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<title>
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Entry
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- #180800 - ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA
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- OMIM
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<span class="h4">#180800</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/180800"><strong>Clinical Synopsis</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="#molecularGenetics">Molecular Genetics</a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<div style="display: table-cell;">External Links</div>
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</h4>
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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=(ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA) OR (PMP22 OR MPZ)" class="mim-tip-hint" title="Clinical Trials" 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=2789&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/gtr/all/tests/?term=180800[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=3115" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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</div>
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<span>
|
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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<div 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> 45853006<br />
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<strong>ICD10CM:</strong> G60.0<br />
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<strong>ORPHA:</strong> 3115<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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180800
|
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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>
|
|
<span class="mim-font">
|
|
|
|
ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA
|
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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>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
ROUSSY-LEVY SYNDROME
|
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</span>
|
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</h4>
|
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</div>
|
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</div>
|
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<div>
|
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<br />
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</div>
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</div>
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<div>
|
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
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</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
|
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</th>
|
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<th>
|
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Phenotype
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</th>
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<th>
|
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Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
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Inheritance
|
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</th>
|
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<th>
|
|
Phenotype <br /> mapping key
|
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</th>
|
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<th>
|
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Gene/Locus
|
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</th>
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<th>
|
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Gene/Locus <br /> MIM number
|
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
|
|
<span class="mim-font">
|
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<a href="/geneMap/1/1348?start=-3&limit=10&highlight=1348">
|
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1q23.3
|
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</a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
Roussy-Levy syndrome
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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/180800"> 180800 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
MPZ
|
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/159440"> 159440 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
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|
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/17/244?start=-3&limit=10&highlight=244">
|
|
17p12
|
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</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Roussy-Levy syndrome
|
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|
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
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<a href="/entry/180800"> 180800 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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PMP22
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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/601097"> 601097 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/180800" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/180800" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/180800" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> SKELETAL </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
|
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<em> Spine </em>
|
|
</span>
|
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</div>
|
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
|
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|
|
- Kyphoscoliosis may be present <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854155&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854155</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<em> Feet </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
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|
- 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 /> -
|
|
Hammer toes <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/122481008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">122481008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1136179&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1136179</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001765" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001765</a>]</span><br /> -
|
|
Foot deformities <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/229844004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">229844004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0016506&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0016506</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001760" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001760</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001760" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001760</a>]</span><br />
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|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
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</div>
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Peripheral Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Delayed motor development <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854301&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854301</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001270</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001270</a>]</span><br /> -
|
|
Distal limb muscle weakness due to peripheral neuropathy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1864696&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1864696</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002460" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002460</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002460" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002460</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249942005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249942005</a>]</span><br /> -
|
|
Distal limb muscle atrophy due to peripheral neuropathy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1864697&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1864697</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003693" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003693</a>]</span><br /> -
|
|
Ataxic gait <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 /> -
|
|
Distal sensory impairment <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1847584&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1847584</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002936" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002936</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002936" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002936</a>]</span><br /> -
|
|
Areflexia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/37280007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">37280007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234146&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234146</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001284" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001284</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001284" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001284</a>]</span><br /> -
|
|
Hyporeflexia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/835279003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">835279003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405946002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405946002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0700078&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700078</a>, <a href="https://bioportal.bioontology.org/search?q=C0151888&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151888</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001265" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001265</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001315" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001315</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001265" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001265</a>]</span><br /> -
|
|
Upper limb postural tremor <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1867138&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867138</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007351" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007351</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007351" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007351</a>]</span><br /> -
|
|
Upper limb action tremor <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1867139&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867139</a>]</span><br /> -
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Decreased motor nerve conduction velocity (NCV) (less than 20 m/s) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1867140&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867140</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003431" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003431</a>]</span><br /> -
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Segmental demyelination/remyelination on nerve biopsy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843165&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843165</a>]</span><br /> -
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Decreased number of myelinated fibers <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843185&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843185</a>]</span><br /> -
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Hypertrophic nerve changes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1832776&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1832776</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003382" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003382</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003382" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003382</a>]</span><br /> -
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'Onion bulb' formations may be present <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1867141&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867141</a>]</span><br />
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<strong> IMMUNOLOGY </strong>
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- Foot ulcerations <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95345008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95345008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0085119&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085119</a>]</span><br /> -
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Foot infections leading to amputation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1867142&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867142</a>]</span><br />
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<strong> MISCELLANEOUS </strong>
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- Onset in early childhood<br /> -
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Usually begins in feet and legs (peroneal distribution)<br /> -
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Slowly progressive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854494&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854494</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003677" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003677</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003677" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003677</a>]</span><br /> -
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Allelic disorders with overlapping phenotypes include Charcot-Marie-Tooth disease type 1 (CMT1B, <a href="/entry/118200">118200</a> and CMT1A, <a href="/entry/118220">118220</a>) and Dejerine-Sottas syndrome (DSS, <a href="/entry/145900">145900</a>)<br />
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<strong> MOLECULAR BASIS </strong>
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- Caused by mutation in the myelin protein zero gene (MPZ, <a href="/entry/159440#0021">159440.0021</a>)<br /> -
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Caused by mutation in the peripheral myelin protein-22 gene (PMP22, <a href="/entry/601097#0001">601097.0001</a>)<br />
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because Roussy-Levy syndrome can be caused by heterozygous mutation in the peripheral myelin protein-22 gene (PMP22; <a href="/entry/601097">601097</a>) or the myelin protein zero gene (MPZ; <a href="/entry/159440">159440</a>).</p>
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<strong>Description</strong>
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<p>Roussy-Levy syndrome is an autosomal dominant disorder characterized by early onset of prominent ataxia followed by late onset of mild motor involvement. Symptoms progress very slowly, and affected individuals may remain ambulatory throughout life (<a href="#1" class="mim-tip-reference" title="Auer-Grumbach, M., Strasser-Fuchs, S., Wagner, K., Korner, E., Fazekas, F. <strong>Roussy-Levy syndrome is a phenotypic variant of Charcot-Marie-Tooth syndrome IA associated with a duplication on chromosome 17p11.2.</strong> J. Neurol. Sci. 154: 72-75, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9543325/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9543325</a>] [<a href="https://doi.org/10.1016/s0022-510x(97)00218-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9543325">Auer-Grumbach et al., 1998</a>; <a href="#3" class="mim-tip-reference" title="Plante-Bordeneuve, V., Guiochon-Mantel, A., Lacroix, C., Lapresle, J., Said, G. <strong>The Roussy-Levy family: from the original description to the gene.</strong> Ann. Neurol. 46: 770-773, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10553995/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10553995</a>] [<a href="https://doi.org/10.1002/1531-8249(199911)46:5<770::aid-ana13>3.0.co;2-u" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10553995">Plante-Bordeneuve et al., 1999</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9543325+10553995" 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>The condition was described independently by <a href="#5" class="mim-tip-reference" title="Roussy, G., Levy, G. <strong>Sept cas d'une maladie familiale particulaiere.</strong> Rev. Neurol. 45: 427-450, 1926."None>Roussy and Levy (1926)</a>, by <a href="#8" class="mim-tip-reference" title="Symonds, C. P., Shaw, M. E. <strong>Familial claw-foot with absent tendon jerks.</strong> Brain 49: 387-403, 1926."None>Symonds and Shaw (1926)</a>, who called it 'familial claw-foot with absent tendon jerks', and by <a href="#4" class="mim-tip-reference" title="Rombold, C. R., Riley, H. A. <strong>The abortive type of Friedreich's disease.</strong> Arch. Neurol. Psychiat. 16: 301-312, 1926."None>Rombold and Riley (1926)</a>, who called it an 'abortive type of Friedreich disease' (<a href="/entry/229300">229300</a>). This disorder usually begins in infancy or childhood and manifests as a delay in starting to walk with clumsiness and frequent falls. This condition resembles Charcot-Marie-Tooth disease type 1 (CMT1A; <a href="/entry/118200">118200</a>) in its dominant inheritance, foot deformity, weakness and atrophy of distal limb muscles, especially the peronei, absent tendon reflexes, decreased excitability of muscles to galvanic and faradic stimulation, and some distal sensory loss. The syndrome differs in that it includes static tremor of the upper limbs and gait ataxia. Roussy and Levy (<a href="#5" class="mim-tip-reference" title="Roussy, G., Levy, G. <strong>Sept cas d'une maladie familiale particulaiere.</strong> Rev. Neurol. 45: 427-450, 1926."None>1926</a>, <a href="#6" class="mim-tip-reference" title="Roussy, G., Levy, G. <strong>A propos de la dystasie areflexique hereditaire.</strong> Rev. Neurol. 62: 763-773, 1934."None>1934</a>) stressed the absence of cerebellar signs, speech disturbances, Babinski sign, and nystagmus. Low conduction velocity of peripheral nerves was a striking feature of the cases reported by <a href="#10" class="mim-tip-reference" title="Yudell, A., Dyck, P. J., Lambert, E. H. <strong>A kinship with the Roussy-Levy syndrome.</strong> Arch. Neurol. 13: 432-440, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5834704/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5834704</a>] [<a href="https://doi.org/10.1001/archneur.1965.00470040098016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5834704">Yudell et al. (1965)</a>. <a href="#7" class="mim-tip-reference" title="Rozanski, J. <strong>Hereditary areflexic dystasia: report on a family with Roussy-Levy disease in Israel.</strong> Monatsschr. Psychiatr. Neurol. 122: 141-156, 1951.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14863318/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14863318</a>]" pmid="14863318">Rozanski (1951)</a> described a family with affected members in 4 generations and with several instances of male-to-male transmission. <a href="#2" class="mim-tip-reference" title="Lapresle, J. <strong>Contribution a l'etude de la dystasie areflexique hereditaire. Etat actuel de quatre des sept cas princeps de Roussy et Mlle. Levy, trente ans apres la premiere publication de ces auteurs.</strong> Sem. Hop. Paris 32: 2473-2482, 1956.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13360305/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13360305</a>]" pmid="13360305">Lapresle (1956)</a> gave follow-up information on the family of Roussy and Levy. <a href="#9" class="mim-tip-reference" title="Thomas, P. K., Calne, D. B., Stewart, G. <strong>Hereditary motor and sensory polyneuropathy (peroneal muscular atrophy).</strong> Ann. Hum. Genet. 38: 111, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4467779/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4467779</a>] [<a href="https://doi.org/10.1111/j.1469-1809.1974.tb01945.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4467779">Thomas et al. (1974)</a> noted the clinical overlap of Roussy-Levy syndrome with Charcot-Marie-Tooth disease type 1 and Dejerine-Sottas syndrome (<a href="/entry/145900">145900</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13360305+14863318+5834704+4467779" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="inheritance" class="mim-anchor"></a>
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<strong>Inheritance</strong>
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<p>The transmission pattern of Roussy-Levy syndrome in the families studied by <a href="#1" class="mim-tip-reference" title="Auer-Grumbach, M., Strasser-Fuchs, S., Wagner, K., Korner, E., Fazekas, F. <strong>Roussy-Levy syndrome is a phenotypic variant of Charcot-Marie-Tooth syndrome IA associated with a duplication on chromosome 17p11.2.</strong> J. Neurol. Sci. 154: 72-75, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9543325/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9543325</a>] [<a href="https://doi.org/10.1016/s0022-510x(97)00218-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9543325">Auer-Grumbach et al. (1998)</a> and <a href="#3" class="mim-tip-reference" title="Plante-Bordeneuve, V., Guiochon-Mantel, A., Lacroix, C., Lapresle, J., Said, G. <strong>The Roussy-Levy family: from the original description to the gene.</strong> Ann. Neurol. 46: 770-773, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10553995/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10553995</a>] [<a href="https://doi.org/10.1002/1531-8249(199911)46:5<770::aid-ana13>3.0.co;2-u" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10553995">Plante-Bordeneuve et al. (1999)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9543325+10553995" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="molecularGenetics" class="mim-anchor"></a>
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<strong>Molecular Genetics</strong>
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<p><a href="#1" class="mim-tip-reference" title="Auer-Grumbach, M., Strasser-Fuchs, S., Wagner, K., Korner, E., Fazekas, F. <strong>Roussy-Levy syndrome is a phenotypic variant of Charcot-Marie-Tooth syndrome IA associated with a duplication on chromosome 17p11.2.</strong> J. Neurol. Sci. 154: 72-75, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9543325/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9543325</a>] [<a href="https://doi.org/10.1016/s0022-510x(97)00218-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9543325">Auer-Grumbach et al. (1998)</a> provided evidence suggesting a close relationship between Roussy-Levy syndrome and CMT1A (<a href="/entry/118220">118220</a>). They found that 3 members of a 4-generation family with Roussy-Levy syndrome carried the classic CMT1A PMP22 duplication (<a href="/entry/601097#0001">601097.0001</a>). The etiology of the gait ataxia and essential tremor remained unclear. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9543325" 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 members of the original family studied by <a href="#5" class="mim-tip-reference" title="Roussy, G., Levy, G. <strong>Sept cas d'une maladie familiale particulaiere.</strong> Rev. Neurol. 45: 427-450, 1926."None>Roussy and Levy (1926)</a>, <a href="#3" class="mim-tip-reference" title="Plante-Bordeneuve, V., Guiochon-Mantel, A., Lacroix, C., Lapresle, J., Said, G. <strong>The Roussy-Levy family: from the original description to the gene.</strong> Ann. Neurol. 46: 770-773, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10553995/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10553995</a>] [<a href="https://doi.org/10.1002/1531-8249(199911)46:5<770::aid-ana13>3.0.co;2-u" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10553995">Plante-Bordeneuve et al. (1999)</a> identified a heterozygous mutation in the myelin protein zero gene (<a href="/entry/159440#0021">159440.0021</a>); mutations in this gene are also associated with CMT1B (<a href="/entry/118200">118200</a>). Nerve biopsy of 3 members showed a chronic demyelinating neuropathy with loss of myelinated fibers and focally hypertrophic myelin sheaths. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10553995" 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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<span class="mim-font">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
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<a id="Auer-Grumbach1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Auer-Grumbach, M., Strasser-Fuchs, S., Wagner, K., Korner, E., Fazekas, F.
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<strong>Roussy-Levy syndrome is a phenotypic variant of Charcot-Marie-Tooth syndrome IA associated with a duplication on chromosome 17p11.2.</strong>
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J. Neurol. Sci. 154: 72-75, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9543325/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9543325</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9543325" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0022-510x(97)00218-9" target="_blank">Full Text</a>]
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<a id="2" class="mim-anchor"></a>
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<a id="Lapresle1956" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Lapresle, J.
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<strong>Contribution a l'etude de la dystasie areflexique hereditaire. Etat actuel de quatre des sept cas princeps de Roussy et Mlle. Levy, trente ans apres la premiere publication de ces auteurs.</strong>
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Sem. Hop. Paris 32: 2473-2482, 1956.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13360305/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13360305</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13360305" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="3" class="mim-anchor"></a>
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<a id="Plante-Bordeneuve1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Plante-Bordeneuve, V., Guiochon-Mantel, A., Lacroix, C., Lapresle, J., Said, G.
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<strong>The Roussy-Levy family: from the original description to the gene.</strong>
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Ann. Neurol. 46: 770-773, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10553995/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10553995</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10553995" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/1531-8249(199911)46:5<770::aid-ana13>3.0.co;2-u" target="_blank">Full Text</a>]
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<a id="4" class="mim-anchor"></a>
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<a id="Rombold1926" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Rombold, C. R., Riley, H. A.
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<strong>The abortive type of Friedreich's disease.</strong>
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Arch. Neurol. Psychiat. 16: 301-312, 1926.
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<a id="5" class="mim-anchor"></a>
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<a id="Roussy1926" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Roussy, G., Levy, G.
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<strong>Sept cas d'une maladie familiale particulaiere.</strong>
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Rev. Neurol. 45: 427-450, 1926.
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<a id="6" class="mim-anchor"></a>
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<a id="Roussy1934" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Roussy, G., Levy, G.
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<strong>A propos de la dystasie areflexique hereditaire.</strong>
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Rev. Neurol. 62: 763-773, 1934.
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<a id="Rozanski1951" class="mim-anchor"></a>
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Rozanski, J.
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<strong>Hereditary areflexic dystasia: report on a family with Roussy-Levy disease in Israel.</strong>
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Monatsschr. Psychiatr. Neurol. 122: 141-156, 1951.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14863318/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14863318</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14863318" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="8" class="mim-anchor"></a>
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<a id="Symonds1926" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Symonds, C. P., Shaw, M. E.
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<strong>Familial claw-foot with absent tendon jerks.</strong>
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Brain 49: 387-403, 1926.
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<a id="9" class="mim-anchor"></a>
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<a id="Thomas1974" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Thomas, P. K., Calne, D. B., Stewart, G.
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<strong>Hereditary motor and sensory polyneuropathy (peroneal muscular atrophy).</strong>
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Ann. Hum. Genet. 38: 111, 1974.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4467779/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4467779</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4467779" 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/10.1111/j.1469-1809.1974.tb01945.x" target="_blank">Full Text</a>]
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<a id="10" class="mim-anchor"></a>
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<a id="Yudell1965" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yudell, A., Dyck, P. J., Lambert, E. H.
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<strong>A kinship with the Roussy-Levy syndrome.</strong>
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Arch. Neurol. 13: 432-440, 1965.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5834704/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5834704</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5834704" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1001/archneur.1965.00470040098016" target="_blank">Full Text</a>]
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<span class="mim-text-font">
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Anne M. Stumpf - updated : 04/02/2020
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Cassandra L. Kniffin - reorganized : 4/28/2003<br>Cassandra L. Kniffin - updated : 4/25/2003<br>Ada Hamosh - updated : 6/12/1998
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Victor A. McKusick : 6/2/1986
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carol : 04/03/2020
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alopez : 04/02/2020<br>ckniffin : 04/19/2012<br>carol : 3/23/2012<br>carol : 4/28/2003<br>ckniffin : 4/25/2003<br>ckniffin : 4/25/2003<br>alopez : 6/12/1998<br>mimadm : 3/25/1995<br>davew : 7/18/1994<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/27/1989<br>marie : 3/25/1988
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<strong>#</strong> 180800
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ROUSSY-LEVY SYNDROME
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<strong>SNOMEDCT:</strong> 45853006;
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<strong>ICD10CM:</strong> G60.0;
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<strong>ORPHA:</strong> 3115;
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<strong>Phenotype-Gene Relationships</strong>
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Phenotype
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus <br /> MIM number
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1q23.3
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<span class="mim-font">
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Roussy-Levy syndrome
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<span class="mim-font">
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180800
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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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Autosomal dominant
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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<td>
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<span class="mim-font">
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MPZ
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</td>
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<td>
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<span class="mim-font">
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159440
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<span class="mim-font">
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17p12
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<td>
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<span class="mim-font">
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Roussy-Levy syndrome
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</td>
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<td>
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<span class="mim-font">
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180800
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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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Autosomal dominant
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</td>
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<td>
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<span class="mim-font">
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3
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</td>
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<td>
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<span class="mim-font">
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PMP22
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</td>
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<td>
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<span class="mim-font">
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601097
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</td>
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</tr>
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</tbody>
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</table>
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<span class="mim-font">
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because Roussy-Levy syndrome can be caused by heterozygous mutation in the peripheral myelin protein-22 gene (PMP22; 601097) or the myelin protein zero gene (MPZ; 159440).</p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Roussy-Levy syndrome is an autosomal dominant disorder characterized by early onset of prominent ataxia followed by late onset of mild motor involvement. Symptoms progress very slowly, and affected individuals may remain ambulatory throughout life (Auer-Grumbach et al., 1998; Plante-Bordeneuve et al., 1999). </p>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The condition was described independently by Roussy and Levy (1926), by Symonds and Shaw (1926), who called it 'familial claw-foot with absent tendon jerks', and by Rombold and Riley (1926), who called it an 'abortive type of Friedreich disease' (229300). This disorder usually begins in infancy or childhood and manifests as a delay in starting to walk with clumsiness and frequent falls. This condition resembles Charcot-Marie-Tooth disease type 1 (CMT1A; 118200) in its dominant inheritance, foot deformity, weakness and atrophy of distal limb muscles, especially the peronei, absent tendon reflexes, decreased excitability of muscles to galvanic and faradic stimulation, and some distal sensory loss. The syndrome differs in that it includes static tremor of the upper limbs and gait ataxia. Roussy and Levy (1926, 1934) stressed the absence of cerebellar signs, speech disturbances, Babinski sign, and nystagmus. Low conduction velocity of peripheral nerves was a striking feature of the cases reported by Yudell et al. (1965). Rozanski (1951) described a family with affected members in 4 generations and with several instances of male-to-male transmission. Lapresle (1956) gave follow-up information on the family of Roussy and Levy. Thomas et al. (1974) noted the clinical overlap of Roussy-Levy syndrome with Charcot-Marie-Tooth disease type 1 and Dejerine-Sottas syndrome (145900). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The transmission pattern of Roussy-Levy syndrome in the families studied by Auer-Grumbach et al. (1998) and Plante-Bordeneuve et al. (1999) was consistent with autosomal dominant inheritance. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Auer-Grumbach et al. (1998) provided evidence suggesting a close relationship between Roussy-Levy syndrome and CMT1A (118220). They found that 3 members of a 4-generation family with Roussy-Levy syndrome carried the classic CMT1A PMP22 duplication (601097.0001). The etiology of the gait ataxia and essential tremor remained unclear. </p><p>In members of the original family studied by Roussy and Levy (1926), Plante-Bordeneuve et al. (1999) identified a heterozygous mutation in the myelin protein zero gene (159440.0021); mutations in this gene are also associated with CMT1B (118200). Nerve biopsy of 3 members showed a chronic demyelinating neuropathy with loss of myelinated fibers and focally hypertrophic myelin sheaths. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>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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<li>
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<p class="mim-text-font">
|
|
Auer-Grumbach, M., Strasser-Fuchs, S., Wagner, K., Korner, E., Fazekas, F.
|
|
<strong>Roussy-Levy syndrome is a phenotypic variant of Charcot-Marie-Tooth syndrome IA associated with a duplication on chromosome 17p11.2.</strong>
|
|
J. Neurol. Sci. 154: 72-75, 1998.
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[PubMed: 9543325]
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[Full Text: https://doi.org/10.1016/s0022-510x(97)00218-9]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Lapresle, J.
|
|
<strong>Contribution a l'etude de la dystasie areflexique hereditaire. Etat actuel de quatre des sept cas princeps de Roussy et Mlle. Levy, trente ans apres la premiere publication de ces auteurs.</strong>
|
|
Sem. Hop. Paris 32: 2473-2482, 1956.
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[PubMed: 13360305]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Plante-Bordeneuve, V., Guiochon-Mantel, A., Lacroix, C., Lapresle, J., Said, G.
|
|
<strong>The Roussy-Levy family: from the original description to the gene.</strong>
|
|
Ann. Neurol. 46: 770-773, 1999.
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[PubMed: 10553995]
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[Full Text: https://doi.org/10.1002/1531-8249(199911)46:5<770::aid-ana13>3.0.co;2-u]
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</p>
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</li>
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<li>
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|
<p class="mim-text-font">
|
|
Rombold, C. R., Riley, H. A.
|
|
<strong>The abortive type of Friedreich's disease.</strong>
|
|
Arch. Neurol. Psychiat. 16: 301-312, 1926.
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
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|
Roussy, G., Levy, G.
|
|
<strong>Sept cas d'une maladie familiale particulaiere.</strong>
|
|
Rev. Neurol. 45: 427-450, 1926.
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Roussy, G., Levy, G.
|
|
<strong>A propos de la dystasie areflexique hereditaire.</strong>
|
|
Rev. Neurol. 62: 763-773, 1934.
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Rozanski, J.
|
|
<strong>Hereditary areflexic dystasia: report on a family with Roussy-Levy disease in Israel.</strong>
|
|
Monatsschr. Psychiatr. Neurol. 122: 141-156, 1951.
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[PubMed: 14863318]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Symonds, C. P., Shaw, M. E.
|
|
<strong>Familial claw-foot with absent tendon jerks.</strong>
|
|
Brain 49: 387-403, 1926.
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|
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Thomas, P. K., Calne, D. B., Stewart, G.
|
|
<strong>Hereditary motor and sensory polyneuropathy (peroneal muscular atrophy).</strong>
|
|
Ann. Hum. Genet. 38: 111, 1974.
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[PubMed: 4467779]
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[Full Text: https://doi.org/10.1111/j.1469-1809.1974.tb01945.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Yudell, A., Dyck, P. J., Lambert, E. H.
|
|
<strong>A kinship with the Roussy-Levy syndrome.</strong>
|
|
Arch. Neurol. 13: 432-440, 1965.
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[PubMed: 5834704]
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[Full Text: https://doi.org/10.1001/archneur.1965.00470040098016]
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</p>
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</li>
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</ol>
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<div>
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<br />
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Contributors:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Anne M. Stumpf - updated : 04/02/2020<br>Cassandra L. Kniffin - reorganized : 4/28/2003<br>Cassandra L. Kniffin - updated : 4/25/2003<br>Ada Hamosh - updated : 6/12/1998
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/2/1986
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carol : 04/03/2020<br>alopez : 04/02/2020<br>ckniffin : 04/19/2012<br>carol : 3/23/2012<br>carol : 4/28/2003<br>ckniffin : 4/25/2003<br>ckniffin : 4/25/2003<br>alopez : 6/12/1998<br>mimadm : 3/25/1995<br>davew : 7/18/1994<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/27/1989<br>marie : 3/25/1988
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