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Entry
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- #128230 - DYSTONIA, DOPA-RESPONSIVE; DRD
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- OMIM
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<p>
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<span class="h4">#128230</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/128230"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS128100"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#mapping">Mapping</a>
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<a href="#nomenclature">Nomenclature</a>
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<a href="#pathogenesis">Pathogenesis</a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<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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</ul>
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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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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</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, DOPA-RESPONSIVE" 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=13825&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/NBK1508/" 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/2419" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=128230[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=98808" 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 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:0090043" 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/128230" 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:0090043" 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 style="display: table-cell;">Cell Lines</div>
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</a>
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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:128230" 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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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<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>SNOMEDCT:</strong> 230332007, 715768000<br />
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<strong>ORPHA:</strong> 98808<br />
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<strong>DO:</strong> 0090043<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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128230
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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, DOPA-RESPONSIVE; DRD
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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 5; DYT5<br />
|
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DYSTONIA, PROGRESSIVE, WITH DIURNAL VARIATION<br />
|
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DYSTONIA-PARKINSONISM WITH DIURNAL FLUCTUATION<br />
|
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SEGAWA SYNDROME, AUTOSOMAL DOMINANT<br />
|
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DYSTONIA, DOPA-RESPONSIVE, AUTOSOMAL DOMINANT<br />
|
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DOPA-RESPONSIVE DYSTONIA, AUTOSOMAL DOMINANT
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<tr class="active">
|
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<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/14/252?start=-3&limit=10&highlight=252">
|
|
14q22.2
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Dystonia, DOPA-responsive
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/128230"> 128230 </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">
|
|
GCH1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600225"> 600225 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/128230" 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/128230" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/128230" 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 /> -
|
|
Autosomal recessive (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</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> 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">
|
|
|
|
- Scoliosis (rare) <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 />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Limbs </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Talipes equinovarus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/397932003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">397932003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1156475005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1156475005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.89" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.89</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/754.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009081&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009081</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001762" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001762</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001762" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001762</a>]</span><br /> -
|
|
Pes cavus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/205091006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">205091006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/36755004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">36755004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86900005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86900005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/736.73" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">736.73</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/754.71" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.71</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0728829&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0728829</a>, <a href="https://bioportal.bioontology.org/search?q=C0039273&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039273</a>, <a href="https://bioportal.bioontology.org/search?q=C2239098&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2239098</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001761" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001761</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001761" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001761</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=2ad12e53b20f47e5685234fa29da6610" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Pes_Cavus-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=2ad12e53b20f47e5685234fa29da6610" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Postural dystonia (onset is restricted to 1 extremity, usually lower, with foot dystonia) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2751157&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2751157</a>]</span><br /> -
|
|
Action dystonia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851922&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851922</a>]</span><br /> -
|
|
Focal dystonia (e.g., writer's cramp) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851923&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851923</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 /> -
|
|
By 10-15 years after onset, postural dystonia spreads to all limbs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851925&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851925</a>]</span><br /> -
|
|
Gait abnormalities <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22325002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22325002</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/781.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">781.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0575081&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0575081</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001288" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001288</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001288" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001288</a>]</span><br /> -
|
|
Gait ataxia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/25136009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">25136009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R26.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R26.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0751837&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0751837</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002066" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002066</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002066" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002066</a>]</span><br /> -
|
|
Postural tremor (later onset, spreads to all limbs and neck) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851926&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851926</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/56610005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">56610005</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002174" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002174</a>]</span><br /> -
|
|
Hyperreflexia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86854008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86854008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151889&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151889</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001347</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001347</a>]</span><br /> -
|
|
Extensor plantar responses <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246586009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246586009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/366575004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">366575004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0034935&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0034935</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003487" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003487</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003487" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003487</a>]</span><br /> -
|
|
Parkinsonism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32798002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32798002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G20.C" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G20.C</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0242422&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0242422</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001300" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001300</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001300" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001300</a>]</span><br /> -
|
|
Asymmetry of symptoms <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851927&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851927</a>]</span><br /> -
|
|
Extrapyramidal signs may develop <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1969931&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1969931</a>]</span><br /> -
|
|
Cerebellar signs may develop <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1969932&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1969932</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> LABORATORY ABNORMALITIES </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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- Decreased tetrahydrobiopterin (BH4) in CSF <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2751159&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2751159</a>]</span><br /> -
|
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Decreased homovanillic acid (HVA) in CSF <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837626&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837626</a>]</span><br /> -
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5-HIAA CSF may be normal or decreased <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2751160&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2751160</a>]</span><br /> -
|
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Decreased GTP cyclohydrolase I activity (about 20% of normal) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851928&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851928</a>]</span><br /> -
|
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Transient hyperphenylalaninemia occurs on oral loading test with phenylalanine <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2748720&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2748720</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> 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 childhood (6-7 years)<br /> -
|
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Defect in tetrahydrobiopterin (BH4) synthesis<br /> -
|
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Favorable response to L-DOPA without side effects<br /> -
|
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Favorable response to BH4<br /> -
|
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Diurnal fluctuation, more apparent in earlier years, later subsides<br /> -
|
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Symptoms worsen with fatigue and exercise<br /> -
|
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Age-related clinical course<br /> -
|
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Female predominance (4:1)<br /> -
|
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Clinical heterogeneity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837514&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837514</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span><br /> -
|
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Genetic heterogeneity (see <a href="/entry/605407">605407</a>) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0242960&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0242960</a>]</span><br /> -
|
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Autosomal recessive inheritance with earlier onset has been reported in 3 patients<br /> -
|
|
See also autosomal recessive BH4-dependent hyperphenylalaninemia (<a href="/entry/233910">233910</a>), an allelic disorder with a more severe phenotype<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 mutation in the GTP cyclohydrolase I gene (GCH1, <a href="/entry/600225#0001">600225.0001</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>
|
|
- 37 Entries
|
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</h5>
|
|
</div>
|
|
</div>
|
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|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
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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>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
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<strong>Inheritance</strong>
|
|
</th>
|
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
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</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
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|
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<a href="/geneMap/1/65?start=-3&limit=10&highlight=65"> 1p36.32-p36.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607671"> Dystonia 13, torsion </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607671"> 607671 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607671"> DYT13 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607671"> 607671 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/373?start=-3&limit=10&highlight=373"> 1p35.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617282"> Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617282"> 617282 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608205"> MECR </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608205"> 608205 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/409?start=-3&limit=10&highlight=409"> 1p35.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/224500"> Dystonia 2, torsion, autosomal recessive </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/224500"> 224500 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/142622"> HPCA </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/142622"> 142622 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/513?start=-3&limit=10&highlight=513"> 1p34.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612126"> GLUT1 deficiency syndrome 2, childhood onset </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612126"> 612126 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138140"> SLC2A1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138140"> 138140 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/513?start=-3&limit=10&highlight=513"> 1p34.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601042"> Dystonia 9 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601042"> 601042 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138140"> SLC2A1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138140"> 138140 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/185?start=-3&limit=10&highlight=185"> 2p22.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619687"> Dystonia 33 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619687"> 619687 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/176871"> EIF2AK2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/176871"> 176871 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/614?start=-3&limit=10&highlight=614"> 2q14.3-q21.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614588"> Dystonia 21 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614588"> 614588 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614588"> DYT21 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614588"> 614588 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/751?start=-3&limit=10&highlight=751"> 2q31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611147"> Paroxysmal nonkinesigenic dyskinesia 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611147"> 611147 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611147"> PNKD2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611147"> 611147 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/819?start=-3&limit=10&highlight=819"> 2q31.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612067"> Dystonia 16 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612067"> 612067 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603424"> PRKRA </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603424"> 603424 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/1003?start=-3&limit=10&highlight=1003"> 2q35 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/118800"> Paroxysmal nonkinesigenic dyskinesia 1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/118800"> 118800 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609023"> PNKD </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609023"> 609023 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/1149?start=-3&limit=10&highlight=1149"> 2q37.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616411"> Dystonia 27 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616411"> 616411 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120250"> COL6A3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120250"> 120250 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/461?start=-3&limit=10&highlight=461"> 3p13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619921"> ?Dystonia 35, childhood-onset </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619921"> 619921 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613663"> SHQ1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613663"> 613663 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/339?start=-3&limit=10&highlight=339"> 4q21.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620427"> Dystonia 37, early-onset, with striatal lesions </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620427"> 620427 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607607"> NUP54 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607607"> 607607 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/376?start=-3&limit=10&highlight=376"> 5q22.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619724"> ?Dystonia 34, myoclonic </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619724"> 619724 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605879"> KCNN2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605879"> 605879 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/425?start=-3&limit=10&highlight=425"> 7q21.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/159900"> Dystonia-11, myoclonic </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/159900"> 159900 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604149"> SGCE </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604149"> 604149 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/239?start=-3&limit=10&highlight=239"> 8p11.21 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602629"> Dystonia 6, torsion </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602629"> 602629 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609520"> THAP1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609520"> 609520 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/326?start=-3&limit=10&highlight=326"> 9q22.32 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619565"> Dystonia 31 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619565"> 619565 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619600"> AOPEP </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619600"> 619600 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/514?start=-3&limit=10&highlight=514"> 9q34 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614860"> Dystonia 23 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614860"> 614860 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614860"> DYT23 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614860"> 614860 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/571?start=-3&limit=10&highlight=571"> 9q34.11 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/128100"> Dystonia-1, torsion </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/128100"> 128100 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605204"> TOR1A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605204"> 605204 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/249?start=-3&limit=10&highlight=249"> 11p14.3-p14.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615034"> Dystonia 24 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615034"> 615034 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610110"> ANO3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610110"> 610110 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/629?start=-3&limit=10&highlight=629"> 11q13.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620245"> Episodic kinesigenic dyskinesia 3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620245"> 620245 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620108"> TMEM151A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620108"> 620108 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/1003?start=-3&limit=10&highlight=1003"> 11q23.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619637"> ?Dystonia 32 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619637"> 619637 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608549"> VPS11 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608549"> 608549 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/252?start=-3&limit=10&highlight=252"> 14q22.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/128230"> Dystonia, DOPA-responsive </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/128230"> 128230 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600225"> GCH1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600225"> 600225 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/330?start=-3&limit=10&highlight=330"> 16p11.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/128200"> Episodic kinesigenic dyskinesia 1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/128200"> 128200 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614386"> PRRT2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614386"> 614386 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/449?start=-3&limit=10&highlight=449"> 16q13-q22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611031"> Episodic kinesigenic dyskinesia 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611031"> 611031 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611031"> EKD2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611031"> 611031 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/784?start=-3&limit=10&highlight=784"> 17q22 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620453"> Dystonia 22, juvenile-onset </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620453"> 620453 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610764"> TSPOAP1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610764"> 610764 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/784?start=-3&limit=10&highlight=784"> 17q22 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620456"> ?Dystonia 22, adult-onset </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620456"> 620456 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610764"> TSPOAP1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610764"> 610764 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/18/4?start=-3&limit=10&highlight=4"> 18p11 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607488"> Dystonia-15, myoclonic </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607488"> 607488 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607488"> DYT15 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607488"> 607488 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/18/5?start=-3&limit=10&highlight=5"> 18p </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602124"> Dystonia-7, torsion </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
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<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
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<span class="mim-font">
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<a href="/entry/602124"> 602124 </a>
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<a href="/entry/602124"> DYT7 </a>
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<a href="/entry/602124"> 602124 </a>
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<a href="/geneMap/18/57?start=-3&limit=10&highlight=57"> 18p11.21 </a>
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<a href="/entry/615073"> Dystonia 25 </a>
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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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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<a href="/entry/615073"> 615073 </a>
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<a href="/entry/139312"> GNAL </a>
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<a href="/entry/139312"> 139312 </a>
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<a href="/entry/128101"> Dystonia 4, torsion, autosomal dominant </a>
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/128101"> 128101 </a>
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<span class="mim-font">
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<a href="/entry/602662"> TUBB4A </a>
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<span class="mim-font">
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<a href="/entry/602662"> 602662 </a>
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<a href="/geneMap/19/595?start=-3&limit=10&highlight=595"> 19q13.12 </a>
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<span class="mim-font">
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<a href="/entry/617284"> Dystonia 28, childhood-onset </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/617284"> 617284 </a>
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<span class="mim-font">
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<a href="/entry/606834"> KMT2B </a>
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<span class="mim-font">
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<a href="/entry/606834"> 606834 </a>
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<a href="/geneMap/19/745?start=-3&limit=10&highlight=745"> 19q13.2 </a>
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<td>
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<span class="mim-font">
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<a href="/entry/128235"> Dystonia-12 </a>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<td>
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<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 class="mim-font">
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<a href="/entry/128235"> 128235 </a>
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<td>
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<span class="mim-font">
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<a href="/entry/182350"> ATP1A3 </a>
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<span class="mim-font">
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<a href="/entry/182350"> 182350 </a>
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<span class="mim-font">
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<a href="/geneMap/20/40?start=-3&limit=10&highlight=40"> 20p13 </a>
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</span>
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<span class="mim-font">
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<a href="/entry/619291"> Dystonia 30 </a>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span 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 class="mim-font">
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<a href="/entry/619291"> 619291 </a>
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<span class="mim-font">
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<a href="/entry/608550"> VPS16 </a>
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<td>
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<span class="mim-font">
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<a href="/entry/608550"> 608550 </a>
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<a href="/geneMap/20/116?start=-3&limit=10&highlight=116"> 20p11.2-q13.12 </a>
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</span>
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<span class="mim-font">
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<a href="/entry/612406"> Dystonia-17, primary torsion </a>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
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</span>
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<span class="mim-font">
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<a href="/entry/612406"> 612406 </a>
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</span>
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<span class="mim-font">
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<a href="/entry/612406"> DYT17 </a>
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<span class="mim-font">
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<a href="/entry/612406"> 612406 </a>
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<a href="/geneMap/22/234?start=-3&limit=10&highlight=234"> 22q12.3 </a>
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</span>
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<td>
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<span class="mim-font">
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<a href="/entry/616398"> Dystonia 26, myoclonic </a>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span 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 class="mim-font">
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<a href="/entry/616398"> 616398 </a>
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<span class="mim-font">
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<a href="/entry/616386"> KCTD17 </a>
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</span>
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<span class="mim-font">
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<a href="/entry/616386"> 616386 </a>
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<span class="mim-font">
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<a href="/geneMap/X/410?start=-3&limit=10&highlight=410"> Xq13.1 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/314250"> Dystonia-Parkinsonism, X-linked </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/314250"> 314250 </a>
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<span class="mim-font">
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<a href="/entry/313650"> TAF1 </a>
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<span class="mim-font">
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<a href="/entry/313650"> 313650 </a>
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because dopa-responsive dystonia, or autosomal dominant Segawa syndrome, is caused by heterozygous mutation in the gene encoding GTP cyclohydrolase I (GCH1; <a href="/entry/600225">600225</a>) on chromosome 14q13. GTP cyclohydrolase I is rate-limiting in the conversion of GTP to tetrahydrobiopterin (BH4), the cofactor for tyrosine hydroxylase, which in turn is the rate-limiting enzyme for dopamine synthesis.</p><p>See <a href="/entry/233910">233910</a> for a discussion of BH4-deficient hyperphenylalaninemia B (HPABH4B) and autosomal recessive dopa-responsive dystonia with or without hyperphenylalaninemia, allelic disorders caused by homozygous or compound heterozygous mutations in the GCH1 gene.</p><p>An autosomal recessive form of Segawa syndrome (<a href="/entry/605407">605407</a>) is caused by mutation in the tyrosine hydroxylase gene (TH; <a href="/entry/191290">191290</a>).</p>
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<strong>Description</strong>
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<p>Autosomal dominant dopa-responsive dystonia (DRD) is characterized by generalized dystonia, diurnal fluctuation of symptoms, and a dramatic therapeutic response to L-dopa. The clinical spectrum can range from subtle neurologic signs and symptoms (e.g., abnormal writing tests) to orthopedic signs (e.g., pes equinovarus), parkinsonism, and even psychiatric manifestations (summary by <a href="#29" class="mim-tip-reference" title="Steinberger, D., Trubenbach, J., Zirn, B., Leube, B., Wildhardt, G., Muller, U. <strong>Utility of MLPA in deletion analysis of GCH1 in dopa-responsive dystonia.</strong> Neurogenetics 8: 51-55, 2007. Note: Erratum: Neurogenetics 8: 69 only, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17111153/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17111153</a>] [<a href="https://doi.org/10.1007/s10048-006-0069-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17111153">Steinberger et al., 2007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17111153" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Clinical Features</strong>
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<p><a href="#26" class="mim-tip-reference" title="Segawa, M., Hosaka, A., Miyagawa, F., Nomura, Y., Imai, H. <strong>Hereditary progressive dystonia with marked diurnal fluctuation.</strong> Adv. Neurol. 14: 215-233, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/945938/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">945938</a>]" pmid="945938">Segawa et al. (1976)</a> reported 9 patients in 6 families with postural and motor disturbances showing marked diurnal fluctuation. Dystonic posture or movement of one limb appeared insidiously between ages 1 and 9 years. All limbs were involved within 5 years of onset. Torsion of the trunk was unusual. Rigidity, resting tremors, or cerebellar, pyramidal and sensory changes were not found, and intelligence was normal. Symptoms were remarkably alleviated after sleep and aggravated gradually toward evening. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=945938" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Allen, N., Knopp, W. <strong>Hereditary parkinsonism-dystonia with sustained control by L-DOPA and anticholinergic medication.</strong> Adv. Neurol. 14: 201-213, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/942621/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">942621</a>]" pmid="942621">Allen and Knopp (1976)</a> observed a family in which 3 females had dopa-responsive dystonia: the proband, her paternal grandmother, and her niece. The proband's father had died at age 34 years. A disorder of gait ('walking on the ball of her foot') started in the proband at age 6 years and tremor in the hands at age 10. Achilles tenotomy was performed at age 11. In her thirties, striking improvement occurred with L-DOPA and anticholinergic medication. The paternal grandmother had onset of tremors at age 13 years. Flexion dystonia of the fingers and fixed facial expression were evident by age 54. She became immobile and bedridden after age 64 and died at age 80. The niece, aged 15 at the time of report, showed dystonic movements of the right hand and a longstanding disturbance of gait. L-DOPA resulted in improvement. Although these patients were earlier thought to have had juvenile Parkinson disease (<a href="/entry/168100">168100</a>), <a href="#19" class="mim-tip-reference" title="Nygaard, T. G., Marsden, C. D., Duvoisin, R. C. <strong>Dopa-responsive dystonia.</strong> Adv. Neurol. 50: 377-384, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3041760/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3041760</a>]" pmid="3041760">Nygaard et al. (1988)</a> concluded that they had dopa-responsive dystonia. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=942621+3041760" 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="Nygaard, T. G., Duvoisin, R. C. <strong>Hereditary dystonia-parkinsonism syndrome of juvenile onset.</strong> Neurology 36: 1424-1428, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3762960/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3762960</a>] [<a href="https://doi.org/10.1212/wnl.36.11.1424" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3762960">Nygaard and Duvoisin (1986)</a> studied a family with an extrapyramidal disorder characterized by childhood onset of lower limb and axial dystonia, followed by parkinsonism. Dramatic response to levodopa therapy and minimal progression in adulthood were features. A family described by <a href="#5" class="mim-tip-reference" title="de Yebenes, J. G., Moskowitz, C., Fahn, S., Saint-Hilaire, M. H. <strong>Long-term treatment with levodopa in a family with autosomal dominant torsion dystonia.</strong> Adv. Neurol. 50: 101-111, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3400489/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3400489</a>]" pmid="3400489">de Yebenes et al. (1988)</a> had childhood onset of a dopa-responsive form of dystonia involving legs, gait, and balance. Diurnal fluctuation of symptoms and features of parkinsonism were common. <a href="#21" class="mim-tip-reference" title="Nygaard, T. G., Trugman, J. M., de Yebenes, J. G., Fahn, S. <strong>Dopa-responsive dystonia: the spectrum of clinical manifestations in a large North American family.</strong> Neurology 66: 66-69, 1990."None>Nygaard et al. (1990)</a> described the spectrum of clinical manifestations in this large English/American family. The dystonia was nearly completely ameliorated by levodopa therapy. Penetrance of the dystonia gene was estimated to be 35% in this family. Four persons carrying the dystonia gene (2 affected and 2 obligate gene carriers) manifested parkinsonism later in life. A somewhat higher frequency than in the general population suggested that parkinsonism is a manifestation of this disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3762960+3400489" 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 study of 66 patients with DRD, including 47 with familial disease and 19 with sporadic disease, <a href="#20" class="mim-tip-reference" title="Nygaard, T. G., Marsden, C. D., Fahn, S. <strong>Dopa-responsive dystonia: long-term treatment response and prognosis.</strong> Neurology 41: 174-181, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1899474/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1899474</a>] [<a href="https://doi.org/10.1212/wnl.41.2_part_1.174" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1899474">Nygaard et al. (1991)</a> found that levodopa was the most effective treatment, with an excellent response lasting as long as 10 to 22 years. The authors noted that the coexistence of parkinsonian features and the dramatic responsiveness to levodopa are two clinical features of DRD that separate it from other forms of idiopathic torsion dystonia. In addition, the sustained nature of the levodopa responsiveness, free from the complications of therapy that typically occur in Parkinson disease (wearing-off, 'on-off,' and unpredictable dose response), distinguish DRD from other causes of childhood-onset dystonia-parkinsonism such as cerebral palsy or spastic diplegia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1899474" 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="#13" class="mim-tip-reference" title="Harwood, G., Hierons, R., Fletcher, N. A., Marsden, C. D. <strong>Lessons from a remarkable family with dopa-responsive dystonia.</strong> J. Neurol. Neurosurg. Psychiat. 57: 460-463, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8163996/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8163996</a>] [<a href="https://doi.org/10.1136/jnnp.57.4.460" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8163996">Harwood et al. (1994)</a> described a family in which 6 members of 4 generations had dopa-responsive dystonia. The disorder presented in childhood with dystonia of the legs, progressing to parkinsonism and pseudo-pyramidal deficits, or in adult life with parkinsonism and pseudo-pyramidal signs. The pseudo-pyramidal signs included exaggerated tendon reflexes and extensor plantar responses. Remarkably, in the 3 family members with childhood onset, the symptoms and signs of the condition were abolished 36 to 52 years later by small doses of levodopa. No long-term side effects of levodopa had appeared after 15 years of treatment. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8163996" 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="#30" class="mim-tip-reference" title="Steinberger, D., Weber, Y., Korinthenberg, R., Deuschl, G., Benecke, R., Martinius, J., Muller, U. <strong>High penetrance and pronounced variation in expressivity of GCH1 mutations in five families with dopa-responsive dystonia.</strong> Ann. Neurol. 43: 634-639, 1998. Note: Erratum: Ann. Neurol. 44: 147 only, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9585358/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9585358</a>] [<a href="https://doi.org/10.1002/ana.410430512" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9585358">Steinberger et al. (1998)</a> demonstrated marked variation in expressivity, even between affected members of the same kindred. Whereas one of their index cases had difficulty walking from age 3 years and was wheelchair-bound from age 6, the only demonstrable sign in her 43-year-old mother was tightening of the legs while she wrote with her left hand. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9585358" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Brique, S., Destee, A., Lambert, J.-C., Mouroux, V., Delacourte, A., Amouyel, P., Chartier-Harlin, M.-C. <strong>A new GTP-cyclohydrolase I mutation in an unusual dopa-responsive dystonia, familial form.</strong> Neuroreport 10: 487-491, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10208576/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10208576</a>] [<a href="https://doi.org/10.1097/00001756-199902250-00008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10208576">Brique et al. (1999)</a> reported a family with DRD in which 4 of 9 sibs were affected; DNA was available on 3 of the affected individuals. Two sisters were 7 and 8 years of age when dystonia appeared. A simultaneous parkinsonism developed in 1, whereas it occurred after the age of 54 years in the second sister. Levodopa therapy was effective in both. In the 2 brothers, dystonia began at age 13 and 15 years. Parkinsonism (rest tremor) appeared at age 15 in 1 brother. Dystonia and parkinsonism spontaneously disappeared at age 40 and age 44, respectively, in the 2 brothers. For 17 years the brothers were free of symptoms; parkinsonism then reappeared in both of them, but was dramatically improved by levodopa. Genetic analysis revealed a mutation in the GCH1 gene (<a href="/entry/600225#0015">600225.0015</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10208576" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Hahn, H., Trant, M. R., Brownstein, M. J., Harper, R. A., Milstien, S., Butler, I. J. <strong>Neurologic and psychiatric manifestations in a family with a mutation in exon 2 of the guanosine triphosphate-cyclohydrolase gene.</strong> Arch. Neurol. 58: 749-755, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11346370/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11346370</a>] [<a href="https://doi.org/10.1001/archneur.58.5.749" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11346370">Hahn et al. (2001)</a> described a family with clinically variable neurologic and psychiatric manifestations and a novel mutation in the GCH1 gene. The proband was a young boy with variable foot dystonia and fatigue. Eleven additional members of the family were found to have the same mutation, of which 2 members were unaffected. Of the 9 affected members, there was a wide range of clinical phenotypes, including dystonia, torticollis, brisk deep tendon reflexes, and levodopa-responsive parkinsonism. Clinical deafness was found in 50% of affected family members. The father of the proband had a long history of anxiety and depression. Based on CSF analysis, <a href="#12" class="mim-tip-reference" title="Hahn, H., Trant, M. R., Brownstein, M. J., Harper, R. A., Milstien, S., Butler, I. J. <strong>Neurologic and psychiatric manifestations in a family with a mutation in exon 2 of the guanosine triphosphate-cyclohydrolase gene.</strong> Arch. Neurol. 58: 749-755, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11346370/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11346370</a>] [<a href="https://doi.org/10.1001/archneur.58.5.749" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11346370">Hahn et al. (2001)</a> suggested that the mutation may produce a defect in cerebral dopamine, serotonin, and norepinephrine biosynthesis, contributing to psychiatric manifestations. Detailed histories revealed that the family had multiple members with psychiatric symptoms, including depression, anxiety, obsessive-compulsive traits, and eating disorders. <a href="#12" class="mim-tip-reference" title="Hahn, H., Trant, M. R., Brownstein, M. J., Harper, R. A., Milstien, S., Butler, I. J. <strong>Neurologic and psychiatric manifestations in a family with a mutation in exon 2 of the guanosine triphosphate-cyclohydrolase gene.</strong> Arch. Neurol. 58: 749-755, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11346370/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11346370</a>] [<a href="https://doi.org/10.1001/archneur.58.5.749" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11346370">Hahn et al. (2001)</a> concluded that the range of neuropsychiatric features may be related to mutation in the GCH1 gene and should be included in diagnostic criteria. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11346370" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Chaila, E. C., McCabe, D. J. H., Delanty, N., Costello, D. J., Murphy, R. P. <strong>Broadening the phenotype of childhood-onset dopa-responsive dystonia.</strong> Arch. Neurol. 63: 1185-1188, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16908750/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16908750</a>] [<a href="https://doi.org/10.1001/archneur.63.8.1185" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16908750">Chaila et al. (2006)</a> reported 4 adult female sibs from Ireland with DRD confirmed by genetic analysis late in life. All had childhood-onset dystonia and pyramidal tract signs, 3 had additional extrapyramidal signs, including tremor, bradykinesia, or rigidity, and 2 had definite signs of cerebellar dysfunction. All had mild horizontal gaze-evoked nystagmus. Treatment with levodopa therapy resulted in marked clinical improvement of dystonia and cerebellar signs. The authors concluded that some patients with DRD may show cerebellar signs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16908750" 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="#10" class="mim-tip-reference" title="Grotzsch, H., Pizzolato, G.-P., Ghika, J., Schorderet, D., Vingerhoets, F. J., Landis, T., Burkhard, P. R. <strong>Neuropathology of a case of dopa-responsive dystonia associated with a new genetic locus, DYT14.</strong> Neurology 58: 1839-1842, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12084887/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12084887</a>] [<a href="https://doi.org/10.1212/wnl.58.12.1839" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12084887">Grotzsch et al. (2002)</a> reported a 3-generation Swiss family with dopa-responsive dystonia in which 7 members were definitely affected and 4 members were possibly affected. The pattern of inheritance was autosomal dominant. The proband was a 77-year-old woman who had developed dystonia of the lower limbs by age 3 years, leading to gait and postural abnormalities which worsened by the end of the day. The condition progressed, leaving her wheelchair-bound and with generalized dystonia and parkinsonism. Treatment with levodopa markedly improved symptoms. Brain autopsy of an affected patient showed severe depigmentation (hypomelanization) of the large neurons of the substantia nigra and the locus ceruleus, although the number of these neurons appeared unaffected. The defect was asymmetric, with the lateral areas more severely depigmented than the medial areas. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12084887" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The pedigree patterns in the families of <a href="#26" class="mim-tip-reference" title="Segawa, M., Hosaka, A., Miyagawa, F., Nomura, Y., Imai, H. <strong>Hereditary progressive dystonia with marked diurnal fluctuation.</strong> Adv. Neurol. 14: 215-233, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/945938/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">945938</a>]" pmid="945938">Segawa et al. (1976)</a> were consistent with irregular dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=945938" 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="Nygaard, T. G., Duvoisin, R. C. <strong>Hereditary dystonia-parkinsonism syndrome of juvenile onset.</strong> Neurology 36: 1424-1428, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3762960/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3762960</a>] [<a href="https://doi.org/10.1212/wnl.36.11.1424" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3762960">Nygaard and Duvoisin (1986)</a> reported a family which included 5 generations of affected persons with instances of male-to-male transmission in an autosomal dominant pattern. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3762960" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Furukawa, Y., Lang, A. E., Trugman, J. M., Bird, T. D., Hunter, A., Sadeh, M., Tagawa, T., St George-Hyslop, P. H., Guttman, M., Morris, L. W., Hornykiewicz, O., Shimadzu, M., Kish, S. J. <strong>Gender-related penetrance and de novo GTP-cyclohydrolase I gene mutations in dopa-responsive dystonia.</strong> Neurology 50: 1015-1020, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9566388/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9566388</a>] [<a href="https://doi.org/10.1212/wnl.50.4.1015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9566388">Furukawa et al. (1998)</a> found the penetrance of GCH1 gene mutations in women to be 2.3 times higher than in men but there was no difference in penetrance in affected children who received the mutation from the mother or father. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9566388" 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 a linkage study of 3 families, <a href="#22" class="mim-tip-reference" title="Nygaard, T. G., Wilhelmsen, K. C., Risch, N. J., Brown, D. L., Trugman, J. M., Gilliam, T. C., Fahn, S., Weeks, D. E. <strong>Linkage mapping of dopa-responsive dystonia (DRD) to chromosome 14q.</strong> Nature Genet. 5: 386-391, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8298648/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8298648</a>] [<a href="https://doi.org/10.1038/ng1293-386" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8298648">Nygaard et al. (1993)</a> mapped the DRD locus to chromosome 14. They found a maximum 2-point lod score of 4.67 at 8.6 cM from D14S63, and a maximum multipoint lod score greater than 6 for the intervals D14S47-D14S52 and D14S52-D14S63. The multipoint analyses gave equal support for localizing DRD in either of these intervals. The flanking loci D14S47 and D14S63 defined a region of about 22 cM as containing the DRD gene. In an addendum, <a href="#22" class="mim-tip-reference" title="Nygaard, T. G., Wilhelmsen, K. C., Risch, N. J., Brown, D. L., Trugman, J. M., Gilliam, T. C., Fahn, S., Weeks, D. E. <strong>Linkage mapping of dopa-responsive dystonia (DRD) to chromosome 14q.</strong> Nature Genet. 5: 386-391, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8298648/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8298648</a>] [<a href="https://doi.org/10.1038/ng1293-386" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8298648">Nygaard et al. (1993)</a> cited evidence for support of the linkage of DRD to 14q in a Japanese family, a large French-Canadian family, and 4 smaller English families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8298648" 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 the family with DRD originally reported by <a href="#10" class="mim-tip-reference" title="Grotzsch, H., Pizzolato, G.-P., Ghika, J., Schorderet, D., Vingerhoets, F. J., Landis, T., Burkhard, P. R. <strong>Neuropathology of a case of dopa-responsive dystonia associated with a new genetic locus, DYT14.</strong> Neurology 58: 1839-1842, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12084887/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12084887</a>] [<a href="https://doi.org/10.1212/wnl.58.12.1839" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12084887">Grotzsch et al. (2002)</a>, <a href="#32" class="mim-tip-reference" title="Wider, C., Melquist, S., Hauf, M., Solida, A., Cobb, S. A., Kachergus, J. M., Gass, J., Coon, K. D., Baker, M., Cannon, A., Stephan, D. A., Schorderet, D. F., Ghika, J., Burkhard, P. R., Kapatos, G., Hutton, M., Farrer, M. J., Wszolek, Z. K., Vingerhoets, F. J. G. <strong>Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1: redefining DYT14 as DYT5.</strong> Neurology 70: 1377-1383, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17804835/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17804835</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17804835[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/10.1212/01.wnl.0000275527.35752.c5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17804835">Wider et al. (2008)</a> performed linkage analysis on 32 individuals, including 6 affected family members, and found linkage to a region on chromosome 14q that included the GCH1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17804835+12084887" 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="#17" class="mim-tip-reference" title="Kwiatkowski, D. J., Nygaard, T. G., Schuback, D. E., Perman, S., Trugman, J. M., Bressman, S. B., Burke, R. E., Brin, M. F., Ozelius, L., Breakefield, X. O., Fahn, S., Kramer, P. L. <strong>Identification of a highly polymorphic microsatellite VNTR within the argininosuccinate synthetase locus: exclusion of the dystonia gene on 9q32-34 as the cause of dopa-responsive dystonia in a large kindred.</strong> Am. J. Hum. Genet. 48: 121-128, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1985454/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1985454</a>]" pmid="1985454">Kwiatkowski et al. (1991)</a> identified a highly polymorphic (GT)n repeat VNTR within the argininosuccinate synthetase locus (<a href="/entry/603470">603470</a>), which maps to 9q34, and used it to study the large family reported by <a href="#21" class="mim-tip-reference" title="Nygaard, T. G., Trugman, J. M., de Yebenes, J. G., Fahn, S. <strong>Dopa-responsive dystonia: the spectrum of clinical manifestations in a large North American family.</strong> Neurology 66: 66-69, 1990."None>Nygaard et al. (1990)</a>. They demonstrated that the gene is not located in this region of the genome and is therefore not an allele of the torsion dystonia locus (<a href="/entry/128100">128100</a>), which has been mapped to 9q32-q34. <a href="#25" class="mim-tip-reference" title="Schuback, D., Kramer, P., Ozelius, L., Holmgren, G., Forsgren, L., Kyllerman, M., Wahlstrom, J., Craft, C. M., Nygaard, T., Brin, M., de Leon, D., Bressman, S., Moskowitz, C. B., Burke, R. E., Sanner, G., Drugge, U., Gusella, J. F., Fahn, S., Breakefield, X. O. <strong>Dopamine beta-hydroxylase gene excluded in four subtypes of hereditary dystonia.</strong> Hum. Genet. 87: 311-316, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1677923/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1677923</a>] [<a href="https://doi.org/10.1007/BF00200910" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1677923">Schuback et al. (1991)</a> excluded dopamine beta-hydroxylase (<a href="/entry/223360">223360</a>) and <a href="#6" class="mim-tip-reference" title="Fletcher, N. A., Holt, I. J., Harding, A. E., Nygaard, T. G., Mallet, J., Marsden, C. D. <strong>Tyrosine hydroxylase and levodopa responsive dystonia.</strong> J. Neurol. Neurosurg. Psychiat. 52: 112-114, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2565377/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2565377</a>] [<a href="https://doi.org/10.1136/jnnp.52.1.112" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2565377">Fletcher et al. (1989)</a> excluded tyrosine hydroxylase as candidate genes. <a href="#23" class="mim-tip-reference" title="Nygaard, T. G. <strong>Personal Communication.</strong> New York, N. Y. 12/17/1993."None>Nygaard (1993)</a> excluded the TH locus in his families and, according to him, the TH locus was excluded by Segawa in his families. <a href="#2" class="mim-tip-reference" title="Bartholome, K., Dworniczak, B., Ludecke, B. <strong>Linkage of the tyrosine hydroxylase gene and Segawa's syndrome. (Abstract)</strong> Am. J. Hum. Genet. 53 (suppl.): A889 only, 1993."None>Bartholome et al. (1993)</a> demonstrated linkage of the Segawa syndrome to the gene for tyrosine hydroxylase. Furthermore, in 1 family with 2 affected children, they identified a point mutation in exon 11 of the TH gene resulting in an amino acid exchange. <a href="#9" class="mim-tip-reference" title="Gorke, W., Bartholome, K. <strong>Biochemical and neurophysiological investigations in two forms of Segawa's disease.</strong> Neuropediatrics 21: 3-8, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1969123/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1969123</a>] [<a href="https://doi.org/10.1055/s-2008-1071448" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1969123">Gorke and Bartholome (1990)</a> suggested the existence of an autosomal dominant and an autosomal recessive form of Segawa syndrome. It is the recessive form that shows linkage to the tyrosine hydroxylase gene on chromosome 11; see <a href="/entry/191290#0001">191290.0001</a> and <a href="/entry/191290#0003">191290.0003</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2565377+1985454+1969123+1677923" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The dopa-responsive dystonia in the family reported by <a href="#10" class="mim-tip-reference" title="Grotzsch, H., Pizzolato, G.-P., Ghika, J., Schorderet, D., Vingerhoets, F. J., Landis, T., Burkhard, P. R. <strong>Neuropathology of a case of dopa-responsive dystonia associated with a new genetic locus, DYT14.</strong> Neurology 58: 1839-1842, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12084887/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12084887</a>] [<a href="https://doi.org/10.1212/wnl.58.12.1839" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12084887">Grotzsch et al. (2002)</a> was originally thought to be at a locus on chromosome 14 separate from the DYT5 locus and was designated dystonia-14 (DYT14). <a href="#32" class="mim-tip-reference" title="Wider, C., Melquist, S., Hauf, M., Solida, A., Cobb, S. A., Kachergus, J. M., Gass, J., Coon, K. D., Baker, M., Cannon, A., Stephan, D. A., Schorderet, D. F., Ghika, J., Burkhard, P. R., Kapatos, G., Hutton, M., Farrer, M. J., Wszolek, Z. K., Vingerhoets, F. J. G. <strong>Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1: redefining DYT14 as DYT5.</strong> Neurology 70: 1377-1383, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17804835/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17804835</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17804835[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/10.1212/01.wnl.0000275527.35752.c5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17804835">Wider et al. (2008)</a> restudied the family reported by <a href="#10" class="mim-tip-reference" title="Grotzsch, H., Pizzolato, G.-P., Ghika, J., Schorderet, D., Vingerhoets, F. J., Landis, T., Burkhard, P. R. <strong>Neuropathology of a case of dopa-responsive dystonia associated with a new genetic locus, DYT14.</strong> Neurology 58: 1839-1842, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12084887/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12084887</a>] [<a href="https://doi.org/10.1212/wnl.58.12.1839" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12084887">Grotzsch et al. (2002)</a> and determined that the disorder was indeed DYT5 caused by mutation in the GCH1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17804835+12084887" 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 a neuropathologic examination of a patient with DRD, <a href="#24" class="mim-tip-reference" title="Rajput, A. H., Gibb, W. R. G., Zhong, X. H., Shannak, K. S., Kish, S., Chang, L. G., Hornykiewicz, O. <strong>Dopa-responsive dystonia: pathological and biochemical observations in a case.</strong> Ann. Neurol. 35: 396-402, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7908789/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7908789</a>] [<a href="https://doi.org/10.1002/ana.410350405" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7908789">Rajput et al. (1994)</a> found normal numbers of hypopigmented neurons with reduced levels of dopamine in the substantia nigra, as well as normal TH activity and normal TH protein levels in the substantia nigra. In the striatum, there was no evidence of a degenerative process, but there was a reduction of dopamine (8% of control in the putamen and 18% of control in the caudate), and a reduction of TH protein and activity. The authors concluded that disturbed dopamine synthetic capacity or a reduced arborization of striatal dopamine terminals may be the underlying pathophysiology in DRD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7908789" 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 DRD, <a href="#22" class="mim-tip-reference" title="Nygaard, T. G., Wilhelmsen, K. C., Risch, N. J., Brown, D. L., Trugman, J. M., Gilliam, T. C., Fahn, S., Weeks, D. E. <strong>Linkage mapping of dopa-responsive dystonia (DRD) to chromosome 14q.</strong> Nature Genet. 5: 386-391, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8298648/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8298648</a>] [<a href="https://doi.org/10.1038/ng1293-386" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8298648">Nygaard et al. (1993)</a> described decreased melanin content in the substantia nigra, with normal neuronal cell counts and morphology, suggesting a developmental reduction in the number of dopaminergic nerve endings in the striatum. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8298648" 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 neuropathologic examination of 2 patients with DRD, <a href="#8" class="mim-tip-reference" title="Furukawa, Y., Nygaard, T. G., Gutlich, M., Rajput, A. H., Pifl, C., DiStefano, L., Chang, L. J., Price, K., Shimadzu, M., Hornykiewicz, O., Haycock, J. W., Kish, S. J. <strong>Striatal biopterin and tyrosine hydroxylase protein reduction in dopa-responsive dystonia.</strong> Neurology 53: 1032-1041, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10496263/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10496263</a>] [<a href="https://doi.org/10.1212/wnl.53.5.1032" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10496263">Furukawa et al. (1999)</a> found a substantial decrease in brain tetrahydrobiopterin (BH4), reduced brain neopterin, and low levels of the tyrosine hydroxylase protein, which are likely secondary to BH4 deficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10496263" 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>There is a 4:1 female predominance in dopa-responsive dystonia. <a href="#16" class="mim-tip-reference" title="Ichinose, H., Ohye, T., Takahashi, E., Seki, N., Hori, T., Segawa, M., Nomura, Y., Endo, K., Tanaka, H., Tsuji, S., Fujita, K., Nagatsu, T. <strong>Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene.</strong> Nature Genet. 8: 236-242, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7874165/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7874165</a>] [<a href="https://doi.org/10.1038/ng1194-236" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7874165">Ichinose et al. (1994)</a> found higher GTP cyclohydrolase I activities in males than in females, a possible explanation for the difference in frequency of the disorder. The diurnal fluctuations that are characteristic of this disorder may be explained by the relatively short half-life of tetrahydrobiopterin. The patients may synthesize tetrahydrobiopterin at a low rate that is not high enough to compensate for the consumption of the cofactor during the day, thus leading to aggravation of symptoms toward evening. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7874165" 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 detailed review of the disorder, <a href="#27" class="mim-tip-reference" title="Segawa, M., Nomura, Y., Nishiyama, N. <strong>Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease).</strong> Ann. Neurol. 54: S32-S45, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12891652/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12891652</a>] [<a href="https://doi.org/10.1002/ana.10630" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12891652">Segawa et al. (2003)</a> presented neuroimaging, neurophysiologic, and biochemical evidence to confirm the normal preservation of the structure of nigrostriatal dopaminergic neurons. The findings suggested that decreased striatal dopamine and a decreased level of tyrosine hydroxylase is the main pathology of autosomal dominant DRD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12891652" 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>Hyland et al. (<a href="#14" class="mim-tip-reference" title="Hyland, K., Fryburg, J. S., Wilson, W. G., Bebin, E. M., Arnold, L. A., Gunasekera, R. S., Jacobson, R. D., Rost-Ruffner, E., Trugman, J. M. <strong>Oral phenylalanine loading in dopa-responsive dystonia: a possible diagnostic test.</strong> Neurology 48: 1290-1297, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9153460/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9153460</a>] [<a href="https://doi.org/10.1212/wnl.48.5.1290" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9153460">1997</a>, <a href="#15" class="mim-tip-reference" title="Hyland, K., Nygaard, T. G., Trugman, J. M., Swoboda, K. J., Arnold, L. A., Sparagana, S. P. <strong>Oral phenylalanine loading profiles in symptomatic and asymptomatic gene carriers with dopa-responsive dystonia due to dominantly inherited GTP cyclohydrolase deficiency.</strong> J. Inherit. Metab. Dis. 22: 213-215, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10384370/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10384370</a>] [<a href="https://doi.org/10.1023/a:1005532610051" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10384370">1999</a>) demonstrated that oral phenylalanine loading can identify both symptomatic and asymptomatic carriers of the gene for autosomal dominant GTP cyclohydrolase deficiency. Patients with heterozygous mutations showed significantly increased plasma phenylalanine after loading compared to controls. The findings indicated decreased hepatic PAH (<a href="/entry/612349">612349</a>) activity due to defective synthesis of BH4 resulting from GCH1 mutations, and suggested that patients with heterozygous mutations can show hyperphenylalaninemia if stressed. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9153460+10384370" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of 4 families with DRD, <a href="#16" class="mim-tip-reference" title="Ichinose, H., Ohye, T., Takahashi, E., Seki, N., Hori, T., Segawa, M., Nomura, Y., Endo, K., Tanaka, H., Tsuji, S., Fujita, K., Nagatsu, T. <strong>Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene.</strong> Nature Genet. 8: 236-242, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7874165/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7874165</a>] [<a href="https://doi.org/10.1038/ng1194-236" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7874165">Ichinose et al. (1994)</a> identified 4 different mutations in the GCH1 gene (<a href="/entry/600225#0001">600225.0001</a>-<a href="/entry/600225#0004">600225.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7874165" 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 58 patients with dopa-responsive dystonia, <a href="#28" class="mim-tip-reference" title="Steinberger, D., Korinthenberg, R., Topka, H., Berghauser, M., Wedde, R., Muller, U. <strong>Dopa-responsive dystonia: mutation analysis of GCH1 and analysis of therapeutic doses of L-dopa.</strong> Neurology 55: 1735-1737, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11113234/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11113234</a>] [<a href="https://doi.org/10.1212/wnl.55.11.1735" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11113234">Steinberger et al. (2000)</a> identified mutations in the GCH1 gene in 30 individuals from 22 families. Thirteen of the mutations were familial, 3 occurred de novo, and inheritance could not be determined in 6 cases. Since there was no difference in therapeutic doses of L-DOPA between patients with or without a GCH1 mutation, the authors suggested that the phenotype in those without a GCH1 mutation may be caused by other genes involved in the synthesis of dopamine. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11113234" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Hagenah, J., Saunders-Pullman, R., Hedrich, K., Kabakci, K., Habermann, K., Wiegers, K., Mohrmann, K., Lohnau, T., Raymond, D., Vieregge, P., Nygaard, T., Ozelius, L. J., Bressman, S. B., Klein, C. <strong>High mutation rate in dopa-responsive dystonia: detection with comprehensive GCH1 screening.</strong> Neurology 64: 908-911, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15753436/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15753436</a>] [<a href="https://doi.org/10.1212/01.WNL.0000152839.50258.A2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15753436">Hagenah et al. (2005)</a> identified mutations in the GCH1 gene in 20 (87%) of 23 unrelated individuals with dopa-responsive dystonia. Two patients had large deletions of more than 1 exon, which were detected only by quantitative PCR testing. <a href="#11" class="mim-tip-reference" title="Hagenah, J., Saunders-Pullman, R., Hedrich, K., Kabakci, K., Habermann, K., Wiegers, K., Mohrmann, K., Lohnau, T., Raymond, D., Vieregge, P., Nygaard, T., Ozelius, L. J., Bressman, S. B., Klein, C. <strong>High mutation rate in dopa-responsive dystonia: detection with comprehensive GCH1 screening.</strong> Neurology 64: 908-911, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15753436/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15753436</a>] [<a href="https://doi.org/10.1212/01.WNL.0000152839.50258.A2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15753436">Hagenah et al. (2005)</a> stated that 85 different mutations had been reported in the GCH1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15753436" 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 multiple ligation-dependent probe amplification (MLPA), <a href="#29" class="mim-tip-reference" title="Steinberger, D., Trubenbach, J., Zirn, B., Leube, B., Wildhardt, G., Muller, U. <strong>Utility of MLPA in deletion analysis of GCH1 in dopa-responsive dystonia.</strong> Neurogenetics 8: 51-55, 2007. Note: Erratum: Neurogenetics 8: 69 only, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17111153/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17111153</a>] [<a href="https://doi.org/10.1007/s10048-006-0069-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17111153">Steinberger et al. (2007)</a> identified 3 different deletions in the GCH1 gene in multiple affected members of 3 unrelated families with DRD. Previous analysis had excluded single basepair changes in the GCH1 gene. The findings demonstrated that DRD is most likely due to haploinsufficiency of the GCH1 gene, rather than a dominant-negative effect. All patients showed characteristic signs and symptoms of DRD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17111153" 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 DRD and variation in the SOX6 gene, see <a href="/entry/607257#0001">607257.0001</a>.</p>
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<a href="#Sunohara1985" class="mim-tip-reference" title="Sunohara, N., Mano, Y., Ando, K., Satoyoshi, E. <strong>Idiopathic dystonia-parkinsonism with marked diurnal fluctuation of symptoms.</strong> Ann. Neurol. 17: 39-45, 1985.">Sunohara et al. (1985)</a>
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Bartholome, K., Dworniczak, B., Ludecke, B.
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Brique, S., Destee, A., Lambert, J.-C., Mouroux, V., Delacourte, A., Amouyel, P., Chartier-Harlin, M.-C.
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Chaila, E. C., McCabe, D. J. H., Delanty, N., Costello, D. J., Murphy, R. P.
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de Yebenes, J. G., Moskowitz, C., Fahn, S., Saint-Hilaire, M. H.
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<strong>Long-term treatment with levodopa in a family with autosomal dominant torsion dystonia.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3400489/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3400489</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3400489" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Fletcher, N. A., Holt, I. J., Harding, A. E., Nygaard, T. G., Mallet, J., Marsden, C. D.
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[<a href="https://doi.org/10.1136/jnnp.52.1.112" target="_blank">Full Text</a>]
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Furukawa, Y., Lang, A. E., Trugman, J. M., Bird, T. D., Hunter, A., Sadeh, M., Tagawa, T., St George-Hyslop, P. H., Guttman, M., Morris, L. W., Hornykiewicz, O., Shimadzu, M., Kish, S. J.
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<strong>Gender-related penetrance and de novo GTP-cyclohydrolase I gene mutations in dopa-responsive dystonia.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9566388/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9566388</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9566388" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/wnl.50.4.1015" target="_blank">Full Text</a>]
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Furukawa, Y., Nygaard, T. G., Gutlich, M., Rajput, A. H., Pifl, C., DiStefano, L., Chang, L. J., Price, K., Shimadzu, M., Hornykiewicz, O., Haycock, J. W., Kish, S. J.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10496263/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10496263</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10496263" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Gorke, W., Bartholome, K.
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<strong>Biochemical and neurophysiological investigations in two forms of Segawa's disease.</strong>
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Neuropediatrics 21: 3-8, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1969123/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1969123</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1969123" 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/10.1055/s-2008-1071448" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/wnl.58.12.1839" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/01.WNL.0000152839.50258.A2" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archneur.58.5.749" target="_blank">Full Text</a>]
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<strong>Dopa-responsive dystonia: mutation analysis of GCH1 and analysis of therapeutic doses of L-dopa.</strong>
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Neurology 55: 1735-1737, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11113234/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11113234</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11113234" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/wnl.55.11.1735" target="_blank">Full Text</a>]
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<a id="29" class="mim-anchor"></a>
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<a id="Steinberger2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Steinberger, D., Trubenbach, J., Zirn, B., Leube, B., Wildhardt, G., Muller, U.
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<strong>Utility of MLPA in deletion analysis of GCH1 in dopa-responsive dystonia.</strong>
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Neurogenetics 8: 51-55, 2007. Note: Erratum: Neurogenetics 8: 69 only, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17111153/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17111153</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17111153" 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/10.1007/s10048-006-0069-6" target="_blank">Full Text</a>]
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<a id="30" class="mim-anchor"></a>
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<a id="Steinberger1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Steinberger, D., Weber, Y., Korinthenberg, R., Deuschl, G., Benecke, R., Martinius, J., Muller, U.
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<strong>High penetrance and pronounced variation in expressivity of GCH1 mutations in five families with dopa-responsive dystonia.</strong>
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Ann. Neurol. 43: 634-639, 1998. Note: Erratum: Ann. Neurol. 44: 147 only, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9585358/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9585358</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9585358" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ana.410430512" target="_blank">Full Text</a>]
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<a id="Sunohara1985" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sunohara, N., Mano, Y., Ando, K., Satoyoshi, E.
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<strong>Idiopathic dystonia-parkinsonism with marked diurnal fluctuation of symptoms.</strong>
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Ann. Neurol. 17: 39-45, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3985584/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3985584</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3985584" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ana.410170110" target="_blank">Full Text</a>]
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<a id="Wider2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wider, C., Melquist, S., Hauf, M., Solida, A., Cobb, S. A., Kachergus, J. M., Gass, J., Coon, K. D., Baker, M., Cannon, A., Stephan, D. A., Schorderet, D. F., Ghika, J., Burkhard, P. R., Kapatos, G., Hutton, M., Farrer, M. J., Wszolek, Z. K., Vingerhoets, F. J. G.
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<strong>Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1: redefining DYT14 as DYT5.</strong>
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Neurology 70: 1377-1383, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17804835/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17804835</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17804835[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17804835" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/01.wnl.0000275527.35752.c5" target="_blank">Full Text</a>]
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<span class="mim-text-font">
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Anne M. Stumpf - updated : 03/30/2020
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Cassandra L. Kniffin - updated : 11/13/2019<br>Cassandra L. Kniffin - updated : 4/10/2009<br>Cassandra L. Kniffin - updated : 7/3/2008<br>Cassandra L. Kniffin - updated : 2/27/2007<br>Cassandra L. Kniffin - updated : 11/6/2006<br>Cassandra L. Kniffin - updated : 4/27/2005<br>Cassandra L. Kniffin - updated : 12/24/2003<br>Cassandra L. Kniffin - reorganized : 8/28/2002<br>Cassandra L. Kniffin - updated : 7/8/2002<br>Victor A. McKusick - updated : 2/5/1999<br>Orest Hurko - updated : 11/7/1998<br>Orest Hurko - updated : 9/24/1998
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Victor A. McKusick : 6/4/1986
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carol : 04/01/2020
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carol : 03/31/2020<br>alopez : 03/30/2020<br>carol : 11/19/2019<br>ckniffin : 11/13/2019<br>carol : 08/30/2013<br>carol : 3/21/2013<br>carol : 11/5/2012<br>terry : 12/16/2009<br>carol : 4/16/2009<br>carol : 4/15/2009<br>ckniffin : 4/10/2009<br>wwang : 7/8/2008<br>ckniffin : 7/3/2008<br>wwang : 3/5/2007<br>ckniffin : 2/28/2007<br>ckniffin : 2/27/2007<br>wwang : 11/9/2006<br>ckniffin : 11/6/2006<br>wwang : 10/19/2006<br>wwang : 5/3/2005<br>ckniffin : 4/27/2005<br>carol : 12/30/2003<br>ckniffin : 12/24/2003<br>terry : 1/2/2003<br>carol : 9/13/2002<br>ckniffin : 9/11/2002<br>carol : 8/28/2002<br>ckniffin : 8/22/2002<br>tkritzer : 8/9/2002<br>ckniffin : 7/8/2002<br>carol : 11/17/2000<br>carol : 5/26/1999<br>carol : 2/5/1999<br>terry : 1/22/1999<br>carol : 12/7/1998<br>carol : 12/3/1998<br>terry : 11/7/1998<br>carol : 9/24/1998<br>carol : 8/4/1998<br>terry : 8/3/1998<br>dkim : 7/24/1998<br>carol : 7/16/1998<br>terry : 11/14/1997<br>terry : 11/11/1997<br>mark : 11/14/1995<br>carol : 2/3/1995<br>terry : 12/7/1994<br>mimadm : 6/25/1994<br>warfield : 4/8/1994<br>carol : 12/22/1993
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<span class="mim-font">
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<strong>#</strong> 128230
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DYSTONIA, DOPA-RESPONSIVE; DRD
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<em>Alternative titles; symbols</em>
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DYSTONIA 5; DYT5<br />
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DYSTONIA, PROGRESSIVE, WITH DIURNAL VARIATION<br />
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DYSTONIA-PARKINSONISM WITH DIURNAL FLUCTUATION<br />
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SEGAWA SYNDROME, AUTOSOMAL DOMINANT<br />
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DYSTONIA, DOPA-RESPONSIVE, AUTOSOMAL DOMINANT<br />
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DOPA-RESPONSIVE DYSTONIA, AUTOSOMAL DOMINANT
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<strong>SNOMEDCT:</strong> 230332007, 715768000;
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<strong>ORPHA:</strong> 98808;
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<strong>DO:</strong> 0090043;
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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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14q22.2
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Dystonia, DOPA-responsive
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128230
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Autosomal dominant; Autosomal recessive
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3
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GCH1
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600225
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because dopa-responsive dystonia, or autosomal dominant Segawa syndrome, is caused by heterozygous mutation in the gene encoding GTP cyclohydrolase I (GCH1; 600225) on chromosome 14q13. GTP cyclohydrolase I is rate-limiting in the conversion of GTP to tetrahydrobiopterin (BH4), the cofactor for tyrosine hydroxylase, which in turn is the rate-limiting enzyme for dopamine synthesis.</p><p>See 233910 for a discussion of BH4-deficient hyperphenylalaninemia B (HPABH4B) and autosomal recessive dopa-responsive dystonia with or without hyperphenylalaninemia, allelic disorders caused by homozygous or compound heterozygous mutations in the GCH1 gene.</p><p>An autosomal recessive form of Segawa syndrome (605407) is caused by mutation in the tyrosine hydroxylase gene (TH; 191290).</p>
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<strong>Description</strong>
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<p>Autosomal dominant dopa-responsive dystonia (DRD) is characterized by generalized dystonia, diurnal fluctuation of symptoms, and a dramatic therapeutic response to L-dopa. The clinical spectrum can range from subtle neurologic signs and symptoms (e.g., abnormal writing tests) to orthopedic signs (e.g., pes equinovarus), parkinsonism, and even psychiatric manifestations (summary by Steinberger et al., 2007). </p>
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<strong>Clinical Features</strong>
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<p>Segawa et al. (1976) reported 9 patients in 6 families with postural and motor disturbances showing marked diurnal fluctuation. Dystonic posture or movement of one limb appeared insidiously between ages 1 and 9 years. All limbs were involved within 5 years of onset. Torsion of the trunk was unusual. Rigidity, resting tremors, or cerebellar, pyramidal and sensory changes were not found, and intelligence was normal. Symptoms were remarkably alleviated after sleep and aggravated gradually toward evening. </p><p>Allen and Knopp (1976) observed a family in which 3 females had dopa-responsive dystonia: the proband, her paternal grandmother, and her niece. The proband's father had died at age 34 years. A disorder of gait ('walking on the ball of her foot') started in the proband at age 6 years and tremor in the hands at age 10. Achilles tenotomy was performed at age 11. In her thirties, striking improvement occurred with L-DOPA and anticholinergic medication. The paternal grandmother had onset of tremors at age 13 years. Flexion dystonia of the fingers and fixed facial expression were evident by age 54. She became immobile and bedridden after age 64 and died at age 80. The niece, aged 15 at the time of report, showed dystonic movements of the right hand and a longstanding disturbance of gait. L-DOPA resulted in improvement. Although these patients were earlier thought to have had juvenile Parkinson disease (168100), Nygaard et al. (1988) concluded that they had dopa-responsive dystonia. </p><p>Nygaard and Duvoisin (1986) studied a family with an extrapyramidal disorder characterized by childhood onset of lower limb and axial dystonia, followed by parkinsonism. Dramatic response to levodopa therapy and minimal progression in adulthood were features. A family described by de Yebenes et al. (1988) had childhood onset of a dopa-responsive form of dystonia involving legs, gait, and balance. Diurnal fluctuation of symptoms and features of parkinsonism were common. Nygaard et al. (1990) described the spectrum of clinical manifestations in this large English/American family. The dystonia was nearly completely ameliorated by levodopa therapy. Penetrance of the dystonia gene was estimated to be 35% in this family. Four persons carrying the dystonia gene (2 affected and 2 obligate gene carriers) manifested parkinsonism later in life. A somewhat higher frequency than in the general population suggested that parkinsonism is a manifestation of this disorder. </p><p>In a study of 66 patients with DRD, including 47 with familial disease and 19 with sporadic disease, Nygaard et al. (1991) found that levodopa was the most effective treatment, with an excellent response lasting as long as 10 to 22 years. The authors noted that the coexistence of parkinsonian features and the dramatic responsiveness to levodopa are two clinical features of DRD that separate it from other forms of idiopathic torsion dystonia. In addition, the sustained nature of the levodopa responsiveness, free from the complications of therapy that typically occur in Parkinson disease (wearing-off, 'on-off,' and unpredictable dose response), distinguish DRD from other causes of childhood-onset dystonia-parkinsonism such as cerebral palsy or spastic diplegia. </p><p>Harwood et al. (1994) described a family in which 6 members of 4 generations had dopa-responsive dystonia. The disorder presented in childhood with dystonia of the legs, progressing to parkinsonism and pseudo-pyramidal deficits, or in adult life with parkinsonism and pseudo-pyramidal signs. The pseudo-pyramidal signs included exaggerated tendon reflexes and extensor plantar responses. Remarkably, in the 3 family members with childhood onset, the symptoms and signs of the condition were abolished 36 to 52 years later by small doses of levodopa. No long-term side effects of levodopa had appeared after 15 years of treatment. </p><p>Steinberger et al. (1998) demonstrated marked variation in expressivity, even between affected members of the same kindred. Whereas one of their index cases had difficulty walking from age 3 years and was wheelchair-bound from age 6, the only demonstrable sign in her 43-year-old mother was tightening of the legs while she wrote with her left hand. </p><p>Brique et al. (1999) reported a family with DRD in which 4 of 9 sibs were affected; DNA was available on 3 of the affected individuals. Two sisters were 7 and 8 years of age when dystonia appeared. A simultaneous parkinsonism developed in 1, whereas it occurred after the age of 54 years in the second sister. Levodopa therapy was effective in both. In the 2 brothers, dystonia began at age 13 and 15 years. Parkinsonism (rest tremor) appeared at age 15 in 1 brother. Dystonia and parkinsonism spontaneously disappeared at age 40 and age 44, respectively, in the 2 brothers. For 17 years the brothers were free of symptoms; parkinsonism then reappeared in both of them, but was dramatically improved by levodopa. Genetic analysis revealed a mutation in the GCH1 gene (600225.0015). </p><p>Hahn et al. (2001) described a family with clinically variable neurologic and psychiatric manifestations and a novel mutation in the GCH1 gene. The proband was a young boy with variable foot dystonia and fatigue. Eleven additional members of the family were found to have the same mutation, of which 2 members were unaffected. Of the 9 affected members, there was a wide range of clinical phenotypes, including dystonia, torticollis, brisk deep tendon reflexes, and levodopa-responsive parkinsonism. Clinical deafness was found in 50% of affected family members. The father of the proband had a long history of anxiety and depression. Based on CSF analysis, Hahn et al. (2001) suggested that the mutation may produce a defect in cerebral dopamine, serotonin, and norepinephrine biosynthesis, contributing to psychiatric manifestations. Detailed histories revealed that the family had multiple members with psychiatric symptoms, including depression, anxiety, obsessive-compulsive traits, and eating disorders. Hahn et al. (2001) concluded that the range of neuropsychiatric features may be related to mutation in the GCH1 gene and should be included in diagnostic criteria. </p><p>Chaila et al. (2006) reported 4 adult female sibs from Ireland with DRD confirmed by genetic analysis late in life. All had childhood-onset dystonia and pyramidal tract signs, 3 had additional extrapyramidal signs, including tremor, bradykinesia, or rigidity, and 2 had definite signs of cerebellar dysfunction. All had mild horizontal gaze-evoked nystagmus. Treatment with levodopa therapy resulted in marked clinical improvement of dystonia and cerebellar signs. The authors concluded that some patients with DRD may show cerebellar signs. </p><p>Grotzsch et al. (2002) reported a 3-generation Swiss family with dopa-responsive dystonia in which 7 members were definitely affected and 4 members were possibly affected. The pattern of inheritance was autosomal dominant. The proband was a 77-year-old woman who had developed dystonia of the lower limbs by age 3 years, leading to gait and postural abnormalities which worsened by the end of the day. The condition progressed, leaving her wheelchair-bound and with generalized dystonia and parkinsonism. Treatment with levodopa markedly improved symptoms. Brain autopsy of an affected patient showed severe depigmentation (hypomelanization) of the large neurons of the substantia nigra and the locus ceruleus, although the number of these neurons appeared unaffected. The defect was asymmetric, with the lateral areas more severely depigmented than the medial areas. </p>
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<strong>Inheritance</strong>
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<p>The pedigree patterns in the families of Segawa et al. (1976) were consistent with irregular dominant inheritance. </p><p>Nygaard and Duvoisin (1986) reported a family which included 5 generations of affected persons with instances of male-to-male transmission in an autosomal dominant pattern. </p><p>Furukawa et al. (1998) found the penetrance of GCH1 gene mutations in women to be 2.3 times higher than in men but there was no difference in penetrance in affected children who received the mutation from the mother or father. </p>
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<strong>Mapping</strong>
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<p>In a linkage study of 3 families, Nygaard et al. (1993) mapped the DRD locus to chromosome 14. They found a maximum 2-point lod score of 4.67 at 8.6 cM from D14S63, and a maximum multipoint lod score greater than 6 for the intervals D14S47-D14S52 and D14S52-D14S63. The multipoint analyses gave equal support for localizing DRD in either of these intervals. The flanking loci D14S47 and D14S63 defined a region of about 22 cM as containing the DRD gene. In an addendum, Nygaard et al. (1993) cited evidence for support of the linkage of DRD to 14q in a Japanese family, a large French-Canadian family, and 4 smaller English families. </p><p>In the family with DRD originally reported by Grotzsch et al. (2002), Wider et al. (2008) performed linkage analysis on 32 individuals, including 6 affected family members, and found linkage to a region on chromosome 14q that included the GCH1 gene. </p><p><strong><em>Exclusion Studies</em></strong></p><p>
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Kwiatkowski et al. (1991) identified a highly polymorphic (GT)n repeat VNTR within the argininosuccinate synthetase locus (603470), which maps to 9q34, and used it to study the large family reported by Nygaard et al. (1990). They demonstrated that the gene is not located in this region of the genome and is therefore not an allele of the torsion dystonia locus (128100), which has been mapped to 9q32-q34. Schuback et al. (1991) excluded dopamine beta-hydroxylase (223360) and Fletcher et al. (1989) excluded tyrosine hydroxylase as candidate genes. Nygaard (1993) excluded the TH locus in his families and, according to him, the TH locus was excluded by Segawa in his families. Bartholome et al. (1993) demonstrated linkage of the Segawa syndrome to the gene for tyrosine hydroxylase. Furthermore, in 1 family with 2 affected children, they identified a point mutation in exon 11 of the TH gene resulting in an amino acid exchange. Gorke and Bartholome (1990) suggested the existence of an autosomal dominant and an autosomal recessive form of Segawa syndrome. It is the recessive form that shows linkage to the tyrosine hydroxylase gene on chromosome 11; see 191290.0001 and 191290.0003. </p>
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<strong>Nomenclature</strong>
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<p>The dopa-responsive dystonia in the family reported by Grotzsch et al. (2002) was originally thought to be at a locus on chromosome 14 separate from the DYT5 locus and was designated dystonia-14 (DYT14). Wider et al. (2008) restudied the family reported by Grotzsch et al. (2002) and determined that the disorder was indeed DYT5 caused by mutation in the GCH1 gene. </p>
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<strong>Pathogenesis</strong>
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<p>In a neuropathologic examination of a patient with DRD, Rajput et al. (1994) found normal numbers of hypopigmented neurons with reduced levels of dopamine in the substantia nigra, as well as normal TH activity and normal TH protein levels in the substantia nigra. In the striatum, there was no evidence of a degenerative process, but there was a reduction of dopamine (8% of control in the putamen and 18% of control in the caudate), and a reduction of TH protein and activity. The authors concluded that disturbed dopamine synthetic capacity or a reduced arborization of striatal dopamine terminals may be the underlying pathophysiology in DRD. </p><p>In DRD, Nygaard et al. (1993) described decreased melanin content in the substantia nigra, with normal neuronal cell counts and morphology, suggesting a developmental reduction in the number of dopaminergic nerve endings in the striatum. </p><p>In neuropathologic examination of 2 patients with DRD, Furukawa et al. (1999) found a substantial decrease in brain tetrahydrobiopterin (BH4), reduced brain neopterin, and low levels of the tyrosine hydroxylase protein, which are likely secondary to BH4 deficiency. </p><p>There is a 4:1 female predominance in dopa-responsive dystonia. Ichinose et al. (1994) found higher GTP cyclohydrolase I activities in males than in females, a possible explanation for the difference in frequency of the disorder. The diurnal fluctuations that are characteristic of this disorder may be explained by the relatively short half-life of tetrahydrobiopterin. The patients may synthesize tetrahydrobiopterin at a low rate that is not high enough to compensate for the consumption of the cofactor during the day, thus leading to aggravation of symptoms toward evening. </p><p>In a detailed review of the disorder, Segawa et al. (2003) presented neuroimaging, neurophysiologic, and biochemical evidence to confirm the normal preservation of the structure of nigrostriatal dopaminergic neurons. The findings suggested that decreased striatal dopamine and a decreased level of tyrosine hydroxylase is the main pathology of autosomal dominant DRD. </p>
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<strong>Diagnosis</strong>
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<span class="mim-text-font">
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<p>Hyland et al. (1997, 1999) demonstrated that oral phenylalanine loading can identify both symptomatic and asymptomatic carriers of the gene for autosomal dominant GTP cyclohydrolase deficiency. Patients with heterozygous mutations showed significantly increased plasma phenylalanine after loading compared to controls. The findings indicated decreased hepatic PAH (612349) activity due to defective synthesis of BH4 resulting from GCH1 mutations, and suggested that patients with heterozygous mutations can show hyperphenylalaninemia if stressed. </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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</h4>
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<span class="mim-text-font">
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<p>In affected members of 4 families with DRD, Ichinose et al. (1994) identified 4 different mutations in the GCH1 gene (600225.0001-600225.0004). </p><p>In 58 patients with dopa-responsive dystonia, Steinberger et al. (2000) identified mutations in the GCH1 gene in 30 individuals from 22 families. Thirteen of the mutations were familial, 3 occurred de novo, and inheritance could not be determined in 6 cases. Since there was no difference in therapeutic doses of L-DOPA between patients with or without a GCH1 mutation, the authors suggested that the phenotype in those without a GCH1 mutation may be caused by other genes involved in the synthesis of dopamine. </p><p>Hagenah et al. (2005) identified mutations in the GCH1 gene in 20 (87%) of 23 unrelated individuals with dopa-responsive dystonia. Two patients had large deletions of more than 1 exon, which were detected only by quantitative PCR testing. Hagenah et al. (2005) stated that 85 different mutations had been reported in the GCH1 gene. </p><p>Using multiple ligation-dependent probe amplification (MLPA), Steinberger et al. (2007) identified 3 different deletions in the GCH1 gene in multiple affected members of 3 unrelated families with DRD. Previous analysis had excluded single basepair changes in the GCH1 gene. The findings demonstrated that DRD is most likely due to haploinsufficiency of the GCH1 gene, rather than a dominant-negative effect. All patients showed characteristic signs and symptoms of DRD. </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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For discussion of a possible association between DRD and variation in the SOX6 gene, see 607257.0001.</p>
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</span>
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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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Sunohara et al. (1985)
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</span>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<p class="mim-text-font">
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Allen, N., Knopp, W.
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<strong>Hereditary parkinsonism-dystonia with sustained control by L-DOPA and anticholinergic medication.</strong>
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Adv. Neurol. 14: 201-213, 1976.
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Bartholome, K., Dworniczak, B., Ludecke, B.
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<strong>Linkage of the tyrosine hydroxylase gene and Segawa's syndrome. (Abstract)</strong>
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Am. J. Hum. Genet. 53 (suppl.): A889 only, 1993.
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Brique, S., Destee, A., Lambert, J.-C., Mouroux, V., Delacourte, A., Amouyel, P., Chartier-Harlin, M.-C.
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Chaila, E. C., McCabe, D. J. H., Delanty, N., Costello, D. J., Murphy, R. P.
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de Yebenes, J. G., Moskowitz, C., Fahn, S., Saint-Hilaire, M. H.
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<strong>Long-term treatment with levodopa in a family with autosomal dominant torsion dystonia.</strong>
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Fletcher, N. A., Holt, I. J., Harding, A. E., Nygaard, T. G., Mallet, J., Marsden, C. D.
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<strong>Tyrosine hydroxylase and levodopa responsive dystonia.</strong>
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Furukawa, Y., Lang, A. E., Trugman, J. M., Bird, T. D., Hunter, A., Sadeh, M., Tagawa, T., St George-Hyslop, P. H., Guttman, M., Morris, L. W., Hornykiewicz, O., Shimadzu, M., Kish, S. J.
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<strong>Gender-related penetrance and de novo GTP-cyclohydrolase I gene mutations in dopa-responsive dystonia.</strong>
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Furukawa, Y., Nygaard, T. G., Gutlich, M., Rajput, A. H., Pifl, C., DiStefano, L., Chang, L. J., Price, K., Shimadzu, M., Hornykiewicz, O., Haycock, J. W., Kish, S. J.
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<strong>Striatal biopterin and tyrosine hydroxylase protein reduction in dopa-responsive dystonia.</strong>
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Grotzsch, H., Pizzolato, G.-P., Ghika, J., Schorderet, D., Vingerhoets, F. J., Landis, T., Burkhard, P. R.
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<strong>Neuropathology of a case of dopa-responsive dystonia associated with a new genetic locus, DYT14.</strong>
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Hagenah, J., Saunders-Pullman, R., Hedrich, K., Kabakci, K., Habermann, K., Wiegers, K., Mohrmann, K., Lohnau, T., Raymond, D., Vieregge, P., Nygaard, T., Ozelius, L. J., Bressman, S. B., Klein, C.
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<strong>High mutation rate in dopa-responsive dystonia: detection with comprehensive GCH1 screening.</strong>
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Hahn, H., Trant, M. R., Brownstein, M. J., Harper, R. A., Milstien, S., Butler, I. J.
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Harwood, G., Hierons, R., Fletcher, N. A., Marsden, C. D.
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<strong>Lessons from a remarkable family with dopa-responsive dystonia.</strong>
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</p>
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<li>
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<p class="mim-text-font">
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Hyland, K., Fryburg, J. S., Wilson, W. G., Bebin, E. M., Arnold, L. A., Gunasekera, R. S., Jacobson, R. D., Rost-Ruffner, E., Trugman, J. M.
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<strong>Oral phenylalanine loading in dopa-responsive dystonia: a possible diagnostic test.</strong>
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Neurology 48: 1290-1297, 1997.
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[PubMed: 9153460]
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