozygous mutations in the ATP1A3 gene (182350.0001-182350.0006). Three of the families had previously been reported by Dobyns et al. (1993), Brashear et al. (1997), and Zaremba et al. (2004). </p><p>Brashear et al. (2007) identified mutations in the ATP1A3 gene in 3 (21%) of 14 probands referred for testing, including the T613M mutation (182350.0001) in affected members of the family reported by Pittock et al. (2000). One of the patients had a de novo mutation, and another was believed to have a de novo mutation. </p><p>Blanco-Arias et al. (2009) reported a de novo 3-bp insertion in the ATP1A3 gene (182350.0008) in a 16-year-old female patient with sudden-onset dystonia-12. </p>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<p class="mim-text-font">
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Anselm, I. A., Sweadner, K. J., Gollamudi, S., Ozelius, L. J., Darras, B. T.
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<strong>Rapid-onset dystonia-parkinsonism in a child with a novel ATP1A3 gene mutation.</strong>
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Neurology 73: 400-401, 2009.
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[PubMed: 19652145]
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[Full Text: https://doi.org/10.1212/WNL.0b013e3181b04acd]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Balestrini, S., Mikati, M. A., Alvarez-Garcia-Roves, R., Carboni, M. Hunanyan, A. S., Kherallah, B., McLean, M., Prange, L., De Grandis, E., Gagliardi, A., Pisciotta, L., Stagnaro, M., and 42 others.
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<strong>Cardiac phenotype in ATP1A3-related syndromes: a multicenter study.</strong>
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Neurology 95: e2866-e2879, 2020.
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[PubMed: 32913013]
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[Full Text: https://doi.org/10.1212/WNL.0000000000010794]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Blanco-Arias, P., Einholm, A. P., Mamsa, H., Concheiro, C., Gutierrez-de-Teran, H., Romero, J., Toustrup-Jensen, M. S., Carracedo, A., Jen, J. C., Vilsen, B., Sobrido, M.-J.
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<strong>A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism.</strong>
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Hum. Molec. Genet. 18: 2370-2377, 2009.
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[PubMed: 19351654]
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[Full Text: https://doi.org/10.1093/hmg/ddp170]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Brashear, A., Butler, I. J., Ozelius, L. J., Kramer, P. L., Farlow, M. R., Breakefield, X. O., Dobyns, W. B.
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<strong>Rapid-onset dystonia-parkinsonism: a report of clinical, biochemical, and genetic studies in two families.</strong>
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Adv. Neurol. 78: 335-339, 1998.
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[PubMed: 9750930]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Brashear, A., DeLeon, D., Bressman, S. B., Thyagarajan, D., Farlow, M. R., Dobyns, W. B.
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<strong>Rapid-onset dystonia-parkinsonism in a second family.</strong>
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Neurology 48: 1066-1069, 1997.
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[PubMed: 9109901]
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[Full Text: https://doi.org/10.1212/wnl.48.4.1066]
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</li>
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<li>
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<p class="mim-text-font">
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Brashear, A., Dobyns, W. B., de Carvalho Aguiar, P., Borg, M., Frijns, C. J. M., Gollamudi, S., Green, A., Guimaraes, J., Haake, B. C., Klein, C., Linazasoro, G., Munchau, A., Raymond, D., Riley, D., Saunders-Pullman, R., Tijssen, M. A. J., Webb, D., Zaremba, J., Bressman, S. B., Ozelius, L. J.
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<strong>The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene.</strong>
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Brain 130: 828-835, 2007.
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[PubMed: 17282997]
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[Full Text: https://doi.org/10.1093/brain/awl340]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Brashear, A., Farlow, M. R., Butler, I. J., Kasarskis, E. J., Dobyns, W. B.
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<strong>Variable phenotype of rapid-onset dystonia-parkinsonism.</strong>
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Mov. Disord. 11: 151-156, 1996.
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[PubMed: 8684384]
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[Full Text: https://doi.org/10.1002/mds.870110206]
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de Carvalho Aguiar, P., Sweadner, K. J., Penniston, J. T., Zaremba, J., Liu, L., Caton, M., Linazasoro, G., Borg, M., Tijssen, M. A. J., Bressman, S. B., Dobyns, W. B., Brashear, A., Ozelius, L. J.
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<strong>Mutations in the Na(+)/K(+)-ATPase alpha-3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism.</strong>
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Neuron 43: 169-175, 2004.
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[PubMed: 15260953]
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[Full Text: https://doi.org/10.1016/j.neuron.2004.06.028]
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Dobyns, W. B., Ozelius, L. J., Kramer, P. L., Brashear, A., Farlow, M. R., Perry, T. R., Walsh, L. E., Kasarskis, E. J., Butler, I. J., Breakefield, X. O.
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<strong>Rapid-onset dystonia-parkinsonism.</strong>
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Neurology 43: 2596-2602, 1993.
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[PubMed: 8255463]
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[Full Text: https://doi.org/10.1212/wnl.43.12.2596]
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Kramer, P. L., Mineta, M., Klein, C., Schilling, K., de Leon, D., Farlow, M. R., Breakefield, X. O., Bressman, S. B., Dobyns, W. B., Ozelius, L. J., Brashear, A.
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<strong>Rapid-onset dystonia-parkinsonism: linkage to chromosome 19q13.</strong>
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Ann. Neurol. 46: 176-182, 1999.
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[PubMed: 10443882]
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[Full Text: https://doi.org/10.1002/1531-8249(199908)46:2<176::aid-ana6>3.0.co;2-2]
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Pittock, S. J., Joyce, C., O'Keane, V., Hugle, B., Hardiman, O., Brett, F., Green, A. J., Barton, D. E., King, M. D., Webb, D. W.
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<strong>Rapid-onset dystonia-parkinsonism: a clinical and genetic analysis of a new kindred.</strong>
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Neurology 55: 991-995, 2000.
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[PubMed: 11061257]
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[Full Text: https://doi.org/10.1212/wnl.55.7.991]
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Rosewich, H., Ohlenbusch, A., Huppke, P., Schlotawa, L., Baethmann, M., Carrilho, I., Fiori, S., Lourenco, C. M., Sawyer, S., Steinfeld, R., Gartner, J., Brockmann, K.
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<strong>The expanding clinical and genetic spectrum of ATP1A3-related disorders.</strong>
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Neurology 82: 945-955, 2014.
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[PubMed: 24523486]
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[Full Text: https://doi.org/10.1212/WNL.0000000000000212]
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Sweadner, K. J., Toro, C., Whitlow, C. T., Snively, B. M., Cook, J. F., Ozelius, L. J., Markello, T. C., Brashear, A.
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<strong>ATP1A3 mutation in adult rapid-onset ataxia.</strong>
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PLoS One 11: e0151429, 2016. Note: Electronic Article.
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[PubMed: 26990090]
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[Full Text: https://doi.org/10.1371/journal.pone.0151429]
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Tarsy, D., Sweadner, K. J., Song, P. C.
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<strong>Case 17-2010: a 29-year-old woman with flexion of the left hand and foot and difficulty speaking.</strong>
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New Eng. J. Med. 362: 2213-2219, 2010.
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[PubMed: 20558373]
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[Full Text: https://doi.org/10.1056/NEJMcpc1002112]
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Zaremba, J., Mierzewska, H., Lysiak, Z., Kramer, P., Ozelius, L. J., Brashear, A.
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<strong>Rapid-onset dystonia-parkinsonism: a fourth family consistent with linkage to chromosome 19q13.</strong>
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Mov. Disord. 19: 1506-1510, 2004.
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[PubMed: 15390049]
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[Full Text: https://doi.org/10.1002/mds.20258]
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Hilary J. Vernon - updated : 02/01/2021<br>Cassandra L. Kniffin - updated : 4/13/2016<br>Cassandra L. Kniffin - updated : 9/29/2014<br>Cassandra L. Kniffin - updated : 6/10/2010<br>George E. Tiller - updated : 3/30/2010<br>Cassandra L. Kniffin - updated : 12/17/2009<br>Cassandra L. Kniffin - updated : 3/21/2005<br>Cassandra L. Kniffin - updated : 3/10/2005<br>Cassandra L. Kniffin - updated : 9/30/2003<br>Ada Hamosh - updated : 10/24/2000<br>Victor A. McKusick - updated : 5/6/1998
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