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Entry
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- #128100 - DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT; DYT1
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- OMIM
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<p>
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<span class="h4">#128100</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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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/128100"><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="#otherFeatures">Other Features</a>
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<a href="#biochemicalFeatures">Biochemical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#heterogeneity">Heterogeneity</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#populationGenetics">Population Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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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 id="mimFloatingLinksMenu">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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</div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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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-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</div>
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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 1, TORSION, AUTOSOMAL DOMINANT" 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=3643&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/NBK1492/" 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/2406" 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/early-onset-isolated-dystonia" 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=128100[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=256" 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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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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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:0060730" 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/128100" 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:0060730" 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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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" 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="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</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="mimCellLinesLinksFold" 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://catalog.coriell.org/Search?q=OmimNum:128100" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></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>
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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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</span>
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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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<div>
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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>ORPHA:</strong> 256<br />
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<strong>DO:</strong> 0060730<br />
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">ICD+</a>
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</div>
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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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128100
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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 1, TORSION, AUTOSOMAL DOMINANT; DYT1
|
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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 MUSCULORUM DEFORMANS 1<br />
|
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EARLY-ONSET TORSION DYSTONIA; EOTD
|
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</span>
|
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
|
<a id="phenotypeMap" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
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<th>
|
|
Phenotype <br /> MIM number
|
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</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/9/571?start=-3&limit=10&highlight=571">
|
|
9q34.11
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Dystonia-1, torsion
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/128100"> 128100 </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">
|
|
TOR1A
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605204"> 605204 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
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<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/128100" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS128100" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/128100" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/128100" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Face </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Facial grimace <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/37126005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">37126005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234853&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234853</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000273" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000273</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Blepharospasm <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/59026006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">59026006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G24.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G24.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/333.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">333.81</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0005747&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0005747</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000643" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000643</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000643" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000643</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>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Spine </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Lordosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/61960001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">61960001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249710008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249710008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1187290008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1187290008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M40.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M40.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0599412&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0599412</a>, <a href="https://bioportal.bioontology.org/search?q=C0024003&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0024003</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003307" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003307</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003307" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003307</a>]</span><br /> -
|
|
Kyphosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/71311003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">71311003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/414564002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">414564002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/413428007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">413428007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M40.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M40.20</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q76.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q76.41</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/737.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">737.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0265673&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265673</a>, <a href="https://bioportal.bioontology.org/search?q=C0022821&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022821</a>, <a href="https://bioportal.bioontology.org/search?q=C2115817&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2115817</a>, <a href="https://bioportal.bioontology.org/search?q=C0022822&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022822</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002808" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002808</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002808" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002808</a>]</span><br /> -
|
|
Scoliosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/298382003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">298382003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20944008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20944008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111266001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111266001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M41.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0559260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0559260</a>, <a href="https://bioportal.bioontology.org/search?q=C0036439&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036439</a>, <a href="https://bioportal.bioontology.org/search?q=C0700208&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700208</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</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">
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<strong> NEUROLOGIC </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Central Nervous System </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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- Torsion dystonia (involuntary sustained muscle contractions, twisting and repetitive movements, abnormal posturing) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851946&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851946</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/431034009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">431034009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G24.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G24.1</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001304" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001304</a>]</span><br /> -
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Begins in limbs, later generalized (childhood onset) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851947&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851947</a>]</span><br /> -
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Focal dystonia (adult onset) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851948&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851948</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/445006008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">445006008</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004373" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004373</a>]</span><br /> -
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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 /> -
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Tremor <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26079004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26079004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R25.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R25.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0040822&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0040822</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001337" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001337</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001337" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001337</a>]</span><br /> -
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Hypotonia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398151007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398151007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398152000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398152000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026827&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026827</a>, <a href="https://bioportal.bioontology.org/search?q=C1858120&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858120</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001290" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001290</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span><br /> -
|
|
Hypertonia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/56731001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">56731001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/41581000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">41581000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026826&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026826</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001276" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001276</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001276" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001276</a>]</span><br /> -
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|
Writer's cramp <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/191744004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">191744004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/52008007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">52008007</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/333.84" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">333.84</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0338902&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0338902</a>, <a href="https://bioportal.bioontology.org/search?q=C0154676&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0154676</a>, <a href="https://bioportal.bioontology.org/search?q=C4316810&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4316810</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002356" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002356</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002356" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002356</a>]</span><br /> -
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Isolated focal dystonia may occur <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851949&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851949</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/445006008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">445006008</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004373" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004373</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 />
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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">
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<strong> MISCELLANEOUS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Onset in mid to late childhood<br /> -
|
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Occasional adult onset<br /> -
|
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Wide phenotypic variability<br /> -
|
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High incidence among Ashkenazi Jews<br /> -
|
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Incomplete penetrance (as low as 30% in some cases) <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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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by mutations in the torsion dystonia-1 gene (DYT1, <a href="/entry/605204#0001">605204.0001</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">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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</div>
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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small">
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<div class="row">
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<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
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<h5>
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Dystonia
|
|
- <a href="/phenotypicSeries/PS128100">PS128100</a>
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- 37 Entries
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</h5>
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</div>
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</div>
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<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
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<table class="table table-bordered table-condensed table-hover mim-table-padding">
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<thead>
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<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Location</strong>
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</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
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</th>
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|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<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>
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|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/65?start=-3&limit=10&highlight=65"> 1p36.32-p36.13 </a>
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|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607671"> Dystonia 13, torsion </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607671"> 607671 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607671"> DYT13 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607671"> 607671 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/373?start=-3&limit=10&highlight=373"> 1p35.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617282"> Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617282"> 617282 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608205"> MECR </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608205"> 608205 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/409?start=-3&limit=10&highlight=409"> 1p35.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/224500"> Dystonia 2, torsion, autosomal recessive </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/224500"> 224500 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/142622"> HPCA </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/142622"> 142622 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/513?start=-3&limit=10&highlight=513"> 1p34.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/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/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/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">
|
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<a href="/entry/619921"> 619921 </a>
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613663"> SHQ1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613663"> 613663 </a>
|
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</span>
|
|
</td>
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</tr>
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|
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|
<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>
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|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/376?start=-3&limit=10&highlight=376"> 5q22.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619724"> ?Dystonia 34, myoclonic </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619724"> 619724 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605879"> KCNN2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605879"> 605879 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/425?start=-3&limit=10&highlight=425"> 7q21.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/159900"> Dystonia-11, myoclonic </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/159900"> 159900 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604149"> SGCE </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604149"> 604149 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/239?start=-3&limit=10&highlight=239"> 8p11.21 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602629"> Dystonia 6, torsion </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602629"> 602629 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609520"> THAP1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609520"> 609520 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/326?start=-3&limit=10&highlight=326"> 9q22.32 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619565"> Dystonia 31 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619565"> 619565 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619600"> AOPEP </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619600"> 619600 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/514?start=-3&limit=10&highlight=514"> 9q34 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614860"> Dystonia 23 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614860"> 614860 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614860"> DYT23 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614860"> 614860 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/571?start=-3&limit=10&highlight=571"> 9q34.11 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/128100"> Dystonia-1, torsion </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/128100"> 128100 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605204"> TOR1A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605204"> 605204 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/249?start=-3&limit=10&highlight=249"> 11p14.3-p14.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615034"> Dystonia 24 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615034"> 615034 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610110"> ANO3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610110"> 610110 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/629?start=-3&limit=10&highlight=629"> 11q13.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620245"> Episodic kinesigenic dyskinesia 3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620245"> 620245 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620108"> TMEM151A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620108"> 620108 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/1003?start=-3&limit=10&highlight=1003"> 11q23.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619637"> ?Dystonia 32 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619637"> 619637 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608549"> VPS11 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608549"> 608549 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/252?start=-3&limit=10&highlight=252"> 14q22.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/128230"> Dystonia, DOPA-responsive </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/128230"> 128230 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600225"> GCH1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600225"> 600225 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/330?start=-3&limit=10&highlight=330"> 16p11.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/128200"> Episodic kinesigenic dyskinesia 1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/128200"> 128200 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614386"> PRRT2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614386"> 614386 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/449?start=-3&limit=10&highlight=449"> 16q13-q22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611031"> Episodic kinesigenic dyskinesia 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611031"> 611031 </a>
|
|
</span>
|
|
</td>
|
|
<td>
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<span class="mim-font">
|
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<a href="/entry/611031"> EKD2 </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/611031"> 611031 </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/17/784?start=-3&limit=10&highlight=784"> 17q22 </a>
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</span>
|
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</td>
|
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<td>
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<span class="mim-font">
|
|
<a href="/entry/620456"> ?Dystonia 22, adult-onset </a>
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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|
</span>
|
|
</td>
|
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<td>
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<span class="mim-font">
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<a href="/entry/620456"> 620456 </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/610764"> TSPOAP1 </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/610764"> 610764 </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/17/784?start=-3&limit=10&highlight=784"> 17q22 </a>
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/620453"> Dystonia 22, juvenile-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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|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
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|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
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</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620453"> 620453 </a>
|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610764"> TSPOAP1 </a>
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610764"> 610764 </a>
|
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</span>
|
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</td>
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</tr>
|
|
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
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|
<a href="/geneMap/18/4?start=-3&limit=10&highlight=4"> 18p11 </a>
|
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|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607488"> Dystonia-15, myoclonic </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607488"> 607488 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607488"> DYT15 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607488"> 607488 </a>
|
|
</span>
|
|
</td>
|
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</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/18/5?start=-3&limit=10&highlight=5"> 18p </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602124"> Dystonia-7, torsion </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602124"> 602124 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602124"> DYT7 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602124"> 602124 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/18/57?start=-3&limit=10&highlight=57"> 18p11.21 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615073"> Dystonia 25 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615073"> 615073 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/139312"> GNAL </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/139312"> 139312 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/185?start=-3&limit=10&highlight=185"> 19p13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/128101"> Dystonia 4, torsion, autosomal dominant </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/128101"> 128101 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602662"> TUBB4A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602662"> 602662 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/595?start=-3&limit=10&highlight=595"> 19q13.12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617284"> Dystonia 28, childhood-onset </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617284"> 617284 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606834"> KMT2B </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606834"> 606834 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/745?start=-3&limit=10&highlight=745"> 19q13.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/128235"> Dystonia-12 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/128235"> 128235 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/182350"> ATP1A3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/182350"> 182350 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/20/40?start=-3&limit=10&highlight=40"> 20p13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619291"> Dystonia 30 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619291"> 619291 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608550"> VPS16 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608550"> 608550 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/20/116?start=-3&limit=10&highlight=116"> 20p11.2-q13.12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612406"> Dystonia-17, primary torsion </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612406"> 612406 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612406"> DYT17 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612406"> 612406 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/22/234?start=-3&limit=10&highlight=234"> 22q12.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616398"> Dystonia 26, myoclonic </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616398"> 616398 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616386"> KCTD17 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616386"> 616386 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/410?start=-3&limit=10&highlight=410"> Xq13.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/314250"> Dystonia-Parkinsonism, X-linked </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/314250"> 314250 </a>
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/313650"> TAF1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/313650"> 313650 </a>
|
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</span>
|
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</td>
|
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</tr>
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|
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</tbody>
|
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</table>
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</div>
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<div class="text-right small">
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</h4>
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<p>A number sign (#) is used with this entry because of evidence that torsion dystonia-1 (DYT1) is caused by heterozygous mutation in the TOR1A gene (<a href="/entry/605204">605204</a>), encoding the ATP-binding protein torsin-A, on chromosome 9q34.</p>
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<p>'Dystonia' describes a neurologic condition characterized by involuntary, sustained muscle contractions affecting one or more sites of the body; 'torsion' refers to the twisting nature of body movements observed in dystonia. Dystonia has been classified as primary (dystonia as the sole or major symptom) or secondary (a symptom of another disorder), and by age of onset, muscle groups affected, and mode of inheritance (<a href="#42" class="mim-tip-reference" title="Muller, U., Kupke, K. G. <strong>The genetics of primary torsion dystonia.</strong> Hum. Genet. 84: 107-115, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2404852/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2404852</a>] [<a href="https://doi.org/10.1007/BF00208922" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2404852">Muller and Kupke, 1990</a>; <a href="#44" class="mim-tip-reference" title="Nemeth, A. H. <strong>The genetics of primary dystonias and related disorders.</strong> Brain 125: 695-721, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11912106/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11912106</a>] [<a href="https://doi.org/10.1093/brain/awf090" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11912106">Nemeth, 2002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2404852+11912106" 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>Primary torsion dystonia (also known as 'idiopathic' torsion dystonia; ITD) usually begins in childhood or adolescence with involuntary posturing of the trunk, neck, or limbs (<a href="#39" class="mim-tip-reference" title="Marsden, C. D., Harrison, J. G., Bundey, S. <strong>Natural history of idiopathic torsion dystonia.</strong> Adv. Neurol. 14: 177-187, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/941771/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">941771</a>]" pmid="941771">Marsden et al., 1976</a>; <a href="#44" class="mim-tip-reference" title="Nemeth, A. H. <strong>The genetics of primary dystonias and related disorders.</strong> Brain 125: 695-721, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11912106/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11912106</a>] [<a href="https://doi.org/10.1093/brain/awf090" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11912106">Nemeth, 2002</a>). Some patients have a myostatic picture, such as was described by <a href="#58" class="mim-tip-reference" title="Wechsler, I. S., Brock, S. <strong>Dystonia musculorum deformans with especial reference to a myostatic form and the occurrence of decerebrate rigidity phenomena. A study of six cases.</strong> Arch. Neurol. Psychiat. 8: 538-552, 1922."None>Wechsler and Brock (1922)</a>. <a href="#26" class="mim-tip-reference" title="Johnson, W., Schwartz, G., Barbeau, A. <strong>Studies on dystonia musculorum deformans.</strong> Arch. Neurol. 7: 301-313, 1962.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13957880/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13957880</a>] [<a href="https://doi.org/10.1001/archneur.1962.04210040053005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13957880">Johnson et al. (1962)</a> described an extensively affected French-Canadian family. Age of onset of affected family members ranged from 6 to 42 years and severity of the disease varied considerably, with early-onset cases being severely affected. Minor manifestations interpreted as 'formes frustes' were found in some family members. In a large North American family of non-Jewish ancestry, <a href="#8" class="mim-tip-reference" title="Brin, M. F., Moskowitz, C. B., Bressman, S. B., Burke, R. E., deLeon, D., Risch, N., Fahn, S. <strong>Autosomal dominant dystonia in a large North American family: clinical features. (Abstract)</strong> Am. J. Hum. Genet. 45 (suppl.): A41, 1989."None>Brin et al. (1989)</a> found that age of onset ranged from 4 to 43 years (mean 14.4, median 10.0). Generalization occurred within a median time of 3 years and occurred earlier in cases with onset in the leg. One 6.5-year-old was unable to walk within 3 months of onset. <a href="#3" class="mim-tip-reference" title="Batshaw, M. L., Wachtel, R. C., Deckel, A. W., Whitehouse, P. J., Moses, H., III, Fochtman, L. J., Eldridge, R. <strong>Munchausen's syndrome simulating torsion dystonia.</strong> New Eng. J. Med. 312: 1437-1439, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3990745/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3990745</a>] [<a href="https://doi.org/10.1056/NEJM198505303122207" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3990745">Batshaw et al. (1985)</a> described a patient with severe simulated torsion dystonia as the main feature of Munchausen syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13957880+3990745+941771+11912106" 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="Bressman, S. B., de Leon, D., Kramer, P. L., Ozelius, L. J., Brin, M. F., Greene, P. E., Fahn, S., Breakefield, X. O., Risch, N. J. <strong>Dystonia in Ashkenazi Jews: clinical characterization of a founder mutation.</strong> Ann. Neurol. 36: 771-777, 1994. Note: Erratum: Ann. Neurol. 37: 140 only, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7979224/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7979224</a>] [<a href="https://doi.org/10.1002/ana.410360514" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7979224">Bressman et al. (1994)</a> analyzed the haplotype of 174 Ashkenazi Jewish individuals affected with torsion dystonia. In this group, there were 90 carriers of the haplotype and 70 noncarriers. The authors found very striking differences in the phenotype between carriers and noncarriers. The age of onset in carriers was 12.5 years versus 36.5 years in the noncarriers. In 94% of carriers, symptoms began in a limb but only rarely in the neck and larynx. In contrast, the neck, larynx, or other cranial muscles were the site of onset in 79% of noncarriers. Discriminant analysis of limb onset, leg involvement, and age at onset distinguished haplotype carriers from noncarriers with 90% accuracy. In 23 of the 70 noncarriers, the disease was familial and included brachial, cervical, laryngeal, and facial dystonia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7979224" 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="Cheng, J. T., Liu, A., Wasmuth, J., Liu, B. P., Truong, D. <strong>Clinical evidence of genetic anticipation in adult-onset idiopathic dystonia.</strong> Neurology 47: 215-219, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8710081/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8710081</a>] [<a href="https://doi.org/10.1212/wnl.47.1.215" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8710081">Cheng et al. (1996)</a> studied 49 probands with cervical or cranial dystonia with age of onset greater than 12 years and with a positive family history. They found that age of onset of clinical symptoms was earlier by an average of 21.25 years in the second generation than in the first, and suggested that an unstable trinucleotide repeat may be involved in adult-onset primary cranial or cervical dystonia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8710081" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#21" class="mim-tip-reference" title="Grundmann, K., Laubis-Herrmann, U., Bauer, I., Dressler, D., Vollmer-Haase, J., Bauer, P., Stuhrmann, M., Schulte, T., Schols, L., Topka, H., Riess, O. <strong>Frequency and phenotypic variability of the GAG deletion of the DYT1 gene in an unselected group of patients with dystonia.</strong> Arch. Neurol. 60: 1266-1270, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12975293/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12975293</a>] [<a href="https://doi.org/10.1001/archneur.60.9.1266" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12975293">Grundmann et al. (2003)</a> stated that most cases of early-onset generalized dystonia are caused by a 3-bp deletion in the DYT1 gene (delE302/303; <a href="/entry/605204#0001">605204.0001</a>). They reported 6 patients with dystonia caused by the 3-bp deletion who exhibited wide phenotypic variability: 2 had classic early-onset primary generalized dystonia, 2 had multifocal dystonia (1 with cranial and cervical muscle involvement), and 2 had only writer's cramp with mild progression. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12975293" 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="#29" class="mim-tip-reference" title="Kostic, V. S., Svetel, M., Kabakci, K., Ristic, A., Petrovic, I., Schule, B., Kock, N., Djarmati, A., Romac, S., Klein, C. <strong>Intrafamilial phenotypic and genetic heterogeneity of dystonia.</strong> J. Neurol. Sci. 250: 92-96, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17027035/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17027035</a>] [<a href="https://doi.org/10.1016/j.jns.2006.07.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17027035">Kostic et al. (2006)</a> reported a large Serbian family in which 7 members carried the delE302/303 DYT1 mutation (<a href="/entry/605204#0001">605204.0001</a>). However, only 2 were affected by dystonia, indicating a penetrance of 29%. One of the affected individuals had late-onset mild torticollis, and the other had generalized jerky dystonia. In addition, 3 family members with dystonia did not carry the DYT1 mutation, indicating genetic heterogeneity or possibly a psychogenic origin. <a href="#29" class="mim-tip-reference" title="Kostic, V. S., Svetel, M., Kabakci, K., Ristic, A., Petrovic, I., Schule, B., Kock, N., Djarmati, A., Romac, S., Klein, C. <strong>Intrafamilial phenotypic and genetic heterogeneity of dystonia.</strong> J. Neurol. Sci. 250: 92-96, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17027035/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17027035</a>] [<a href="https://doi.org/10.1016/j.jns.2006.07.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17027035">Kostic et al. (2006)</a> commented on the phenotypic variability in this family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17027035" 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="#66" class="mim-tip-reference" title="Zirn, B., Grundmann, K., Huppke, P., Puthenparampil, J., Wolburg, H., Riess, O., Muller, U. <strong>Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1).</strong> J. Neurol. Neurosurg. Psychiat. 79: 1327-1330, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18477710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18477710</a>] [<a href="https://doi.org/10.1136/jnnp.2008.148270" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18477710">Zirn et al. (2008)</a> reported an 18-year-old girl with a severe form of early-onset dystonia. She had mildly delayed early motor development with stalling of further development during the second year of life. She never learned to walk independently and became wheelchair-bound at age 5 years. At age 13, she could no longer eat or drink without assistance. At age 18, she had dysphagia, severe dysarthria, facial palsy with reduced tongue mobility, dystonic movements, multiple joint contractures, increased muscle tone, hyperreflexia, and extensor plantar responses. Cognition was normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18477710" 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>Neuroradiologic Studies</em></strong></p><p>
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In 12 nonmanifesting carriers of a DYT1 mutation (<a href="/entry/605204#0001">605204.0001</a>), <a href="#20" class="mim-tip-reference" title="Ghilardi, M.-F., Carbon, M., Silvestri, G., Dhawan, V., Tagliati, M., Bressman, S., Ghez, C., Eidelberg, D. <strong>Impaired sequence learning in carriers of the DYT1 dystonia mutation.</strong> Ann. Neurol. 54: 102-109, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12838525/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12838525</a>] [<a href="https://doi.org/10.1002/ana.10610" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12838525">Ghilardi et al. (2003)</a> found decreased learning of new motor sequence tasks, compared to controls. PET scans during the tasks showed some areas of brain overactivity in the carriers, including in the premotor and supplemental motor cortices. The authors concluded that clinically unaffected DYT1 mutation carriers exhibit mild abnormalities in motor behavior and brain functioning, suggesting an innate compensation for mild striatal dysfunction. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12838525" 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>Using diffusion tensor magnetic resonance imaging (DTI) to assess axonal integrity and coherence in the brain, <a href="#11" class="mim-tip-reference" title="Carbon, M., Kingsley, P. B., Su, S., Smith, G. S., Spetsieris, P., Bressman, S., Eidelberg, D. <strong>Microstructural white matter changes in carriers of the DYT1 gene mutation.</strong> Ann. Neurol. 56: 283-286, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15293281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15293281</a>] [<a href="https://doi.org/10.1002/ana.20177" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15293281">Carbon et al. (2004)</a> found that 4 clinically affected DYT1 patients and 8 nonmanifesting DYT1 carriers had microstructural disturbances of the white matter pathways that carry afferents and efferents to the primary sensorimotor cortex compared to controls. The changes were more severe in the clinically affected patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15293281" 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>Using PET scans, <a href="#13" class="mim-tip-reference" title="Carbon, M., Su, S., Dhawan, V., Raymond, D., Bressman, S., Eidelberg, D. <strong>Regional metabolism in primary torsion dystonia: effects of penetrance and genotype.</strong> Neurology 62: 1384-1390, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15111678/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15111678</a>] [<a href="https://doi.org/10.1212/01.wnl.0000120541.97467.fe" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15111678">Carbon et al. (2004)</a> found that manifesting gene carriers of DYT1 and DYT6 (<a href="/entry/602629">602629</a>) had bilateral hypermetabolism in the presupplementary motor area and parietal association cortices compared to their respective nonmanifesting gene carriers. DYT1 carriers as a whole showed increased metabolism in the inferior cerebellum and putamen, with decreases in the anterior cingulate. In contrast, DYT6 carriers as a whole showed hypometabolism in the putamen and hypermetabolism in the temporal cortex. <a href="#13" class="mim-tip-reference" title="Carbon, M., Su, S., Dhawan, V., Raymond, D., Bressman, S., Eidelberg, D. <strong>Regional metabolism in primary torsion dystonia: effects of penetrance and genotype.</strong> Neurology 62: 1384-1390, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15111678/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15111678</a>] [<a href="https://doi.org/10.1212/01.wnl.0000120541.97467.fe" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15111678">Carbon et al. (2004)</a> concluded that dystonia in general is a disease of 'movement preparation' driven by a disruption of sensorimotor integration, but that unique metabolic abnormalities, particularly in subcortical structures, may represent genotype-specific differences. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15111678" 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>Using PET scans and radiolabeled raclopride, <a href="#1" class="mim-tip-reference" title="Asanuma, K., Ma, Y., Okulski, J., Dhawan, V., Chaly, T., Carbon, M., Bressman, S. B., Eidelberg, D. <strong>Decreased striatal D2 receptor binding in non-manifesting carriers of the DYT1 dystonia mutation.</strong> Neurology 64: 347-349, 2005. Note: Erratum: Neurology 37: 140 only, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15668438/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15668438</a>] [<a href="https://doi.org/10.1212/01.WNL.0000149764.34953.BF" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15668438">Asanuma et al. (2005)</a> found that 9 nonmanifesting carriers of DYT1 mutations had significantly reduced striatal D2 receptor (DRD2; <a href="/entry/126450">126450</a>)-binding compared to 13 control individuals. DYT1 carriers had a reduction in D2 binding in the caudate and ventral putamen. Although <a href="#1" class="mim-tip-reference" title="Asanuma, K., Ma, Y., Okulski, J., Dhawan, V., Chaly, T., Carbon, M., Bressman, S. B., Eidelberg, D. <strong>Decreased striatal D2 receptor binding in non-manifesting carriers of the DYT1 dystonia mutation.</strong> Neurology 64: 347-349, 2005. Note: Erratum: Neurology 37: 140 only, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15668438/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15668438</a>] [<a href="https://doi.org/10.1212/01.WNL.0000149764.34953.BF" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15668438">Asanuma et al. (2005)</a> were not able to distinguish between D2 receptor loss and increased dopamine turnover, the findings implicated abnormal dopaminergic transmission in the pathogenesis of primary dystonia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15668438" 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>Using PET scans and radiolabeled raclopride, <a href="#12" class="mim-tip-reference" title="Carbon, M,, Niethammer, M., Peng, S., Raymond, D., Dhawan, V., Chaly, T., Ma, Y., Bressman, S., Eidelberg, D. <strong>Abnormal striatal and thalamic dopamine neurotransmission: genotype-related features of dystonia.</strong> Neurology 72: 2097-2103, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19528516/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19528516</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19528516[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1212/WNL.0b013e3181aa538f" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19528516">Carbon et al. (2009)</a> found significant reductions in caudate and putamen DRD2 availability in 21 individuals with DYT1, including 12 nonmanifesting and 9 manifesting carriers, and 12 individuals with DYT6, including 4 nonmanifesting and 8 manifesting carriers, compared to 13 controls. There was no significant difference between manifesting and nonmanifesting mutation carriers within either group, but those with DYT6 mutations had greater reductions than those with DYT1 mutations. Voxel-based analysis using stringent thresholds showed that the lateral putamen and right ventrolateral thalamus were most affected, with DYT6 carriers again more affected than DYT1 carriers. In addition, DYT6 carriers showed significantly greater reduction in the posterior putamen than DYT1 carriers. <a href="#12" class="mim-tip-reference" title="Carbon, M,, Niethammer, M., Peng, S., Raymond, D., Dhawan, V., Chaly, T., Ma, Y., Bressman, S., Eidelberg, D. <strong>Abnormal striatal and thalamic dopamine neurotransmission: genotype-related features of dystonia.</strong> Neurology 72: 2097-2103, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19528516/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19528516</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19528516[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1212/WNL.0b013e3181aa538f" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19528516">Carbon et al. (2009)</a> emphasized that there was no difference between manifesting and nonmanifesting mutation carriers, suggesting that alterations in dopamine neurotransmission are susceptibility factors for the development of clinical symptoms, but that there likely needs to be an additional insult for manifestation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19528516" 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>Neuropathologic Features</em></strong></p><p>
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<a href="#40" class="mim-tip-reference" title="McNaught, K. S. P., Kapustin, A., Jackson, T., Jengelley, T.-A., JnoBaptiste, R., Shashidharan, P., Perl, D. P., Pasik, P., Olanow, C. W. <strong>Brainstem pathology in DYT1 primary torsion dystonia.</strong> Ann. Neurol. 56: 540-547, 2004. Note: Erratum: Ann. Neurol. 56: 750 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15455404/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15455404</a>] [<a href="https://doi.org/10.1002/ana.20225" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15455404">McNaught et al. (2004)</a> found perinuclear inclusion bodies in cholinergic neurons of the midbrain reticular formation, particularly in the pedunculopontine nuclei (PPN), and periaqueductal gray matter in 4 clinically affected patients with genetically confirmed DYT1. The inclusions stained positively for ubiquitin (<a href="/entry/191339">191339</a>), torsin-A, and lamin A/C (LMNA; <a href="/entry/150330">150330</a>). No inclusion bodies were identified in the substantia nigra, striatum, hippocampus, or selected regions of the cerebral cortex. <a href="#40" class="mim-tip-reference" title="McNaught, K. S. P., Kapustin, A., Jackson, T., Jengelley, T.-A., JnoBaptiste, R., Shashidharan, P., Perl, D. P., Pasik, P., Olanow, C. W. <strong>Brainstem pathology in DYT1 primary torsion dystonia.</strong> Ann. Neurol. 56: 540-547, 2004. Note: Erratum: Ann. Neurol. 56: 750 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15455404/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15455404</a>] [<a href="https://doi.org/10.1002/ana.20225" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15455404">McNaught et al. (2004)</a> concluded that DYT1 dystonia is associated with impaired protein handling and possible disruption of the nuclear envelope, and that alterations in the brainstem may underlie the motor abnormalities in DYT1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15455404" 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="#10" class="mim-tip-reference" title="Calakos, N., Patel, V. D., Gottron, M., Wang, G., Tran-Viet, K.-N., Brewington, D., Beyer, J. L., Steffens, D. C., Krishnan, R. R., Zuchner, S. <strong>Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia.</strong> J. Med. Genet. 47: 646-650, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19955557/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19955557</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19955557[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmg.2009.072082" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19955557">Calakos et al. (2010)</a> reported a man with late-onset focal torsion dystonia of the oromandibular region occurring in the fifth decade that was associated with a heterozygous mutation (F205I; <a href="/entry/605204#0004">605204.0004</a>) in the TOR1A gene. The dystonia was characterized by involuntary jaw movements and grimacing. Neurologic examination showed cogwheel tone without rigidity and mild action tremor in the upper limbs, as well as absent ankle reflexes. He had a history of bipolar disorder, treated with lithium, and remote history of treatment with a dopamine receptor blocking agent. There was a family history of tremor and depression, but no family history of dystonia. In vitro functional expression studies in cultured cells showed that the F205I-mutant protein produced TOR1A inclusion bodies that colocalized with the endoplasmic reticulum in about 44% of cells, suggesting impaired function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19955557" 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="#22" class="mim-tip-reference" title="Heiman, G. A., Ottman, R., Saunders-Pullman, R. J., Ozelius, L. J., Risch, N. J., Bressman, S. B. <strong>Increased risk for recurrent major depression in DYT1 dystonia mutation carriers.</strong> Neurology 63: 631-637, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15326234/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15326234</a>] [<a href="https://doi.org/10.1212/01.wnl.0000137113.39225.fa" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15326234">Heiman et al. (2004)</a> administered a standard psychiatric interview to 96 manifesting carriers of the DYT1 deletion mutation (<a href="/entry/605204#0001">605204.0001</a>), 60 nonmanifesting carriers of the mutation, and 65 noncarriers. The risk for early-onset (before 30 years) recurrent major depression (see <a href="/entry/608516">608516</a>) was increased in both manifesting mutation carriers (relative risk of 3.62) and nonmanifesting mutation carriers (relative risk of 4.95) compared to noncarriers. The severity of dystonia in manifesting carriers was not associated with the likelihood of major depression, and mutation carriers did not have an increased risk for other affective disorders. <a href="#22" class="mim-tip-reference" title="Heiman, G. A., Ottman, R., Saunders-Pullman, R. J., Ozelius, L. J., Risch, N. J., Bressman, S. B. <strong>Increased risk for recurrent major depression in DYT1 dystonia mutation carriers.</strong> Neurology 63: 631-637, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15326234/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15326234</a>] [<a href="https://doi.org/10.1212/01.wnl.0000137113.39225.fa" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15326234">Heiman et al. (2004)</a> concluded that early-onset recurrent major depression is a clinical expression of the DYT1 gene mutation that is independent of dystonia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15326234" 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>Some groups have found elevation of plasma dopamine-beta-hydroxylase, the enzyme that converts dopamine to norepinephrine, in the dominant form of dystonia (<a href="#59" class="mim-tip-reference" title="Wooten, F. G., Eldridge, R., Axelrod, J., Stern, R. S. <strong>Elevated plasma dopamine-beta-hydroxylase activity in autosomal dominant torsion dystonia.</strong> New Eng. J. Med. 288: 284-287, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4682668/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4682668</a>] [<a href="https://doi.org/10.1056/NEJM197302082880604" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4682668">Wooten et al., 1973</a>; <a href="#64" class="mim-tip-reference" title="Ziegler, M. G., Lake, C. R., Eldridge, R., Kopin, I. J. <strong>Plasma norepinephrine and dopamine-beta-hydroxylase in dystonia.</strong> Adv. Neurol. 14: 307-318, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/941776/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">941776</a>]" pmid="941776">Ziegler et al., 1976</a>; <a href="#2" class="mim-tip-reference" title="Askenasy, J. J., Oberman, T. J., Herzberg, M., Carasso, R., Streifler, M. <strong>Serum dopamine beta hydroxylase activity and metoclopramide provocative test in torsion dystonia.</strong> J. Neural Transm. 47: 69-77, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7359123/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7359123</a>] [<a href="https://doi.org/10.1007/BF01256641" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7359123">Askenasy et al., 1980</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4682668+7359123+941776" 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="#24" class="mim-tip-reference" title="Hornykiewicz, O., Kish, S. J., Becker, L. E., Farley, I., Shannak, K. <strong>Brain neurotransmitters in dystonia musculorum deformans.</strong> New Eng. J. Med. 315: 347-353, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2426591/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2426591</a>] [<a href="https://doi.org/10.1056/NEJM198608073150602" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2426591">Hornykiewicz et al. (1986)</a> performed histologic and biochemical studies on the brains of 2 patients with a generalized childhood-onset form of dystonia. No important histologic change was found, but levels of norepinephrine and serotonin were decreased in some areas and elevated in others. The authors concluded that some of these changes may represent a basic abnormality of the disorder. They pointed to elevated norepinephrine levels found in an inherited dystonia of the Sprague-Dowley rat with no obvious neuropathologic changes (<a href="#38" class="mim-tip-reference" title="Lorden, J. F., McKeon, T. W., Baker, H. J., Cox, N., Walkley, S. U. <strong>Characterization of the rat mutant dystonic (dt): a new animal model of dystonia musculorum deformans.</strong> J. Neurosci. 4: 1925-1932, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6470761/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6470761</a>] [<a href="https://doi.org/10.1523/JNEUROSCI.04-08-01925.1984" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6470761">Lorden et al., 1984</a>). In this model, the alpha-2-adrenergic receptor agonist clonidine has antidystonic effects. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2426591+6470761" 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>Zeman et al. (<a href="#62" class="mim-tip-reference" title="Zeman, W., Kaelbling, R., Pasamanick, B. <strong>Idiopathic dystonia musculorum deformans. I. The hereditary pattern.</strong> Am. J. Hum. Genet. 11: 188-202, 1959.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13661153/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13661153</a>]" pmid="13661153">1959</a>, <a href="#63" class="mim-tip-reference" title="Zeman, W., Kaelbling, R., Pasamanick, B. <strong>Idiopathic dystonia musculorum deformans.</strong> Neurology 10: 1068-1075, 1960.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13788192/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13788192</a>] [<a href="https://doi.org/10.1212/wnl.10.12.1068" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13788192">1960</a>) traced the disorder through 4 generations and <a href="#36" class="mim-tip-reference" title="Larsson, T., Sjogren, T. <strong>Dystonia musculorum deformans: a clinical and genetic population study. In: Gedda, L. (ed.): Proceedings of the Second International Congress of Human Genetics, Rome, Sept. 6-12, 1961. Vol. 3.</strong> Rome: Istituto G. Mendel (pub.) 1963. Pp. 1659-1662."None>Larsson and Sjogren (1963)</a> traced it through 5 generations. <a href="#65" class="mim-tip-reference" title="Zilber, N., Korczyn, A. D., Kahana, E., Fried, K., Alter, M. <strong>Inheritance of idiopathic torsion dystonia among Jews.</strong> J. Med. Genet. 21: 13-20, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6694180/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6694180</a>] [<a href="https://doi.org/10.1136/jmg.21.1.13" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6694180">Zilber et al. (1984)</a> analyzed data from a nationwide survey of idiopathic torsion dystonia in Israel. Assuming that all cases fit the same genetic model, an X-linked or simple autosomal recessive model could be rejected. An autosomal dominant model with low penetrance could have accounted for the observations. Paternal age was increased (33.8 vs 30.1, p = 0.01) for isolated cases. <a href="#9" class="mim-tip-reference" title="Bundey, S., Harrison, M. J. G., Marsden, C. D. <strong>A genetic study of torsion dystonia.</strong> J. Med. Genet. 12: 12-19, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1121020/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1121020</a>] [<a href="https://doi.org/10.1136/jmg.12.1.12" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1121020">Bundey et al. (1975)</a> had also observed paternal age effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13661153+1121020+13788192+6694180" 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>Risch et al. (<a href="#49" class="mim-tip-reference" title="Risch, N., Bressman, S. B., deLeon, D., Brin, M. F., Burke, R. E., Greene, P. E., Shale, H., Claus, E. B., Cupples, L. A., Fahn, S. <strong>Autosomal dominant inheritance of idiopathic torsion dystonia in Ashkenazi Jews. (Abstract)</strong> Am. J. Hum. Genet. 45 (suppl.): A60, 1989."None>1989</a>, <a href="#52" class="mim-tip-reference" title="Risch, N. J., Bressman, S. B., deLeon, D., Brin, M. F., Burke, R. E., Greene, P. E., Shale, H., Claus, E. B., Cupples, L. A., Fahn, S. <strong>Segregation analysis of idiopathic torsion dystonia in Ashkenazi Jews suggests autosomal dominant inheritance.</strong> Am. J. Hum. Genet. 46: 533-538, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2309703/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2309703</a>]" pmid="2309703">1990</a>) ascertained 43 Ashkenazi Jewish probands with idiopathic torsion dystonia with onset before age 28 years and studied all available first- and second-degree relatives. The findings were considered consistent with autosomal dominant inheritance with about 30% penetrance; recessive inheritance was strongly rejected. Risch et al. (<a href="#49" class="mim-tip-reference" title="Risch, N., Bressman, S. B., deLeon, D., Brin, M. F., Burke, R. E., Greene, P. E., Shale, H., Claus, E. B., Cupples, L. A., Fahn, S. <strong>Autosomal dominant inheritance of idiopathic torsion dystonia in Ashkenazi Jews. (Abstract)</strong> Am. J. Hum. Genet. 45 (suppl.): A60, 1989."None>1989</a>, <a href="#52" class="mim-tip-reference" title="Risch, N. J., Bressman, S. B., deLeon, D., Brin, M. F., Burke, R. E., Greene, P. E., Shale, H., Claus, E. B., Cupples, L. A., Fahn, S. <strong>Segregation analysis of idiopathic torsion dystonia in Ashkenazi Jews suggests autosomal dominant inheritance.</strong> Am. J. Hum. Genet. 46: 533-538, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2309703/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2309703</a>]" pmid="2309703">1990</a>) concluded that torsion dystonia in Ashkenazi Jews may be largely homogeneous. <a href="#5" class="mim-tip-reference" title="Bressman, S. B., de Leon, D., Brin, M. F., Risch, N., Burke, R. E., Greene, P. E., Shale, H., Fahn, S. <strong>Idiopathic dystonia among Ashkenazi Jews: evidence for autosomal dominant inheritance.</strong> Ann. Neurol. 26: 612-620, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2817837/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2817837</a>] [<a href="https://doi.org/10.1002/ana.410260505" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2817837">Bressman et al. (1989)</a> studied 39 kindreds derived from 43 independently ascertained probands of Ashkenazi ancestry. The age-adjusted risk for all first-degree relatives was 15.5% and for all second-degree relatives 6.5%, with no significant sex differences; parent, offspring, and sib risks did not differ significantly. The risks were consistent with autosomal dominant inheritance with a penetrance estimated at 29.4% using definite cases only, and 32.2% using definite and probable cases. Assuming a disease frequency of 1 in 15,000, the gene frequency was estimated to be 1 in 9,000. Penetrance in this disorder is usually low (approximately 30%), but varies considerably between families; the particularly large French-Canadian family first described by <a href="#26" class="mim-tip-reference" title="Johnson, W., Schwartz, G., Barbeau, A. <strong>Studies on dystonia musculorum deformans.</strong> Arch. Neurol. 7: 301-313, 1962.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13957880/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13957880</a>] [<a href="https://doi.org/10.1001/archneur.1962.04210040053005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13957880">Johnson et al. (1962)</a> showed a penetrance greater than 90%. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13957880+2309703+2817837" 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="#42" class="mim-tip-reference" title="Muller, U., Kupke, K. G. <strong>The genetics of primary torsion dystonia.</strong> Hum. Genet. 84: 107-115, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2404852/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2404852</a>] [<a href="https://doi.org/10.1007/BF00208922" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2404852">Muller and Kupke (1990)</a> reviewed the genetics of primary torsion dystonia and noted there are multiple forms of autosomal dominant torsion dystonia. They also listed genetic and nongenetic causes of secondary dystonia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2404852" 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 1 French and 26 British families with torsion dystonia, 3 of which were Ashkenazi Jewish, <a href="#57" class="mim-tip-reference" title="Warner, T. T., Fletcher, N. A., Davis, M. B., Ahmad, F., Conway, D., Feve, A., Rondot, P., Marsden, C. D., Harding, A. E. <strong>Linkage analysis in British and French families with idiopathic torsion dystonia.</strong> Brain 116: 739-744, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8513401/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8513401</a>] [<a href="https://doi.org/10.1093/brain/116.3.739" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8513401">Warner et al. (1993)</a> found that nearly half of the dystonia families may be of a variety unlinked to 9q34, supporting the existence of genetic heterogeneity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8513401" 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="#19" class="mim-tip-reference" title="Gasser, T., Bove, C. M., Ozelius, L. J., Hallett, M., Charness, M. E., Hochberg, F. H., Breakefield, X. O. <strong>Haplotype analysis at the DYT1 locus in Ashkenazi Jewish patients with occupational hand dystonia.</strong> Mov. Disord. 11: 163-166, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8684386/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8684386</a>] [<a href="https://doi.org/10.1002/mds.870110208" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8684386">Gasser et al. (1996)</a> found no common haplotypes in the DYT1 region on chromosome 9q in 10 Ashkenazi Jewish patients with focal hand dystonia, indicating separate etiology for this disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8684386" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a review of primary dystonias, <a href="#43" class="mim-tip-reference" title="Muller, U., Steinberger, D., Nemeth, A. H. <strong>Clinical and molecular genetics of primary dystonias.</strong> Neurogenetics 1: 165-177, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10737119/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10737119</a>] [<a href="https://doi.org/10.1007/s100480050025" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10737119">Muller et al. (1998)</a> indicated that at least 8 clinically distinct autosomal dominant and 2 X-linked recessive forms had been identified. In addition, pedigree analyses suggested the occurrence of an autosomal recessive variant. They tabulated the primary dystonias, numbered 1 through 12, and proposed that most of them can be distinguished by genetic criteria. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10737119" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#15" class="mim-tip-reference" title="Contarino, M. F., Berger-Plantinga, E., Foncke, E. M. J., Ritz, K., Mellema, J., Baas, F., Speelman, J. D., Tijssen, M. A. J. <strong>Clinical and genetic characterization of a large Dutch family with primary focal dystonia.</strong> Mov. Disord. 23: 1998-2003, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18823044/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18823044</a>] [<a href="https://doi.org/10.1002/mds.22206" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18823044">Contarino et al. (2008)</a> reported a large consanguineous family with adult-onset primary focal dystonia from a small Dutch village on a former island. There were 8 affected and 4 possibly affected individuals, with a mean age at onset of 45.5 years. Common clinical features included cervical dystonia, blepharospasm, writer's cramp, and mild arm tremor. The symptoms overall were quite mild in all patients. <a href="#15" class="mim-tip-reference" title="Contarino, M. F., Berger-Plantinga, E., Foncke, E. M. J., Ritz, K., Mellema, J., Baas, F., Speelman, J. D., Tijssen, M. A. J. <strong>Clinical and genetic characterization of a large Dutch family with primary focal dystonia.</strong> Mov. Disord. 23: 1998-2003, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18823044/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18823044</a>] [<a href="https://doi.org/10.1002/mds.22206" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18823044">Contarino et al. (2008)</a> noted that the transmission pattern could be consistent with autosomal recessive inheritance, given the consanguinity, or with autosomal dominant inheritance with reduced penetrance, because there was an instance of father-to-son transmission. Genetic analysis excluded mutations in the TOR1A and SGCE (<a href="/entry/604149">604149</a>) genes, and linkage analysis excluded several DYT loci. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18823044" 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 the large non-Jewish kindred studied by <a href="#33" class="mim-tip-reference" title="Kramer, P. L., Ozelius, L., Gusella, J. F., Fahn, S., Kidd, K. K., Breakefield, X. O. <strong>Exclusion of autosomal dominant dystonia gene from large regions of chromosomes 11p, 13q, and 21q by multi-point linkage analysis.</strong> Genet. Epidemiol. 4: 377-386, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3692135/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3692135</a>] [<a href="https://doi.org/10.1002/gepi.1370040506" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3692135">Kramer et al. (1987)</a>, <a href="#48" class="mim-tip-reference" title="Ozelius, L., Kramer, P. L., Moskowitz, C. B., Kwiatkowski, D. J., Brin, M. F., Bressman, S. B., Schuback, D. E., Falk, C. T., Risch, N., deLeon, D., Burke, R. E., Haines, J., Gusella, J. F., Fahn, S., Breakefield, X. O. <strong>Human gene for torsion dystonia located on chromosome 9q32-q34.</strong> Neuron 2: 1427-1434, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2576373/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2576373</a>] [<a href="https://doi.org/10.1016/0896-6273(89)90188-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2576373">Ozelius et al. (1989)</a> found tight linkage with the gene encoding gelsolin (<a href="/entry/137350">137350</a>); maximum lod score = 3.51 at theta = 0.0 cM. <a href="#48" class="mim-tip-reference" title="Ozelius, L., Kramer, P. L., Moskowitz, C. B., Kwiatkowski, D. J., Brin, M. F., Bressman, S. B., Schuback, D. E., Falk, C. T., Risch, N., deLeon, D., Burke, R. E., Haines, J., Gusella, J. F., Fahn, S., Breakefield, X. O. <strong>Human gene for torsion dystonia located on chromosome 9q32-q34.</strong> Neuron 2: 1427-1434, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2576373/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2576373</a>] [<a href="https://doi.org/10.1016/0896-6273(89)90188-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2576373">Ozelius et al. (1989)</a> concluded from multipoint linkage analysis that the DYT1 locus lies in the 9q32-q34 region between ABO and D9S26, a region that also contains the locus for dopamine-beta-hydroxylase, a possible candidate gene. In a study of 12 multiplex Ashkenazi Jewish families, Kramer et al. (<a href="#34" class="mim-tip-reference" title="Kramer, P. L., Ozelius, L., Risch, N., deLeon, D., Bressman, S., Brin, M., Schuback, D., Gusella, J., Breakefield, X. O., Fahn, S. <strong>Gene for dystonia in Ashkenazi Jewish population located on chromosome 9q. (Abstract)</strong> Am. J. Hum. Genet. 45 (suppl.): A147, 1989."None>1989</a>, <a href="#31" class="mim-tip-reference" title="Kramer, P. L., de Leon, D., Ozelius, L., Risch, N., Bressman, S. B., Brin, M. F., Schuback, D. E., Burke, R. E., Kwiatkowski, D. J., Shale, H., Gusella, J. F., Breakefield, X. O., Fahn, S. <strong>Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32-34.</strong> Ann. Neurol. 27: 114-120, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2317008/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2317008</a>] [<a href="https://doi.org/10.1002/ana.410270203" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2317008">1990</a>) confirmed the assignment to 9q32-q34. <a href="#31" class="mim-tip-reference" title="Kramer, P. L., de Leon, D., Ozelius, L., Risch, N., Bressman, S. B., Brin, M. F., Schuback, D. E., Burke, R. E., Kwiatkowski, D. J., Shale, H., Gusella, J. F., Breakefield, X. O., Fahn, S. <strong>Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32-34.</strong> Ann. Neurol. 27: 114-120, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2317008/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2317008</a>] [<a href="https://doi.org/10.1002/ana.410270203" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2317008">Kramer et al. (1990)</a> demonstrated close linkage with the gene encoding argininosuccinate synthetase (ASS; <a href="/entry/603470">603470</a>). This suggests that the mutation causing the Ashkenazi Jewish disease is in the same gene as that causing dystonia in the non-Jewish kindred in which linkage to gelsolin was demonstrated. In a large non-Jewish family and in a group of Ashkenazi Jewish families, <a href="#35" class="mim-tip-reference" title="Kwiatkowski, D. J., Ozelius, L., Kramer, P. L., Perman, S., Schuback, D. E., Gusella, J. F., Fahn, S., Breakefield, X. O. <strong>Torsion dystonia genes in two populations confined to a small region on chromosome 9q32-34.</strong> Am. J. Hum. Genet. 49: 366-371, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1867195/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1867195</a>]" pmid="1867195">Kwiatkowski et al. (1991)</a> used GT repeat polymorphisms from the 9q32-q34 region to demonstrate that the causative gene in both groups was in this region, in an 11-cM interval between AK1 (<a href="/entry/103000">103000</a>) and D9S10. Using (GT)n and RFLP markers from the region 9q32-q34, <a href="#47" class="mim-tip-reference" title="Ozelius, L. J., Kramer, P. L., de Leon, D., Risch, N., Bressman, S. B., Schuback, D. E., Brin, M. F., Kwiatkowski, D. J., Burke, R. E., Gusella, J. F., Fahn, S., Breakefield, X. O. <strong>Strong allelic association between the torsion dystonia gene (DYT1) and loci on chromosome 9q34 in Ashkenazi Jews.</strong> Am. J. Hum. Genet. 50: 619-628, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1347197/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1347197</a>]" pmid="1347197">Ozelius et al. (1992)</a> delineated the area containing the DYT1 gene to a 6-cM region bounded by loci AK1 and ASS. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1347197+1867195+2576373+2317008+3692135" 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="#57" class="mim-tip-reference" title="Warner, T. T., Fletcher, N. A., Davis, M. B., Ahmad, F., Conway, D., Feve, A., Rondot, P., Marsden, C. D., Harding, A. E. <strong>Linkage analysis in British and French families with idiopathic torsion dystonia.</strong> Brain 116: 739-744, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8513401/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8513401</a>] [<a href="https://doi.org/10.1093/brain/116.3.739" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8513401">Warner et al. (1993)</a> determined that association observed between ABL/ASS and idiopathic torsion dystonia in Ashkenazi families in the U.S. was also present in some British Jewish kindreds. <a href="#32" class="mim-tip-reference" title="Kramer, P. L., Heiman, G. A., Gasser, T., Ozelius, L. J., de Leon, D., Brin, M. F., Burke, R. E., Hewett, J., Hunt, A. L., Moskowitz, C., Nygaard, T. G., Wilhelmsen, K. C., Fahn, S., Breakefield, X. O., Risch, N. J., Bressman, S. B. <strong>The DYT1 gene on 9q34 is responsible for most cases of early limb-onset idiopathic torsion dystonia in non-Jews.</strong> Am. J. Hum. Genet. 55: 468-475, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8079990/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8079990</a>]" pmid="8079990">Kramer et al. (1994)</a> studied 7 non-Jewish families of northern European and French-Canadian descent and found evidence for linkage to the DYT1 region in 5 of these families. Estimates of penetrance in the non-Jewish families ranged from 0.40 to 0.75. None of these families carried the Ashkenazi Jewish haplotype, suggesting that in these populations there was a different mutation in the DYT1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8513401+8079990" 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="#45" class="mim-tip-reference" title="Ozelius, L. J., Hewett, J., Kramer, P., Bressman, S. B., Shalish, C., de Leon, D., Rutter, M., Risch, N., Brin, M. F., Markova, E. D., Limborska, S. A., Ivanova-Smolenskaya, I. A., McCormick, M. K., Fahn, S., Buckler, A. J., Gusella, J. F., Breakefield, X. O. <strong>Fine localization of the torsion dystonia gene (DYT1) on human chromosome 9q34: YAC map and linkage disequilibrium.</strong> Genome Res. 7: 483-494, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9149944/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9149944</a>] [<a href="https://doi.org/10.1101/gr.7.5.483" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9149944">Ozelius et al. (1997)</a> used a YAC contig spanning 600 kb of chromosome 9q34 and several new polymorphic loci to expand the linkage disequilibrium analysis of the torsion dystonia mutation in Ashkenazi Jewish families. They concluded that the most likely location of the DYT1 gene is within a 150-kb region between D9S2161 and D9S63. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9149944" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Exclusion Studies</em></strong></p><p>
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<a href="#30" class="mim-tip-reference" title="Kramer, P., Breakefield, X., Bressman, S., Ozelius, L., Moskowitz, C., Tanzi, R., Hobbs, W., Kidd, K., Fahn, S., Gusella, J. <strong>Linkage analysis in family with dominantly-inherited torsion dystonia: exclusion of proopiomelanocortin gene and regions of chromosomes 4 and 21. (Abstract)</strong> Am. J. Hum. Genet. 37: A163, 1985."None>Kramer et al. (1985)</a> used the 'candidate gene' approach to show that the proopiomelanocortin gene (POMC; <a href="/entry/176830">176830</a>) is not linked to torsion dystonia in a kindred with the autosomal dominant form reported by <a href="#26" class="mim-tip-reference" title="Johnson, W., Schwartz, G., Barbeau, A. <strong>Studies on dystonia musculorum deformans.</strong> Arch. Neurol. 7: 301-313, 1962.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13957880/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13957880</a>] [<a href="https://doi.org/10.1001/archneur.1962.04210040053005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13957880">Johnson et al. (1962)</a>. Using the same approach, <a href="#4" class="mim-tip-reference" title="Breakefield, X. O., Bressman, S. B., Kramer, P. L., Ozelius, L., Moskowitz, C., Tanzi, R., Brin, M. F., Hobbs, W., Kaufman, D., Tobin, A., Kidd, K. K., Fahn, S., Gusella, J. F. <strong>Linkage analysis in a family with dominantly inherited torsion dystonia: exclusion of the proopiomelanocortin and glutamic acid decarboxylase genes and other chromosomal regions using DNA polymorphisms.</strong> J. Neurogenet. 3: 159-175, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3016220/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3016220</a>] [<a href="https://doi.org/10.3109/01677068609106846" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3016220">Breakefield et al. (1986)</a> excluded the POMC and glutamate decarboxylase (GAD; see <a href="/entry/605363">605363</a>) genes as the site of the mutation. <a href="#33" class="mim-tip-reference" title="Kramer, P. L., Ozelius, L., Gusella, J. F., Fahn, S., Kidd, K. K., Breakefield, X. O. <strong>Exclusion of autosomal dominant dystonia gene from large regions of chromosomes 11p, 13q, and 21q by multi-point linkage analysis.</strong> Genet. Epidemiol. 4: 377-386, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3692135/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3692135</a>] [<a href="https://doi.org/10.1002/gepi.1370040506" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3692135">Kramer et al. (1987)</a> excluded 11p, 13q, and 21q as the location of the mutation in a single non-Jewish pedigree with torsion dystonia. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13957880+3692135+3016220" 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="#46" class="mim-tip-reference" title="Ozelius, L. J., Hewett, J. W., Page, C. E., Bressman, S. B., Kramer, P. L., Shalish, C., de Leon, D., Brin, M. F., Raymond, D., Corey, D. P., Fahn, S., Risch, N. J., Buckler, A. J., Gusella, J. F., Breakefield, X. O. <strong>The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein.</strong> Nature Genet. 17: 40-48, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9288096/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9288096</a>] [<a href="https://doi.org/10.1038/ng0997-40" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9288096">Ozelius et al. (1997)</a> identified a heterozygous 3-bp deletion in the DYT1 gene (delE302/303; <a href="/entry/605204#0001">605204.0001</a>) in all affected and obligate carrier individuals with chromosome 9-linked primary dystonia, regardless of ethnic background and surrounding haplotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9288096" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a man with focal torsion dystonia of the oromandibular region occurring in the fifth decade, <a href="#10" class="mim-tip-reference" title="Calakos, N., Patel, V. D., Gottron, M., Wang, G., Tran-Viet, K.-N., Brewington, D., Beyer, J. L., Steffens, D. C., Krishnan, R. R., Zuchner, S. <strong>Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia.</strong> J. Med. Genet. 47: 646-650, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19955557/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19955557</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19955557[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmg.2009.072082" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19955557">Calakos et al. (2010)</a> identified a heterozygous mutation (F205I; <a href="/entry/605204#0004">605204.0004</a>) in the TOR1A gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19955557" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In an 18-year-old girl with severe early-onset torsion dystonia, <a href="#66" class="mim-tip-reference" title="Zirn, B., Grundmann, K., Huppke, P., Puthenparampil, J., Wolburg, H., Riess, O., Muller, U. <strong>Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1).</strong> J. Neurol. Neurosurg. Psychiat. 79: 1327-1330, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18477710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18477710</a>] [<a href="https://doi.org/10.1136/jnnp.2008.148270" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18477710">Zirn et al. (2008)</a> identified a heterozygous missense mutation in the DYT1 gene (R288Q; <a href="/entry/605204#0005">605204.0005</a>). The mutation was inherited from the patient's unaffected mother, but was not found in 500 German control individuals. Transfection of the mutation into HEK293 cells resulted in a focally enlarged perinuclear space filled with membrane remnants; these abnormal findings were also observed in cells transfected with the common delE302/303 mutation, but were not observed in cells transfected with wildtype DYT1. The presence of the mutation in the unaffected mother was consistent with incomplete penetrance, which has been observed in DYT1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18477710" 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>Modifier Alleles</em></strong></p><p>
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Although a GAG deletion in the DYT1 gene (<a href="/entry/605204#0001">605204.0001</a>) is the major cause of early-onset dystonia, expression as clinical disease occurs in only 30% of mutation carriers. To gain insight into genetic factors that may influence penetrance, <a href="#53" class="mim-tip-reference" title="Risch, N. J., Bressman, S. B., Senthil, G., Ozelius, L. J. <strong>Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia.</strong> Am. J. Hum. Genet. 80: 1188-1193, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17503336/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17503336</a>] [<a href="https://doi.org/10.1086/518427" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17503336">Risch et al. (2007)</a> evaluated 3 DYT1 SNPs including D216H (<a href="/entry/605204#0003">605204.0003</a>), a coding-sequence variation that moderates the effects of the DYT1 GAG deletion in cellular models. The D216H polymorphism encodes aspartic acid (D) in 88% and histidine (H) in 12% of control-population alleles (<a href="#46" class="mim-tip-reference" title="Ozelius, L. J., Hewett, J. W., Page, C. E., Bressman, S. B., Kramer, P. L., Shalish, C., de Leon, D., Brin, M. F., Raymond, D., Corey, D. P., Fahn, S., Risch, N. J., Buckler, A. J., Gusella, J. F., Breakefield, X. O. <strong>The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein.</strong> Nature Genet. 17: 40-48, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9288096/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9288096</a>] [<a href="https://doi.org/10.1038/ng0997-40" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9288096">Ozelius et al., 1997</a>: <a href="#37" class="mim-tip-reference" title="Leung, J. C., Klein, C., Friedman, J., Vieregge, P., Jacobs, H., Doheny, D., Kamm, C., DeLeon, D., Pramstaller, P. P., Penney, J. B., Eisengart, M., Jankovic, J., Gasser, T., Bressman, S. B., Corey, D. P., Kramer, P., Brin, M. F., Ozelius, L. J., Breakefield, X. O. <strong>Novel mutation in the TOR1A (DYT1) gene in atypical, early onset dystonia and polymorphisms in dystonia and early onset parkinsonism.</strong> Neurogenetics 3: 133-143, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11523564/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11523564</a>] [<a href="https://doi.org/10.1007/s100480100111" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11523564">Leung et al., 2001</a>). <a href="#53" class="mim-tip-reference" title="Risch, N. J., Bressman, S. B., Senthil, G., Ozelius, L. J. <strong>Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia.</strong> Am. J. Hum. Genet. 80: 1188-1193, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17503336/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17503336</a>] [<a href="https://doi.org/10.1086/518427" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17503336">Risch et al. (2007)</a> tested 119 DYT1 GAG-deletion carriers with clinical signs of dystonia and 113 mutation carriers without signs of dystonia as well as 197 control individuals; they found a frequency of the his216 allele to be increased in GAG-deletion carriers without dystonia and to be decreased in carriers with dystonia, compared with the control individuals. Analysis of haplotypes demonstrated a highly protective effect of the H allele in trans with the GAG deletion; there was also suggestive evidence that the asp216 allele in cis is required for the disease to be penetrant. The findings established, for the first time, a clinically relevant gene modifier of DYT1. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11523564+9288096+17503336" 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="#28" class="mim-tip-reference" title="Kamm, C., Fischer, H., Garavaglia, B., Kullmann, S., Sharma, M., Schrader, C., Grundmann, K., Klein, C., Borggrafe, I., Lobsien, E., Kupsch, A., Nardocci, N., Gasser, T. <strong>Susceptibility to DYT1 dystonia in European patients is modified by the D216H polymorphism.</strong> Neurology 70: 2261-2262, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18519876/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18519876</a>] [<a href="https://doi.org/10.1212/01.wnl.0000313838.05734.8a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18519876">Kamm et al. (2008)</a> found that none of 42 symptomatic patients from 35 European families with dystonia carried the D216H variant, whereas 6 (12.5%) of 48 chromosomes from 24 asymptomatic mutation carriers had the D216H SNP. The findings indicated that deletion carriers with the his216 allele have a greatly reduced risk of developing symptoms of dystonia: the disease penetrance of those with the his216 allele is about 3% compared to about 35% in deletion carriers with the asp216 allele. The authors noted that although the his216 allele is generally rare, with a maximum frequency of 19% in Europeans, it should be included in molecular genetic testing for the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18519876" 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>Associations Pending Confirmation</em></strong></p><p>
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For discussion of a possible association between primary cervical focal dystonia and variation in the DRD5 gene, see <a href="/entry/126453#0001">126453.0001</a>.</p>
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<p>Among 147 DYT1 deletion (<a href="/entry/605204#0001">605204.0001</a>) carriers and 113 blood-related noncarriers from 43 families, <a href="#7" class="mim-tip-reference" title="Bressman, S. B., Raymond, D., Wendt, K., Saunders-Pullman, R., de Leon, D., Fahn, S., Ozelius, L., Risch, N. <strong>Diagnostic criteria for dystonia in DYT1 families.</strong> Neurology 59: 1780-1782, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12473770/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12473770</a>] [<a href="https://doi.org/10.1212/01.wnl.0000035630.12515.e0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12473770">Bressman et al. (2002)</a> assessed the validity of the diagnostic categories of 'definite,' 'probable,' and 'possible' dystonia often used in genetic research studies. The category of 'definite' dystonia, defined as characteristic overt twisting or directional movements and postures that are consistently present, was 100% specific: all patients classified as 'definite' carried the deletion mutation. 'Probable' dystonia was significantly increased in carriers compared with noncarriers, and 'possible' dystonia was not significantly different. <a href="#7" class="mim-tip-reference" title="Bressman, S. B., Raymond, D., Wendt, K., Saunders-Pullman, R., de Leon, D., Fahn, S., Ozelius, L., Risch, N. <strong>Diagnostic criteria for dystonia in DYT1 families.</strong> Neurology 59: 1780-1782, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12473770/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12473770</a>] [<a href="https://doi.org/10.1212/01.wnl.0000035630.12515.e0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12473770">Bressman et al. (2002)</a> recommended that only patients with definite signs of dystonia be considered affected in linkage and other genetic studies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12473770" 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="#65" class="mim-tip-reference" title="Zilber, N., Korczyn, A. D., Kahana, E., Fried, K., Alter, M. <strong>Inheritance of idiopathic torsion dystonia among Jews.</strong> J. Med. Genet. 21: 13-20, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6694180/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6694180</a>] [<a href="https://doi.org/10.1136/jmg.21.1.13" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6694180">Zilber et al. (1984)</a> found that the frequency of the disease in European Jews was about 1:23,000 live births or about 5 times greater than in Jews of Afro-Asian origin. Risch et al. (<a href="#49" class="mim-tip-reference" title="Risch, N., Bressman, S. B., deLeon, D., Brin, M. F., Burke, R. E., Greene, P. E., Shale, H., Claus, E. B., Cupples, L. A., Fahn, S. <strong>Autosomal dominant inheritance of idiopathic torsion dystonia in Ashkenazi Jews. (Abstract)</strong> Am. J. Hum. Genet. 45 (suppl.): A60, 1989."None>1989</a>, <a href="#52" class="mim-tip-reference" title="Risch, N. J., Bressman, S. B., deLeon, D., Brin, M. F., Burke, R. E., Greene, P. E., Shale, H., Claus, E. B., Cupples, L. A., Fahn, S. <strong>Segregation analysis of idiopathic torsion dystonia in Ashkenazi Jews suggests autosomal dominant inheritance.</strong> Am. J. Hum. Genet. 46: 533-538, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2309703/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2309703</a>]" pmid="2309703">1990</a>) reported a high incidence of the disease among Ashkenazi Jews. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2309703+6694180" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 52 unrelated, affected Ashkenazi Jewish persons, <a href="#47" class="mim-tip-reference" title="Ozelius, L. J., Kramer, P. L., de Leon, D., Risch, N., Bressman, S. B., Schuback, D. E., Brin, M. F., Kwiatkowski, D. J., Burke, R. E., Gusella, J. F., Fahn, S., Breakefield, X. O. <strong>Strong allelic association between the torsion dystonia gene (DYT1) and loci on chromosome 9q34 in Ashkenazi Jews.</strong> Am. J. Hum. Genet. 50: 619-628, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1347197/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1347197</a>]" pmid="1347197">Ozelius et al. (1992)</a> found highly significant linkage disequilibrium between a particular extended haplotype at the ABL-ASS loci and the DYT1 gene. Most affected individuals were heterozygous for the particular haplotype, a finding supporting autosomal dominant inheritance of the DYT1 gene. Of the 53 definitely affected individuals typed, 13 appeared to be sporadic, with no family history of dystonia. <a href="#47" class="mim-tip-reference" title="Ozelius, L. J., Kramer, P. L., de Leon, D., Risch, N., Bressman, S. B., Schuback, D. E., Brin, M. F., Kwiatkowski, D. J., Burke, R. E., Gusella, J. F., Fahn, S., Breakefield, X. O. <strong>Strong allelic association between the torsion dystonia gene (DYT1) and loci on chromosome 9q34 in Ashkenazi Jews.</strong> Am. J. Hum. Genet. 50: 619-628, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1347197/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1347197</a>]" pmid="1347197">Ozelius et al. (1992)</a> concluded that many sporadic cases are in fact hereditary, that the disease gene frequency is greater than 1 in 15,000, and that the penetrance is lower than 30% (the previously estimated value for this population). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1347197" 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="#50" class="mim-tip-reference" title="Risch, N., de Leon, D., Ozelius, L., Kramer, P., Almasy, L., Singer, B., Fahn, S., Breakefield, X., Bressman, S. <strong>Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population.</strong> Nature Genet. 9: 152-159, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7719342/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7719342</a>] [<a href="https://doi.org/10.1038/ng0295-152" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7719342">Risch et al. (1995)</a> examined data on 6 closely linked microsatellite loci on 9q34 from 59 Ashkenazi Jewish families with idiopathic torsion dystonia. The data indicated that more than 90% of early-onset cases in the Ashkenazi population are due to a single founder mutation, which the authors estimated first appeared approximately 350 years ago. They showed that carriers preferentially originated from the northern part of the historic Jewish Pale, Lithuania and Byelorussia. The recent origin of this dominant mutation and its current high frequency, between 1 in 6,000 and 1 in 2,000, suggested that the Ashkenazi population descended from a limited number of founders and emphasized the importance of genetic drift in determining disease allele frequencies in this population. <a href="#67" class="mim-tip-reference" title="Zoossmann-Diskin, A. <strong>ITD in Ashkenazi Jews: genetic drift or selection? (Letter)</strong> Nature Genet. 11: 13-14, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7550306/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7550306</a>] [<a href="https://doi.org/10.1038/ng0995-13" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7550306">Zoossmann-Diskin (1995)</a> challenged the significance of genetic drift in determining the high frequency of the DYT1 gene in Ashkenazim. He questioned the accuracy of the small population numbers before 1600 and the rapid expansion thereafter and favored heterozygote advantage as the explanation for the high gene frequency. In a long reply, <a href="#51" class="mim-tip-reference" title="Risch, N., DeLeon, D., Fahn, S., Bressman, S., Ozelius, L., Breakefield, X., Kramer, P., Almasy, L., Singer, B. <strong>Reply to Zoossmann-Diskin. (Letter)</strong> Nature Genet. 11: 14-15, 1995."None>Risch et al. (1995)</a> defended the population statistics and cited a number of reasons that the claim of heterozygote advantage for this dominant disorder is untenable. They suggested that genetic drift provides a general explanation for the high frequency of at least a dozen genetic diseases that occur at high frequency uniquely to the Ashkenazi population. None of these mutations is common among the non-Jews living in proximity to the Jews. Founder effect of recent mutations in a rapidly expanding population from a limited number of founders offers a simple, parsimonious solution, in their view. <a href="#41" class="mim-tip-reference" title="Motulsky, A. G. <strong>Jewish diseases and origins.</strong> Nature Genet. 9: 99-101, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7719352/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7719352</a>] [<a href="https://doi.org/10.1038/ng0295-99" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7719352">Motulsky (1995)</a> gave a useful review of 10 'Ashkenazi Jewish diseases,' including torsion dystonia. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7550306+7719352+7719342" 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="#55" class="mim-tip-reference" title="Valente, E. M., Povey, S., Warner, T. T., Wood, N. W., Davis, M. B. <strong>Detailed haplotype analysis in Ashkenazi Jewish and non-Jewish British dystonic patients carrying the GAG deletion in the DYT1 gene: evidence for a limited number of founder mutations.</strong> Ann. Hum. Genet. 63: 1-8, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10738516/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10738516</a>] [<a href="https://doi.org/10.1046/j.1469-1809.1999.6310001.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10738516">Valente et al. (1999)</a> analyzed the haplotypes surrounding the DYT1 gene in 9 Ashkenazi Jewish and 15 non-Jewish British patients carrying the GAG deletion. They found that all Ashkenazi-Jewish British patients carried the same haplotype as the North American Jews, sustaining the theory that the current British Ashkenazi community descends from the same small group of individuals as the North American Jewry. Furthermore, in the non-Jewish British patients, only a limited number of distinct founder mutations were observed. This supported the hypothesis that the GAG deletion in the DYT1 gene (<a href="/entry/605204#0001">605204.0001</a>) is not a very frequent mutation, and that it has arisen only a limited number of times throughout the centuries. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10738516" 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="#25" class="mim-tip-reference" title="Ikeuchi, T., Shimohata, T., Nakano, R., Koide, R., Takano, H., Tsuji, S. <strong>A case of primary torsion dystonia in Japan with the 3-bp (GAG) deletion in the DYT1 gene with a unique clinical presentation. (Letter)</strong> Neurogenetics 2: 189-190, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10541594/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10541594</a>] [<a href="https://doi.org/10.1007/s100480050082" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10541594">Ikeuchi et al. (1999)</a> noted that <a href="#60" class="mim-tip-reference" title="Yanagisawa, N., Goto, A., Narabayashi, H. <strong>Familial dystonia musculorum deformans and tremor.</strong> J. Neurol. Sci. 16: 125-136, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5037440/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5037440</a>] [<a href="https://doi.org/10.1016/0022-510x(72)90082-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5037440">Yanagisawa et al. (1972)</a> had described families with the clinical diagnosis of dystonia musculorum deformans. Because of the high frequency in Japanese of hereditary progressive dystonia with marked diurnal fluctuations (<a href="/entry/128230">128230</a>), which has symptoms similar to those of primary torsion dystonia, <a href="#25" class="mim-tip-reference" title="Ikeuchi, T., Shimohata, T., Nakano, R., Koide, R., Takano, H., Tsuji, S. <strong>A case of primary torsion dystonia in Japan with the 3-bp (GAG) deletion in the DYT1 gene with a unique clinical presentation. (Letter)</strong> Neurogenetics 2: 189-190, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10541594/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10541594</a>] [<a href="https://doi.org/10.1007/s100480050082" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10541594">Ikeuchi et al. (1999)</a> concluded that it is important to document the GAG deletion in the DYT1 gene (<a href="/entry/605204#0001">605204.0001</a>) in the Japanese population. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5037440+10541594" 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="#23" class="mim-tip-reference" title="Hjermind, L. E., Werdelin, L. M., Sorensen, S. A. <strong>Inherited and de novo mutations in sporadic cases of DYT1-dystonia.</strong> Europ. J. Hum. Genet. 10: 213-216, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11973627/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11973627</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200782" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11973627">Hjermind et al. (2002)</a> examined 107 unrelated Danish probands with primary torsion dystonia. The clinical examinations showed that 22 probands had generalized dystonia (20 of whom had early limb-onset), 2 had hemidystonia, 5 had multifocal dystonia, 15 had segmental dystonia, and 63 had focal dystonia. Among the 107 probands investigated, the GAG deletion (<a href="/entry/605204#0001">605204.0001</a>) in the DYT1 gene was detected in 3 (2.8%). This corresponded to 15% of the 20 probands with early limb-onset generalized dystonia. Of the 3 probands with the GAG deletion, only 1 had familial dystonia, with the mutation detected in the affected father and in 6 asymptomatic adult relatives. In the second proband the DYT1 mutation was also encountered in the asymptomatic mother, while in the third case none of the parents had the GAG deletion and therefore represented a de novo mutation. <a href="#23" class="mim-tip-reference" title="Hjermind, L. E., Werdelin, L. M., Sorensen, S. A. <strong>Inherited and de novo mutations in sporadic cases of DYT1-dystonia.</strong> Europ. J. Hum. Genet. 10: 213-216, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11973627/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11973627</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200782" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11973627">Hjermind et al. (2002)</a> pointed out that the difficulties in genetic counseling concerning dystonia are due to the low penetrance of many of the hereditary forms of dystonia, the variable phenotype within the same type of dystonia, and the occurrence of de novo DYT1 mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11973627" 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="#18" class="mim-tip-reference" title="Frederic, M. Y., Clot, F., Cif, L., Blanchard, A., Durr, A., Vuillaume, I., Lesca, G., Kreisler, A., Davin, C., Besnard, T., Rousset, F., Thorel, D., and 22 others. <strong>Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France?</strong> Neurogenetics 9: 143-150, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18322712/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18322712</a>] [<a href="https://doi.org/10.1007/s10048-008-0123-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18322712">Frederic et al. (2008)</a> found that DYT1 was rare in France, with an estimated disease frequency of 0.13 in 100,000 and an estimated mutation frequency of 0.17 in 100,000. Eleven (20.7%) of 53 families carried the Ashkenazi Jewish haplotype, suggesting that independent mutational events occurred in the other families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18322712" 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="#54" class="mim-tip-reference" title="Shashidharan, P., Sandu, D., Potla, U., Armata, I. A., Walker, R. H., McNaught, K. S., Weisz, D., Sreenath, T., Brin, M. F., Olanow, C. W. <strong>Transgenic mouse model of early-onset DYT1 dystonia.</strong> Hum. Molec. Genet. 14: 125-133, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15548549/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15548549</a>] [<a href="https://doi.org/10.1093/hmg/ddi012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15548549">Shashidharan et al. (2005)</a> generated 4 independent lines of transgenic mice by overexpressing human delE-torsin-A using a neuron-specific enolase promoter. Approximately 40% of the transgenic mice developed abnormal involuntary movements with dystonic-appearing self-clasping of limbs, hyperkinesia, and rapid bidirectional circling. Neurochemical analyses revealed decreased striatal dopamine in affected transgenic mice, and immunohistochemical studies demonstrated perinuclear inclusions and aggregates that stained positively for ubiquitin (UBB; <a href="/entry/191339">191339</a>), torsin-A, and lamin (LMNA; <a href="/entry/150330">150330</a>). Inclusions were detected in neurons of the pedunculopontine nucleus and in other brain stem regions in a pattern similar to that described in DYT1 patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15548549" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Eldridge1970" class="mim-tip-reference" title="Eldridge, R. <strong>The torsion dystonias: literature review and genetic and clinical studies.</strong> Neurology 20: 1-78, 1970.">Eldridge (1970)</a>; <a href="#Eldridge1981" class="mim-tip-reference" title="Eldridge, R. <strong>Inheritance of torsion dystonia in Jews. (Letter)</strong> Ann. Neurol. 10: 203-205, 1981.">Eldridge (1981)</a>; <a href="#Kamm1999" class="mim-tip-reference" title="Kamm, C., Castelon-Konkiewitz, E., Naumann, M., Heinen, F., Brack, M., Nebe, A., Ceballos-Baumann, A., Gasser, T. <strong>GAG deletion in the DYT1 gene in early limb-onset idiopathic torsion dystonia in Germany.</strong> Mov. Disord. 14: 681-683, 1999.">Kamm et al. (1999)</a>; <a href="#Wachtel1982" class="mim-tip-reference" title="Wachtel, R. C., Batshaw, M. L., Eldridge, R., Jankel, W., Cataldo, M. <strong>Torsion dystonia.</strong> Johns Hopkins Med. J. 151: 355-361, 1982.">Wachtel et al.
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(1982)</a>; <a href="#Zeman1967" class="mim-tip-reference" title="Zeman, W., Dyken, P. <strong>Dystonia musculorum deformans: clinical, genetic and pathoanatomical studies.</strong> Psychiat. Neurol. Neurochir. 70: 77-121, 1967.">Zeman and Dyken (1967)</a>
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<strong>Decreased striatal D2 receptor binding in non-manifesting carriers of the DYT1 dystonia mutation.</strong>
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Neurology 64: 347-349, 2005. Note: Erratum: Neurology 37: 140 only, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15668438/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15668438</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15668438" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Askenasy, J. J., Oberman, T. J., Herzberg, M., Carasso, R., Streifler, M.
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[<a href="https://doi.org/10.1002/mds.870110208" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ana.10610" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archneur.60.9.1266" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/01.wnl.0000137113.39225.fa" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1056/NEJM198608073150602" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/s100480050082" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archneur.1962.04210040053005" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/1531-8257(199907)14:4<681::aid-mds1020>3.0.co;2-m" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/01.wnl.0000313838.05734.8a" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/j.jns.2006.07.010" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ana.410270203" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/gepi.1370040506" target="_blank">Full Text</a>]
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<strong>Detailed haplotype analysis in Ashkenazi Jewish and non-Jewish British dystonic patients carrying the GAG deletion in the DYT1 gene: evidence for a limited number of founder mutations.</strong>
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[<a href="https://doi.org/10.1046/j.1469-1809.1999.6310001.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/brain/116.3.739" target="_blank">Full Text</a>]
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Wechsler, I. S., Brock, S.
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<strong>Dystonia musculorum deformans with especial reference to a myostatic form and the occurrence of decerebrate rigidity phenomena. A study of six cases.</strong>
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<a id="Wooten1973" class="mim-anchor"></a>
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Wooten, F. G., Eldridge, R., Axelrod, J., Stern, R. S.
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<strong>Elevated plasma dopamine-beta-hydroxylase activity in autosomal dominant torsion dystonia.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4682668/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4682668</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4682668" 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/NEJM197302082880604" target="_blank">Full Text</a>]
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Yanagisawa, N., Goto, A., Narabayashi, H.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5037440/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5037440</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5037440" 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/10.1016/0022-510x(72)90082-2" target="_blank">Full Text</a>]
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Zeman, W., Dyken, P.
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Psychiat. Neurol. Neurochir. 70: 77-121, 1967.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6050693/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6050693</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6050693" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Zeman, W., Kaelbling, R., Pasamanick, B.
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Zeman, W., Kaelbling, R., Pasamanick, B.
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<strong>Idiopathic dystonia musculorum deformans.</strong>
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[<a href="https://doi.org/10.1212/wnl.10.12.1068" target="_blank">Full Text</a>]
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Ziegler, M. G., Lake, C. R., Eldridge, R., Kopin, I. J.
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<strong>Plasma norepinephrine and dopamine-beta-hydroxylase in dystonia.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/941776/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">941776</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=941776" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Zilber, N., Korczyn, A. D., Kahana, E., Fried, K., Alter, M.
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<strong>Inheritance of idiopathic torsion dystonia among Jews.</strong>
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J. Med. Genet. 21: 13-20, 1984.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6694180/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6694180</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6694180" 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/10.1136/jmg.21.1.13" target="_blank">Full Text</a>]
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Zirn, B., Grundmann, K., Huppke, P., Puthenparampil, J., Wolburg, H., Riess, O., Muller, U.
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<strong>Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1).</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18477710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18477710</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18477710" 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/10.1136/jnnp.2008.148270" target="_blank">Full Text</a>]
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Zoossmann-Diskin, A.
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<strong>ITD in Ashkenazi Jews: genetic drift or selection? (Letter)</strong>
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Nature Genet. 11: 13-14, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7550306/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7550306</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7550306" 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/10.1038/ng0995-13" target="_blank">Full Text</a>]
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 1/5/2015
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Cassandra L. Kniffin - updated : 12/21/2010<br>Cassandra L. Kniffin - updated : 12/15/2009<br>Cassandra L. Kniffin - updated : 1/14/2009<br>Cassandra L. Kniffin - updated : 9/29/2008<br>Cassandra L. Kniffin - updated : 5/16/2008<br>George E. Tiller - updated : 10/31/2007<br>Cassandra L. Kniffin - updated : 8/26/2005<br>Cassandra L. Kniffin - updated : 6/9/2005<br>Cassandra L. Kniffin - updated : 2/24/2005<br>Victor A. McKusick - updated : 1/4/2005<br>Cassandra L. Kniffin - updated : 12/20/2004<br>Cassandra L. Kniffin - updated : 1/21/2004<br>Cassandra L. Kniffin - updated : 8/14/2003<br>Cassandra L. Kniffin - updated : 1/22/2003<br>Michael B. Petersen - updated : 11/1/2002<br>Cassandra L. Kniffin - updated : 8/22/2002<br>Cassandra L. Kniffin - reorganized : 8/22/2002<br>Victor A. McKusick - updated : 12/16/1999<br>Victor A. McKusick - updated : 11/1/1999<br>Orest Hurko - updated : 9/24/1998<br>Victor A. McKusick - updated : 5/19/1998<br>Victor A. McKusick - updated : 5/5/1998<br>Victor A. McKusick - updated : 8/28/1997<br>Victor A. McKusick - updated : 6/23/1997<br>Orest Hurko - updated : 11/24/1996<br>Orest Hurko - updated : 5/8/1996<br>Orest Hurko - updated : 9/21/1995
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Victor A. McKusick : 6/4/1986
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carol : 05/18/2018<br>ckniffin : 05/17/2018<br>carol : 08/09/2016<br>carol : 07/18/2016<br>carol : 7/15/2016<br>carol : 1/15/2015<br>mcolton : 1/7/2015<br>ckniffin : 1/5/2015<br>carol : 9/4/2014<br>carol : 9/2/2014<br>tpirozzi : 10/1/2013<br>terry : 4/4/2013<br>carol : 12/4/2012<br>joanna : 12/4/2012<br>ckniffin : 4/24/2012<br>wwang : 12/29/2010<br>ckniffin : 12/21/2010<br>terry : 9/8/2010<br>carol : 12/23/2009<br>ckniffin : 12/15/2009<br>wwang : 5/11/2009<br>ckniffin : 5/1/2009<br>carol : 4/20/2009<br>wwang : 1/22/2009<br>ckniffin : 1/14/2009<br>wwang : 10/6/2008<br>ckniffin : 9/29/2008<br>wwang : 5/20/2008<br>ckniffin : 5/16/2008<br>alopez : 2/19/2008<br>alopez : 2/19/2008<br>alopez : 11/6/2007<br>terry : 10/31/2007<br>carol : 10/23/2006<br>carol : 10/23/2006<br>carol : 10/6/2005<br>wwang : 9/2/2005<br>ckniffin : 8/26/2005<br>wwang : 6/21/2005<br>wwang : 6/15/2005<br>ckniffin : 6/9/2005<br>wwang : 2/25/2005<br>ckniffin : 2/24/2005<br>terry : 2/22/2005<br>ckniffin : 2/14/2005<br>wwang : 1/7/2005<br>wwang : 1/7/2005<br>terry : 1/4/2005<br>tkritzer : 12/28/2004<br>ckniffin : 12/20/2004<br>tkritzer : 1/23/2004<br>ckniffin : 1/21/2004<br>cwells : 8/19/2003<br>ckniffin : 8/14/2003<br>carol : 1/31/2003<br>ckniffin : 1/22/2003<br>cwells : 11/1/2002<br>carol : 8/22/2002<br>carol : 8/22/2002<br>ckniffin : 8/22/2002<br>carol : 10/25/2000<br>alopez : 8/8/2000<br>alopez : 8/8/2000<br>carol : 1/28/2000<br>mgross : 1/10/2000<br>terry : 12/16/1999<br>carol : 11/10/1999<br>terry : 11/1/1999<br>carol : 5/26/1999<br>terry : 4/30/1999<br>carol : 12/3/1998<br>carol : 9/24/1998<br>terry : 5/19/1998<br>carol : 5/16/1998<br>terry : 5/5/1998<br>jenny : 9/3/1997<br>terry : 9/2/1997<br>jenny : 9/1/1997<br>terry : 8/28/1997<br>terry : 6/23/1997<br>terry : 6/19/1997<br>mark : 11/24/1996<br>terry : 10/22/1996<br>mark : 5/8/1996<br>terry : 5/3/1996<br>mark : 8/31/1995<br>carol : 2/13/1995<br>jason : 7/19/1994<br>mimadm : 6/25/1994<br>pfoster : 3/24/1994
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<span class="mim-font">
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<strong>#</strong> 128100
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<h3>
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DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT; DYT1
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<em>Alternative titles; symbols</em>
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DYSTONIA MUSCULORUM DEFORMANS 1<br />
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EARLY-ONSET TORSION DYSTONIA; EOTD
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<strong>ORPHA:</strong> 256;
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<strong>DO:</strong> 0060730;
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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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<span class="mim-font">
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9q34.11
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<span class="mim-font">
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Dystonia-1, torsion
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128100
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<span class="mim-font">
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Autosomal dominant
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<span class="mim-font">
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3
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TOR1A
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605204
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that torsion dystonia-1 (DYT1) is caused by heterozygous mutation in the TOR1A gene (605204), encoding the ATP-binding protein torsin-A, on chromosome 9q34.</p>
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<strong>Description</strong>
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<p>'Dystonia' describes a neurologic condition characterized by involuntary, sustained muscle contractions affecting one or more sites of the body; 'torsion' refers to the twisting nature of body movements observed in dystonia. Dystonia has been classified as primary (dystonia as the sole or major symptom) or secondary (a symptom of another disorder), and by age of onset, muscle groups affected, and mode of inheritance (Muller and Kupke, 1990; Nemeth, 2002). </p>
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<strong>Clinical Features</strong>
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<p>Primary torsion dystonia (also known as 'idiopathic' torsion dystonia; ITD) usually begins in childhood or adolescence with involuntary posturing of the trunk, neck, or limbs (Marsden et al., 1976; Nemeth, 2002). Some patients have a myostatic picture, such as was described by Wechsler and Brock (1922). Johnson et al. (1962) described an extensively affected French-Canadian family. Age of onset of affected family members ranged from 6 to 42 years and severity of the disease varied considerably, with early-onset cases being severely affected. Minor manifestations interpreted as 'formes frustes' were found in some family members. In a large North American family of non-Jewish ancestry, Brin et al. (1989) found that age of onset ranged from 4 to 43 years (mean 14.4, median 10.0). Generalization occurred within a median time of 3 years and occurred earlier in cases with onset in the leg. One 6.5-year-old was unable to walk within 3 months of onset. Batshaw et al. (1985) described a patient with severe simulated torsion dystonia as the main feature of Munchausen syndrome. </p><p>Bressman et al. (1994) analyzed the haplotype of 174 Ashkenazi Jewish individuals affected with torsion dystonia. In this group, there were 90 carriers of the haplotype and 70 noncarriers. The authors found very striking differences in the phenotype between carriers and noncarriers. The age of onset in carriers was 12.5 years versus 36.5 years in the noncarriers. In 94% of carriers, symptoms began in a limb but only rarely in the neck and larynx. In contrast, the neck, larynx, or other cranial muscles were the site of onset in 79% of noncarriers. Discriminant analysis of limb onset, leg involvement, and age at onset distinguished haplotype carriers from noncarriers with 90% accuracy. In 23 of the 70 noncarriers, the disease was familial and included brachial, cervical, laryngeal, and facial dystonia. </p><p>Cheng et al. (1996) studied 49 probands with cervical or cranial dystonia with age of onset greater than 12 years and with a positive family history. They found that age of onset of clinical symptoms was earlier by an average of 21.25 years in the second generation than in the first, and suggested that an unstable trinucleotide repeat may be involved in adult-onset primary cranial or cervical dystonia. </p><p>Grundmann et al. (2003) stated that most cases of early-onset generalized dystonia are caused by a 3-bp deletion in the DYT1 gene (delE302/303; 605204.0001). They reported 6 patients with dystonia caused by the 3-bp deletion who exhibited wide phenotypic variability: 2 had classic early-onset primary generalized dystonia, 2 had multifocal dystonia (1 with cranial and cervical muscle involvement), and 2 had only writer's cramp with mild progression. </p><p>Kostic et al. (2006) reported a large Serbian family in which 7 members carried the delE302/303 DYT1 mutation (605204.0001). However, only 2 were affected by dystonia, indicating a penetrance of 29%. One of the affected individuals had late-onset mild torticollis, and the other had generalized jerky dystonia. In addition, 3 family members with dystonia did not carry the DYT1 mutation, indicating genetic heterogeneity or possibly a psychogenic origin. Kostic et al. (2006) commented on the phenotypic variability in this family. </p><p>Zirn et al. (2008) reported an 18-year-old girl with a severe form of early-onset dystonia. She had mildly delayed early motor development with stalling of further development during the second year of life. She never learned to walk independently and became wheelchair-bound at age 5 years. At age 13, she could no longer eat or drink without assistance. At age 18, she had dysphagia, severe dysarthria, facial palsy with reduced tongue mobility, dystonic movements, multiple joint contractures, increased muscle tone, hyperreflexia, and extensor plantar responses. Cognition was normal. </p><p><strong><em>Neuroradiologic Studies</em></strong></p><p>
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In 12 nonmanifesting carriers of a DYT1 mutation (605204.0001), Ghilardi et al. (2003) found decreased learning of new motor sequence tasks, compared to controls. PET scans during the tasks showed some areas of brain overactivity in the carriers, including in the premotor and supplemental motor cortices. The authors concluded that clinically unaffected DYT1 mutation carriers exhibit mild abnormalities in motor behavior and brain functioning, suggesting an innate compensation for mild striatal dysfunction. </p><p>Using diffusion tensor magnetic resonance imaging (DTI) to assess axonal integrity and coherence in the brain, Carbon et al. (2004) found that 4 clinically affected DYT1 patients and 8 nonmanifesting DYT1 carriers had microstructural disturbances of the white matter pathways that carry afferents and efferents to the primary sensorimotor cortex compared to controls. The changes were more severe in the clinically affected patients. </p><p>Using PET scans, Carbon et al. (2004) found that manifesting gene carriers of DYT1 and DYT6 (602629) had bilateral hypermetabolism in the presupplementary motor area and parietal association cortices compared to their respective nonmanifesting gene carriers. DYT1 carriers as a whole showed increased metabolism in the inferior cerebellum and putamen, with decreases in the anterior cingulate. In contrast, DYT6 carriers as a whole showed hypometabolism in the putamen and hypermetabolism in the temporal cortex. Carbon et al. (2004) concluded that dystonia in general is a disease of 'movement preparation' driven by a disruption of sensorimotor integration, but that unique metabolic abnormalities, particularly in subcortical structures, may represent genotype-specific differences. </p><p>Using PET scans and radiolabeled raclopride, Asanuma et al. (2005) found that 9 nonmanifesting carriers of DYT1 mutations had significantly reduced striatal D2 receptor (DRD2; 126450)-binding compared to 13 control individuals. DYT1 carriers had a reduction in D2 binding in the caudate and ventral putamen. Although Asanuma et al. (2005) were not able to distinguish between D2 receptor loss and increased dopamine turnover, the findings implicated abnormal dopaminergic transmission in the pathogenesis of primary dystonia. </p><p>Using PET scans and radiolabeled raclopride, Carbon et al. (2009) found significant reductions in caudate and putamen DRD2 availability in 21 individuals with DYT1, including 12 nonmanifesting and 9 manifesting carriers, and 12 individuals with DYT6, including 4 nonmanifesting and 8 manifesting carriers, compared to 13 controls. There was no significant difference between manifesting and nonmanifesting mutation carriers within either group, but those with DYT6 mutations had greater reductions than those with DYT1 mutations. Voxel-based analysis using stringent thresholds showed that the lateral putamen and right ventrolateral thalamus were most affected, with DYT6 carriers again more affected than DYT1 carriers. In addition, DYT6 carriers showed significantly greater reduction in the posterior putamen than DYT1 carriers. Carbon et al. (2009) emphasized that there was no difference between manifesting and nonmanifesting mutation carriers, suggesting that alterations in dopamine neurotransmission are susceptibility factors for the development of clinical symptoms, but that there likely needs to be an additional insult for manifestation. </p><p><strong><em>Neuropathologic Features</em></strong></p><p>
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McNaught et al. (2004) found perinuclear inclusion bodies in cholinergic neurons of the midbrain reticular formation, particularly in the pedunculopontine nuclei (PPN), and periaqueductal gray matter in 4 clinically affected patients with genetically confirmed DYT1. The inclusions stained positively for ubiquitin (191339), torsin-A, and lamin A/C (LMNA; 150330). No inclusion bodies were identified in the substantia nigra, striatum, hippocampus, or selected regions of the cerebral cortex. McNaught et al. (2004) concluded that DYT1 dystonia is associated with impaired protein handling and possible disruption of the nuclear envelope, and that alterations in the brainstem may underlie the motor abnormalities in DYT1. </p><p><strong><em>Clinical Variability</em></strong></p><p>
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Calakos et al. (2010) reported a man with late-onset focal torsion dystonia of the oromandibular region occurring in the fifth decade that was associated with a heterozygous mutation (F205I; 605204.0004) in the TOR1A gene. The dystonia was characterized by involuntary jaw movements and grimacing. Neurologic examination showed cogwheel tone without rigidity and mild action tremor in the upper limbs, as well as absent ankle reflexes. He had a history of bipolar disorder, treated with lithium, and remote history of treatment with a dopamine receptor blocking agent. There was a family history of tremor and depression, but no family history of dystonia. In vitro functional expression studies in cultured cells showed that the F205I-mutant protein produced TOR1A inclusion bodies that colocalized with the endoplasmic reticulum in about 44% of cells, suggesting impaired function. </p>
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<strong>Other Features</strong>
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<p>Heiman et al. (2004) administered a standard psychiatric interview to 96 manifesting carriers of the DYT1 deletion mutation (605204.0001), 60 nonmanifesting carriers of the mutation, and 65 noncarriers. The risk for early-onset (before 30 years) recurrent major depression (see 608516) was increased in both manifesting mutation carriers (relative risk of 3.62) and nonmanifesting mutation carriers (relative risk of 4.95) compared to noncarriers. The severity of dystonia in manifesting carriers was not associated with the likelihood of major depression, and mutation carriers did not have an increased risk for other affective disorders. Heiman et al. (2004) concluded that early-onset recurrent major depression is a clinical expression of the DYT1 gene mutation that is independent of dystonia. </p>
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<strong>Biochemical Features</strong>
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<p>Some groups have found elevation of plasma dopamine-beta-hydroxylase, the enzyme that converts dopamine to norepinephrine, in the dominant form of dystonia (Wooten et al., 1973; Ziegler et al., 1976; Askenasy et al., 1980). </p><p>Hornykiewicz et al. (1986) performed histologic and biochemical studies on the brains of 2 patients with a generalized childhood-onset form of dystonia. No important histologic change was found, but levels of norepinephrine and serotonin were decreased in some areas and elevated in others. The authors concluded that some of these changes may represent a basic abnormality of the disorder. They pointed to elevated norepinephrine levels found in an inherited dystonia of the Sprague-Dowley rat with no obvious neuropathologic changes (Lorden et al., 1984). In this model, the alpha-2-adrenergic receptor agonist clonidine has antidystonic effects. </p>
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<strong>Inheritance</strong>
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<p>Zeman et al. (1959, 1960) traced the disorder through 4 generations and Larsson and Sjogren (1963) traced it through 5 generations. Zilber et al. (1984) analyzed data from a nationwide survey of idiopathic torsion dystonia in Israel. Assuming that all cases fit the same genetic model, an X-linked or simple autosomal recessive model could be rejected. An autosomal dominant model with low penetrance could have accounted for the observations. Paternal age was increased (33.8 vs 30.1, p = 0.01) for isolated cases. Bundey et al. (1975) had also observed paternal age effect. </p><p>Risch et al. (1989, 1990) ascertained 43 Ashkenazi Jewish probands with idiopathic torsion dystonia with onset before age 28 years and studied all available first- and second-degree relatives. The findings were considered consistent with autosomal dominant inheritance with about 30% penetrance; recessive inheritance was strongly rejected. Risch et al. (1989, 1990) concluded that torsion dystonia in Ashkenazi Jews may be largely homogeneous. Bressman et al. (1989) studied 39 kindreds derived from 43 independently ascertained probands of Ashkenazi ancestry. The age-adjusted risk for all first-degree relatives was 15.5% and for all second-degree relatives 6.5%, with no significant sex differences; parent, offspring, and sib risks did not differ significantly. The risks were consistent with autosomal dominant inheritance with a penetrance estimated at 29.4% using definite cases only, and 32.2% using definite and probable cases. Assuming a disease frequency of 1 in 15,000, the gene frequency was estimated to be 1 in 9,000. Penetrance in this disorder is usually low (approximately 30%), but varies considerably between families; the particularly large French-Canadian family first described by Johnson et al. (1962) showed a penetrance greater than 90%. </p><p>Muller and Kupke (1990) reviewed the genetics of primary torsion dystonia and noted there are multiple forms of autosomal dominant torsion dystonia. They also listed genetic and nongenetic causes of secondary dystonia. </p>
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<strong>Heterogeneity</strong>
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<p>In 1 French and 26 British families with torsion dystonia, 3 of which were Ashkenazi Jewish, Warner et al. (1993) found that nearly half of the dystonia families may be of a variety unlinked to 9q34, supporting the existence of genetic heterogeneity. </p><p>Gasser et al. (1996) found no common haplotypes in the DYT1 region on chromosome 9q in 10 Ashkenazi Jewish patients with focal hand dystonia, indicating separate etiology for this disorder. </p><p>In a review of primary dystonias, Muller et al. (1998) indicated that at least 8 clinically distinct autosomal dominant and 2 X-linked recessive forms had been identified. In addition, pedigree analyses suggested the occurrence of an autosomal recessive variant. They tabulated the primary dystonias, numbered 1 through 12, and proposed that most of them can be distinguished by genetic criteria. </p><p>Contarino et al. (2008) reported a large consanguineous family with adult-onset primary focal dystonia from a small Dutch village on a former island. There were 8 affected and 4 possibly affected individuals, with a mean age at onset of 45.5 years. Common clinical features included cervical dystonia, blepharospasm, writer's cramp, and mild arm tremor. The symptoms overall were quite mild in all patients. Contarino et al. (2008) noted that the transmission pattern could be consistent with autosomal recessive inheritance, given the consanguinity, or with autosomal dominant inheritance with reduced penetrance, because there was an instance of father-to-son transmission. Genetic analysis excluded mutations in the TOR1A and SGCE (604149) genes, and linkage analysis excluded several DYT loci. </p>
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<strong>Mapping</strong>
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<p>In the large non-Jewish kindred studied by Kramer et al. (1987), Ozelius et al. (1989) found tight linkage with the gene encoding gelsolin (137350); maximum lod score = 3.51 at theta = 0.0 cM. Ozelius et al. (1989) concluded from multipoint linkage analysis that the DYT1 locus lies in the 9q32-q34 region between ABO and D9S26, a region that also contains the locus for dopamine-beta-hydroxylase, a possible candidate gene. In a study of 12 multiplex Ashkenazi Jewish families, Kramer et al. (1989, 1990) confirmed the assignment to 9q32-q34. Kramer et al. (1990) demonstrated close linkage with the gene encoding argininosuccinate synthetase (ASS; 603470). This suggests that the mutation causing the Ashkenazi Jewish disease is in the same gene as that causing dystonia in the non-Jewish kindred in which linkage to gelsolin was demonstrated. In a large non-Jewish family and in a group of Ashkenazi Jewish families, Kwiatkowski et al. (1991) used GT repeat polymorphisms from the 9q32-q34 region to demonstrate that the causative gene in both groups was in this region, in an 11-cM interval between AK1 (103000) and D9S10. Using (GT)n and RFLP markers from the region 9q32-q34, Ozelius et al. (1992) delineated the area containing the DYT1 gene to a 6-cM region bounded by loci AK1 and ASS. </p><p>Warner et al. (1993) determined that association observed between ABL/ASS and idiopathic torsion dystonia in Ashkenazi families in the U.S. was also present in some British Jewish kindreds. Kramer et al. (1994) studied 7 non-Jewish families of northern European and French-Canadian descent and found evidence for linkage to the DYT1 region in 5 of these families. Estimates of penetrance in the non-Jewish families ranged from 0.40 to 0.75. None of these families carried the Ashkenazi Jewish haplotype, suggesting that in these populations there was a different mutation in the DYT1 gene. </p><p>Ozelius et al. (1997) used a YAC contig spanning 600 kb of chromosome 9q34 and several new polymorphic loci to expand the linkage disequilibrium analysis of the torsion dystonia mutation in Ashkenazi Jewish families. They concluded that the most likely location of the DYT1 gene is within a 150-kb region between D9S2161 and D9S63. </p><p><strong><em>Exclusion Studies</em></strong></p><p>
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Kramer et al. (1985) used the 'candidate gene' approach to show that the proopiomelanocortin gene (POMC; 176830) is not linked to torsion dystonia in a kindred with the autosomal dominant form reported by Johnson et al. (1962). Using the same approach, Breakefield et al. (1986) excluded the POMC and glutamate decarboxylase (GAD; see 605363) genes as the site of the mutation. Kramer et al. (1987) excluded 11p, 13q, and 21q as the location of the mutation in a single non-Jewish pedigree with torsion dystonia. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Ozelius et al. (1997) identified a heterozygous 3-bp deletion in the DYT1 gene (delE302/303; 605204.0001) in all affected and obligate carrier individuals with chromosome 9-linked primary dystonia, regardless of ethnic background and surrounding haplotype. </p><p>In a man with focal torsion dystonia of the oromandibular region occurring in the fifth decade, Calakos et al. (2010) identified a heterozygous mutation (F205I; 605204.0004) in the TOR1A gene. </p><p>In an 18-year-old girl with severe early-onset torsion dystonia, Zirn et al. (2008) identified a heterozygous missense mutation in the DYT1 gene (R288Q; 605204.0005). The mutation was inherited from the patient's unaffected mother, but was not found in 500 German control individuals. Transfection of the mutation into HEK293 cells resulted in a focally enlarged perinuclear space filled with membrane remnants; these abnormal findings were also observed in cells transfected with the common delE302/303 mutation, but were not observed in cells transfected with wildtype DYT1. The presence of the mutation in the unaffected mother was consistent with incomplete penetrance, which has been observed in DYT1. </p><p><strong><em>Modifier Alleles</em></strong></p><p>
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Although a GAG deletion in the DYT1 gene (605204.0001) is the major cause of early-onset dystonia, expression as clinical disease occurs in only 30% of mutation carriers. To gain insight into genetic factors that may influence penetrance, Risch et al. (2007) evaluated 3 DYT1 SNPs including D216H (605204.0003), a coding-sequence variation that moderates the effects of the DYT1 GAG deletion in cellular models. The D216H polymorphism encodes aspartic acid (D) in 88% and histidine (H) in 12% of control-population alleles (Ozelius et al., 1997: Leung et al., 2001). Risch et al. (2007) tested 119 DYT1 GAG-deletion carriers with clinical signs of dystonia and 113 mutation carriers without signs of dystonia as well as 197 control individuals; they found a frequency of the his216 allele to be increased in GAG-deletion carriers without dystonia and to be decreased in carriers with dystonia, compared with the control individuals. Analysis of haplotypes demonstrated a highly protective effect of the H allele in trans with the GAG deletion; there was also suggestive evidence that the asp216 allele in cis is required for the disease to be penetrant. The findings established, for the first time, a clinically relevant gene modifier of DYT1. </p><p>Kamm et al. (2008) found that none of 42 symptomatic patients from 35 European families with dystonia carried the D216H variant, whereas 6 (12.5%) of 48 chromosomes from 24 asymptomatic mutation carriers had the D216H SNP. The findings indicated that deletion carriers with the his216 allele have a greatly reduced risk of developing symptoms of dystonia: the disease penetrance of those with the his216 allele is about 3% compared to about 35% in deletion carriers with the asp216 allele. The authors noted that although the his216 allele is generally rare, with a maximum frequency of 19% in Europeans, it should be included in molecular genetic testing for the disorder. </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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For discussion of a possible association between primary cervical focal dystonia and variation in the DRD5 gene, see 126453.0001.</p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Genotype/Phenotype Correlations</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Among 147 DYT1 deletion (605204.0001) carriers and 113 blood-related noncarriers from 43 families, Bressman et al. (2002) assessed the validity of the diagnostic categories of 'definite,' 'probable,' and 'possible' dystonia often used in genetic research studies. The category of 'definite' dystonia, defined as characteristic overt twisting or directional movements and postures that are consistently present, was 100% specific: all patients classified as 'definite' carried the deletion mutation. 'Probable' dystonia was significantly increased in carriers compared with noncarriers, and 'possible' dystonia was not significantly different. Bressman et al. (2002) recommended that only patients with definite signs of dystonia be considered affected in linkage and other genetic studies. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Population Genetics</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Zilber et al. (1984) found that the frequency of the disease in European Jews was about 1:23,000 live births or about 5 times greater than in Jews of Afro-Asian origin. Risch et al. (1989, 1990) reported a high incidence of the disease among Ashkenazi Jews. </p><p>In 52 unrelated, affected Ashkenazi Jewish persons, Ozelius et al. (1992) found highly significant linkage disequilibrium between a particular extended haplotype at the ABL-ASS loci and the DYT1 gene. Most affected individuals were heterozygous for the particular haplotype, a finding supporting autosomal dominant inheritance of the DYT1 gene. Of the 53 definitely affected individuals typed, 13 appeared to be sporadic, with no family history of dystonia. Ozelius et al. (1992) concluded that many sporadic cases are in fact hereditary, that the disease gene frequency is greater than 1 in 15,000, and that the penetrance is lower than 30% (the previously estimated value for this population). </p><p>Risch et al. (1995) examined data on 6 closely linked microsatellite loci on 9q34 from 59 Ashkenazi Jewish families with idiopathic torsion dystonia. The data indicated that more than 90% of early-onset cases in the Ashkenazi population are due to a single founder mutation, which the authors estimated first appeared approximately 350 years ago. They showed that carriers preferentially originated from the northern part of the historic Jewish Pale, Lithuania and Byelorussia. The recent origin of this dominant mutation and its current high frequency, between 1 in 6,000 and 1 in 2,000, suggested that the Ashkenazi population descended from a limited number of founders and emphasized the importance of genetic drift in determining disease allele frequencies in this population. Zoossmann-Diskin (1995) challenged the significance of genetic drift in determining the high frequency of the DYT1 gene in Ashkenazim. He questioned the accuracy of the small population numbers before 1600 and the rapid expansion thereafter and favored heterozygote advantage as the explanation for the high gene frequency. In a long reply, Risch et al. (1995) defended the population statistics and cited a number of reasons that the claim of heterozygote advantage for this dominant disorder is untenable. They suggested that genetic drift provides a general explanation for the high frequency of at least a dozen genetic diseases that occur at high frequency uniquely to the Ashkenazi population. None of these mutations is common among the non-Jews living in proximity to the Jews. Founder effect of recent mutations in a rapidly expanding population from a limited number of founders offers a simple, parsimonious solution, in their view. Motulsky (1995) gave a useful review of 10 'Ashkenazi Jewish diseases,' including torsion dystonia. </p><p>Valente et al. (1999) analyzed the haplotypes surrounding the DYT1 gene in 9 Ashkenazi Jewish and 15 non-Jewish British patients carrying the GAG deletion. They found that all Ashkenazi-Jewish British patients carried the same haplotype as the North American Jews, sustaining the theory that the current British Ashkenazi community descends from the same small group of individuals as the North American Jewry. Furthermore, in the non-Jewish British patients, only a limited number of distinct founder mutations were observed. This supported the hypothesis that the GAG deletion in the DYT1 gene (605204.0001) is not a very frequent mutation, and that it has arisen only a limited number of times throughout the centuries. </p><p>Ikeuchi et al. (1999) noted that Yanagisawa et al. (1972) had described families with the clinical diagnosis of dystonia musculorum deformans. Because of the high frequency in Japanese of hereditary progressive dystonia with marked diurnal fluctuations (128230), which has symptoms similar to those of primary torsion dystonia, Ikeuchi et al. (1999) concluded that it is important to document the GAG deletion in the DYT1 gene (605204.0001) in the Japanese population. </p><p>Hjermind et al. (2002) examined 107 unrelated Danish probands with primary torsion dystonia. The clinical examinations showed that 22 probands had generalized dystonia (20 of whom had early limb-onset), 2 had hemidystonia, 5 had multifocal dystonia, 15 had segmental dystonia, and 63 had focal dystonia. Among the 107 probands investigated, the GAG deletion (605204.0001) in the DYT1 gene was detected in 3 (2.8%). This corresponded to 15% of the 20 probands with early limb-onset generalized dystonia. Of the 3 probands with the GAG deletion, only 1 had familial dystonia, with the mutation detected in the affected father and in 6 asymptomatic adult relatives. In the second proband the DYT1 mutation was also encountered in the asymptomatic mother, while in the third case none of the parents had the GAG deletion and therefore represented a de novo mutation. Hjermind et al. (2002) pointed out that the difficulties in genetic counseling concerning dystonia are due to the low penetrance of many of the hereditary forms of dystonia, the variable phenotype within the same type of dystonia, and the occurrence of de novo DYT1 mutations. </p><p>Frederic et al. (2008) found that DYT1 was rare in France, with an estimated disease frequency of 0.13 in 100,000 and an estimated mutation frequency of 0.17 in 100,000. Eleven (20.7%) of 53 families carried the Ashkenazi Jewish haplotype, suggesting that independent mutational events occurred in the other families. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Shashidharan et al. (2005) generated 4 independent lines of transgenic mice by overexpressing human delE-torsin-A using a neuron-specific enolase promoter. Approximately 40% of the transgenic mice developed abnormal involuntary movements with dystonic-appearing self-clasping of limbs, hyperkinesia, and rapid bidirectional circling. Neurochemical analyses revealed decreased striatal dopamine in affected transgenic mice, and immunohistochemical studies demonstrated perinuclear inclusions and aggregates that stained positively for ubiquitin (UBB; 191339), torsin-A, and lamin (LMNA; 150330). Inclusions were detected in neurons of the pedunculopontine nucleus and in other brain stem regions in a pattern similar to that described in DYT1 patients. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Eldridge (1970); Eldridge (1981); Kamm et al. (1999); Wachtel et al.
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(1982); Zeman and Dyken (1967)
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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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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Asanuma, K., Ma, Y., Okulski, J., Dhawan, V., Chaly, T., Carbon, M., Bressman, S. B., Eidelberg, D.
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<strong>Decreased striatal D2 receptor binding in non-manifesting carriers of the DYT1 dystonia mutation.</strong>
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Neurology 64: 347-349, 2005. Note: Erratum: Neurology 37: 140 only, 1995.
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Askenasy, J. J., Oberman, T. J., Herzberg, M., Carasso, R., Streifler, M.
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<strong>Serum dopamine beta hydroxylase activity and metoclopramide provocative test in torsion dystonia.</strong>
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Breakefield, X. O., Bressman, S. B., Kramer, P. L., Ozelius, L., Moskowitz, C., Tanzi, R., Brin, M. F., Hobbs, W., Kaufman, D., Tobin, A., Kidd, K. K., Fahn, S., Gusella, J. F.
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Bressman, S. B., de Leon, D., Kramer, P. L., Ozelius, L. J., Brin, M. F., Greene, P. E., Fahn, S., Breakefield, X. O., Risch, N. J.
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Brin, M. F., Moskowitz, C. B., Bressman, S. B., Burke, R. E., deLeon, D., Risch, N., Fahn, S.
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Am. J. Hum. Genet. 45 (suppl.): A41, 1989.
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Bundey, S., Harrison, M. J. G., Marsden, C. D.
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Calakos, N., Patel, V. D., Gottron, M., Wang, G., Tran-Viet, K.-N., Brewington, D., Beyer, J. L., Steffens, D. C., Krishnan, R. R., Zuchner, S.
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<strong>Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia.</strong>
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Carbon, M., Kingsley, P. B., Su, S., Smith, G. S., Spetsieris, P., Bressman, S., Eidelberg, D.
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<strong>Microstructural white matter changes in carriers of the DYT1 gene mutation.</strong>
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Carbon, M,, Niethammer, M., Peng, S., Raymond, D., Dhawan, V., Chaly, T., Ma, Y., Bressman, S., Eidelberg, D.
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<strong>Abnormal striatal and thalamic dopamine neurotransmission: genotype-related features of dystonia.</strong>
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Carbon, M., Su, S., Dhawan, V., Raymond, D., Bressman, S., Eidelberg, D.
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<strong>Regional metabolism in primary torsion dystonia: effects of penetrance and genotype.</strong>
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Cheng, J. T., Liu, A., Wasmuth, J., Liu, B. P., Truong, D.
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<strong>Clinical evidence of genetic anticipation in adult-onset idiopathic dystonia.</strong>
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Neurology 47: 215-219, 1996.
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[PubMed: 8710081]
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Contarino, M. F., Berger-Plantinga, E., Foncke, E. M. J., Ritz, K., Mellema, J., Baas, F., Speelman, J. D., Tijssen, M. A. J.
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<strong>Clinical and genetic characterization of a large Dutch family with primary focal dystonia.</strong>
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<p class="mim-text-font">
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Cassandra L. Kniffin - updated : 1/5/2015<br>Cassandra L. Kniffin - updated : 12/21/2010<br>Cassandra L. Kniffin - updated : 12/15/2009<br>Cassandra L. Kniffin - updated : 1/14/2009<br>Cassandra L. Kniffin - updated : 9/29/2008<br>Cassandra L. Kniffin - updated : 5/16/2008<br>George E. Tiller - updated : 10/31/2007<br>Cassandra L. Kniffin - updated : 8/26/2005<br>Cassandra L. Kniffin - updated : 6/9/2005<br>Cassandra L. Kniffin - updated : 2/24/2005<br>Victor A. McKusick - updated : 1/4/2005<br>Cassandra L. Kniffin - updated : 12/20/2004<br>Cassandra L. Kniffin - updated : 1/21/2004<br>Cassandra L. Kniffin - updated : 8/14/2003<br>Cassandra L. Kniffin - updated : 1/22/2003<br>Michael B. Petersen - updated : 11/1/2002<br>Cassandra L. Kniffin - updated : 8/22/2002<br>Cassandra L. Kniffin - reorganized : 8/22/2002<br>Victor A. McKusick - updated : 12/16/1999<br>Victor A. McKusick - updated : 11/1/1999<br>Orest Hurko - updated : 9/24/1998<br>Victor A. McKusick - updated : 5/19/1998<br>Victor A. McKusick - updated : 5/5/1998<br>Victor A. McKusick - updated : 8/28/1997<br>Victor A. McKusick - updated : 6/23/1997<br>Orest Hurko - updated : 11/24/1996<br>Orest Hurko - updated : 5/8/1996<br>Orest Hurko - updated : 9/21/1995
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<p>
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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