2543 lines
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Entry
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- #607225 - SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING; IAHSP
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- OMIM
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<p>
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<span class="h4">#607225</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/607225"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#mapping">Mapping</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></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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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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<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 id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div><a href="https://clinicaltrials.gov/search?cond=SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING" 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=20839&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/NBK1243/" 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/3819" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/infantile-onset-ascending-hereditary-spastic-paralysis" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=607225[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=293168" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</div>
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<div>
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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> 703543005<br />
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<strong>ORPHA:</strong> 293168<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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607225
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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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SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING; IAHSP
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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="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/2/921?start=-3&limit=10&highlight=921">
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2q33.1
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Spastic paralysis, infantile onset ascending
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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/607225"> 607225 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</td>
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<td>
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<span class="mim-font">
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ALS2
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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/606352"> 606352 </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/607225" 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/607225" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/607225" 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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<p />
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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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<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 recessive <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 />
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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">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
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<div>
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<span class="h5 mim-font">
|
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<em> Face </em>
|
|
</span>
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</div>
|
|
<div style="margin-left: 2em;">
|
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<span class="mim-font">
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|
- Weakness of the facial muscles <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95666008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95666008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R29.810" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R29.810</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.83" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.83</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/781.94" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">781.94</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0427055&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0427055</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007209" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007209</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0030319" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030319</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>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Slow eye movements (onset in second decade) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1846600&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1846600</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/404686001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">404686001</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000514" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000514</a>]</span><br /> -
|
|
Ocular gaze palsies (onset in second decade) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1846601&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1846601</a>]</span><br />
|
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|
|
</span>
|
|
</div>
|
|
</div>
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|
|
</div>
|
|
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|
</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Gastrointestinal </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Dysphagia (onset in second decade) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1846599&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1846599</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/288939007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">288939007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/40739000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">40739000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R13.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R13.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R13.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R13.10</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/787.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">787.2</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/787.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">787.20</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002015" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002015</a>]</span><br /> -
|
|
Chewing difficulties <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/162020001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">162020001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239043&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239043</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005216" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005216</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005216" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005216</a>]</span><br /> -
|
|
Bowel incontinence <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/72042002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">72042002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R15.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R15.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R15" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R15</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/787.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">787.6</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015732&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015732</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002607" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002607</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002607" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002607</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Bladder </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Urinary incontinence <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/165232002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">165232002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R32" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R32</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/788.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">788.30</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/788.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">788.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0042024&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0042024</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000020" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000020</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000020" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000020</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 (less common) <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> Feet </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Shortening of the Achilles tendon <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/203076007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">203076007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0410264&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0410264</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001771" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001771</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001771" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001771</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 />
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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> MUSCLE, SOFT TISSUES </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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|
- Muscle weakness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26544005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26544005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151786&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151786</a>, <a href="https://bioportal.bioontology.org/search?q=C0030552&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0030552</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001324" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001324</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001324" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001324</a>]</span><br /> -
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Normal muscle biopsy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0853440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0853440</a>]</span><br /> -
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Reduction of voluntary recruitment seen on EMG <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5232655&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5232655</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> NEUROLOGIC </strong>
|
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Central Nervous System </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Upper and lower motor neuron degeneration <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3807654&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3807654</a>]</span><br /> -
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Spastic paraplegia, lower limb <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/192967009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">192967009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0037772&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0037772</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001258" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001258</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001258" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001258</a>]</span><br /> -
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Stiffness of the lower limbs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1846590&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1846590</a>]</span><br /> -
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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 /> -
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|
Loss of motor milestones <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3807655&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3807655</a>]</span><br /> -
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|
Upper limb involvement (onset in the first decade) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1846591&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1846591</a>]</span><br /> -
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|
Spastic tetraplegia (onset in the second decade) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1846592&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1846592</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/192965001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">192965001</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002510</a>]</span><br /> -
|
|
Bulbar involvement <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3807656&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3807656</a>]</span><br /> -
|
|
Dysarthria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8011004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8011004</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.13" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.13</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/784.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">784.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001260</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001260</a>]</span><br /> -
|
|
Anarthria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48257004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48257004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1045276&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1045276</a>, <a href="https://bioportal.bioontology.org/search?q=C0234517&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234517</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002425" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002425</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002425" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002425</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 /> -
|
|
Early involvement of the corticospinal pathways <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1846593&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1846593</a>]</span><br /> -
|
|
Weakness of the facial muscles <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95666008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95666008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R29.810" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R29.810</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.83" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.83</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/781.94" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">781.94</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0427055&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0427055</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007209" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007209</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0030319" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030319</a>]</span><br /> -
|
|
Normal cognition and intellectual function <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1846595&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1846595</a>]</span><br /> -
|
|
Atrophy of the motor cortex in older patients seen on MRI <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3807657&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3807657</a>]</span><br /> -
|
|
T2-weighted hyperintensities in the corticospinal tracts and posterior arms of the internal capsule in older patients seen on MRI <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3807658&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3807658</a>]</span><br /> -
|
|
Decreased or absent motor evoked potentials (MEP), indicating dysfunction of the corticospinal tracts <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1846598&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1846598</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> MISCELLANEOUS </strong>
|
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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|
- Onset within first 2 years of life<br /> -
|
|
Progressive disorder <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1864985&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1864985</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003676" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003676</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003676" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003676</a>]</span><br /> -
|
|
Some patients never achieve walking or running<br /> -
|
|
Most patients become wheelchair-bound <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1846606&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1846606</a>]</span><br /> -
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Allelic disorder to juvenile-onset amyotrophic lateral sclerosis (ALS2, <a href="/entry/205100">205100</a>)<br /> -
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Allelic disorder to juvenile primary lateral sclerosis (PLSJ, <a href="/entry/606353">606353</a>)<br />
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- Caused by mutation in the alsin Rho guanine nucleotide exchange factor ALS2 gene (ALS2, <a href="/entry/606352#0005">606352.0005</a>)<br />
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<p>A number sign (#) is used with this entry because of evidence that a subset of infantile-onset ascending hereditary spastic paralysis (IAHSP) is caused by homozygous or compound heterozygous mutation in the alsin gene (ALS2; <a href="/entry/606352">606352</a>) on chromosome 2q33.</p><p>Mutations in the same gene cause juvenile amyotrophic lateral sclerosis (<a href="/entry/205100">205100</a>) and juvenile primary lateral sclerosis (<a href="/entry/606353">606353</a>).</p>
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<p>Infantile-onset ascending hereditary spastic paralysis (IAHSP) is an autosomal recessive neurodegenerative disorder characterized by onset in the first years of life of progressive upper and lower motor neuron degeneration resulting in loss of ability to walk in childhood. It initially affects the lower limbs and then ascends to the upper limbs and bulbar muscles, causing dysarthria and dysphagia. Cognition is unaffected (summary by <a href="#8" class="mim-tip-reference" title="Wakil, S. M., Ramzan, K., Abuthuraya, R., Hagos, S., Al-Dossari, H., Al-Omar, R., Murad, H., Chedrawi, A., Al-Hassnan, Z. N., Finsterer, J., Bohlega, S. <strong>Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C-T.</strong> Gene 536: 217-220, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24315819/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24315819</a>] [<a href="https://doi.org/10.1016/j.gene.2013.11.043" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24315819">Wakil et al., 2014</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24315819" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Eymard-Pierre, E., Lesca, G., Dollet, S., Santorelli, F. M., di Capua, M., Bertini, E., Boespflug-Tanguy, O. <strong>Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene.</strong> Am. J. Hum. Genet. 71: 518-527, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12145748/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12145748</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12145748[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/10.1086/342359" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12145748">Eymard-Pierre et al. (2002)</a> studied 15 patients from 10 families who presented with severe spastic paralysis with an infantile onset and an ascending progression. Spastic paraplegia began during the first 2 years of life and extended to upper limbs within the next few years. During the first decade of life, the disease progressed to tetraplegia, anarthria, dysphagia, and slow eye movements. Overall, however, the disease was compatible with long survival. Signs of lower motor neuron involvement were never observed, whereas motor-evoked potentials and magnetic resonance imaging demonstrated a primitive, pure degeneration of the upper motor neurons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12145748" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Lesca, G., Eymard-Pierre, E., Santorelli, F. M., Cusmai, R., Di Capua, M., Valente, E. M., Attia-Sobol, J., Plauchu, H., Leuzzi, V., Ponzone, A., Boespflug-Tanguy, O., Bertini, E. <strong>Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families.</strong> Neurology 60: 674-682, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12601111/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12601111</a>] [<a href="https://doi.org/10.1212/01.wnl.0000048207.28790.25" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12601111">Lesca et al. (2003)</a> provided further clinical information on the 10 families reported by <a href="#1" class="mim-tip-reference" title="Eymard-Pierre, E., Lesca, G., Dollet, S., Santorelli, F. M., di Capua, M., Bertini, E., Boespflug-Tanguy, O. <strong>Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene.</strong> Am. J. Hum. Genet. 71: 518-527, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12145748/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12145748</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12145748[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/10.1086/342359" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12145748">Eymard-Pierre et al. (2002)</a> and 1 additional family. All patients had normal intellectual function. Many patients became wheelchair-bound in the second decade, and in 1 family, affected members never achieved walking or running. All patients developed upper limb and bulbar involvement. Motor evoked potentials demonstrated a severe dysfunction of the corticospinal tracts. Brain MRI was normal in young patients. MRI in the oldest patients showed brain cortical atrophy, predominantly in the motor areas, and T2-weighted bilateral hyperintense signals in the posterior arms of the internal capsule and brainstem. EMG and muscle biopsies were normal in all patients, excluding involvement of the lower motor neurons. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12145748+12601111" 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="Gros-Louis, F., Meijer, I. A., Hand, C. K., Dube, M.-P., MacGregor, D. L., Seni, M.-H., Devon, R. S., Hayden, M. R., Andermann, F., Andermann, E., Rouleau, G. A. <strong>An ALS2 gene mutation causes hereditary spastic paraplegia in a Pakistani kindred. (Letter)</strong> Ann. Neurol. 53: 144-145, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12509863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12509863</a>] [<a href="https://doi.org/10.1002/ana.10422" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12509863">Gros-Louis et al. (2003)</a> reported a large consanguineous Pakistani family with infantile-onset complicated spastic paraparesis. The proband presented with gait disturbance and hyperreflexia at 18 months and was anarthric and wheelchair-bound by age 12 years. Family history indicated that the disease slowly progressed to tetraplegia and death by the fourth decade, with relatively preserved intellect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12509863" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Sztriha, L., Panzeri, C., Kalmanchey, R., Szabo, N., Endreffy, E., Turi, S., Baschirotto, C., Bresolin, N., Vekerdy, Z., Bassi, M. T. <strong>First case of compound heterozygosity in ALS2 gene in infantile-onset ascending spastic paralysis with bulbar involvement. (Letter)</strong> Clin. Genet. 73: 591-593, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18394004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18394004</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2008.00993.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18394004">Sztriha et al. (2008)</a> reported 2 Hungarian sisters, born to healthy nonconsanguineous parents, with IAHSP resulting from compound heterozygous truncating mutations in the ALS2 gene. Both patients had a severe form of the disorder with early onset, inability to walk, and bulbar palsy with drooling, dysphagia, and dysarthria. Both became wheelchair-bound in the first decade of life. Intellect was normal. The authors noted that the absence of consanguinity in a family should not exclude a diagnosis of IAHSP. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18394004" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Wakil, S. M., Ramzan, K., Abuthuraya, R., Hagos, S., Al-Dossari, H., Al-Omar, R., Murad, H., Chedrawi, A., Al-Hassnan, Z. N., Finsterer, J., Bohlega, S. <strong>Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C-T.</strong> Gene 536: 217-220, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24315819/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24315819</a>] [<a href="https://doi.org/10.1016/j.gene.2013.11.043" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24315819">Wakil et al. (2014)</a> reported 2 sibs, born of consanguineous Saudi parents, with IAHSP. After normal early development, both patients developed progressive spastic paraplegia around the age of walking and became wheelchair-bound in mid-childhood. Other features included spastic anarthria and swallowing difficulties; cognition was normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24315819" 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>Genotyping and linkage analyses by <a href="#1" class="mim-tip-reference" title="Eymard-Pierre, E., Lesca, G., Dollet, S., Santorelli, F. M., di Capua, M., Bertini, E., Boespflug-Tanguy, O. <strong>Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene.</strong> Am. J. Hum. Genet. 71: 518-527, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12145748/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12145748</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12145748[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/10.1086/342359" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12145748">Eymard-Pierre et al. (2002)</a> demonstrated that infantile-onset ascending hereditary spastic paralysis is allelic to the condition previously reported as juvenile amyotrophic lateral sclerosis at the ALS2 locus on 2q33-q35 (<a href="/entry/205100">205100</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12145748" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of IAHSP in the families reported by <a href="#1" class="mim-tip-reference" title="Eymard-Pierre, E., Lesca, G., Dollet, S., Santorelli, F. M., di Capua, M., Bertini, E., Boespflug-Tanguy, O. <strong>Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene.</strong> Am. J. Hum. Genet. 71: 518-527, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12145748/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12145748</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12145748[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/10.1086/342359" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12145748">Eymard-Pierre et al. (2002)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12145748" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Eymard-Pierre, E., Lesca, G., Dollet, S., Santorelli, F. M., di Capua, M., Bertini, E., Boespflug-Tanguy, O. <strong>Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene.</strong> Am. J. Hum. Genet. 71: 518-527, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12145748/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12145748</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12145748[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/10.1086/342359" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12145748">Eymard-Pierre et al. (2002)</a> performed mutation analysis on 15 patients with IAHSP from 10 unrelated families of different ethnic origins. They demonstrated homozygous truncation mutations in the ALS2 gene in 4 of the 10 families (<a href="/entry/606352#0005">606352.0005</a>-<a href="/entry/606352#0008">606352.0008</a>). Mutations in regulatory ALS2 regions or genetic heterogeneity was suspected as the explanation for the failure to find ALS2 mutation in the other 6 families. The discovery of these alsin mutations responsible for a primitive, retrograde degeneration of the upper motor neurons of the pyramidal tracts revealed a clinical continuum from infantile (IAHSP) to juvenile forms with (ALS2) or without (juvenile-onset primary lateral sclerosis; JPLS) lower motor neuron involvement. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12145748" 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 large Pakistani family with IAHSP, <a href="#3" class="mim-tip-reference" title="Gros-Louis, F., Meijer, I. A., Hand, C. K., Dube, M.-P., MacGregor, D. L., Seni, M.-H., Devon, R. S., Hayden, M. R., Andermann, F., Andermann, E., Rouleau, G. A. <strong>An ALS2 gene mutation causes hereditary spastic paraplegia in a Pakistani kindred. (Letter)</strong> Ann. Neurol. 53: 144-145, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12509863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12509863</a>] [<a href="https://doi.org/10.1002/ana.10422" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12509863">Gros-Louis et al. (2003)</a> identified a 1-bp deletion in the ALS2 gene (<a href="/entry/606352#0009">606352.0009</a>) that segregated with the disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12509863" 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 2 affected sisters with IAHSP, born of consanguineous Turkish parents, <a href="#2" class="mim-tip-reference" title="Eymard-Pierre, E., Yamanaka, K., Haeussler, M., Kress, W., Gauthier-Barichard, F., Combes, P., Cleveland, D. W., Boespflug-Tanguy, O. <strong>Novel missense mutation in ALS2 gene results in infantile ascending hereditary spastic paralysis.</strong> Ann. Neurol. 59: 976-980, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16718699/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16718699</a>] [<a href="https://doi.org/10.1002/ana.20879" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16718699">Eymard-Pierre et al. (2006)</a> identified a homozygous missense mutation in the ALS2 gene (C156Y; <a href="/entry/606352#0012">606352.0012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16718699" 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 2 Hungarian sisters, born to healthy nonconsanguineous parents, with severe IAHSP, <a href="#6" class="mim-tip-reference" title="Sztriha, L., Panzeri, C., Kalmanchey, R., Szabo, N., Endreffy, E., Turi, S., Baschirotto, C., Bresolin, N., Vekerdy, Z., Bassi, M. T. <strong>First case of compound heterozygosity in ALS2 gene in infantile-onset ascending spastic paralysis with bulbar involvement. (Letter)</strong> Clin. Genet. 73: 591-593, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18394004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18394004</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2008.00993.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18394004">Sztriha et al. (2008)</a> identified compound heterozygous mutations in the ALS2 gene: a 5-bp insertion (c.1825_1826insCAGTG) and a nonsense mutation (c.3529G-T), both leading to the creation of premature stop codons (E609fsTer9, G1177X, respectively). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18394004" 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 2 Dutch sibs, born of consanguineous parents, with IAHSP, <a href="#7" class="mim-tip-reference" title="Verschuuren-Bemelmans, C. C., Winter, P., Sival, D. A., Elting, J.-W., Brouwer, O. F., Muller, U. <strong>Novel homozygous ALS2 nonsense mutation (p.Gln715X) in sibs with infantile-onset ascending spastic paralysis: the first cases from northwestern Europe.</strong> Europ. J. Hum. Genet. 16: 1407-1411, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18523452/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18523452</a>] [<a href="https://doi.org/10.1038/ejhg.2008.108" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18523452">Verschuuren-Bemelmans et al. (2008)</a> identified a homozygous nonsense mutation in the ALS2 gene (Q715X; <a href="/entry/606352#0014">606352.0014</a>). The unaffected parents were heterozygous for the mutation. The phenotype was severe, including lack of bladder or bowel control. The parents were descended from a common ancestor who lived during the 18th century in the province of Friesland, in the northern part of the Netherlands. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18523452" 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="Herzfeld, T., Wolf, N., Winter, P., Hackstein, H., Vater, D., Muller, U. <strong>Maternal uniparental heterodisomy with partial isodisomy of a chromosome 2 carrying a splice acceptor site mutation (IVS9-2A-T) in ALS2 causes infantile-onset ascending spastic paralysis (IAHSP).</strong> Neurogenetics 10: 59-64, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18810511/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18810511</a>] [<a href="https://doi.org/10.1007/s10048-008-0148-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18810511">Herzfeld et al. (2009)</a> reported a German patient with IAHSP associated with a homozygous splice site mutation in the ALS2 gene that was found to result from maternal uniparental disomy with partial isodisomy of chromosome 2q31-q37 that carried the ALS2 mutation. The findings could be explained by at least 4 recombination events during maternal meiosis, followed by a meiosis I error and postzygotic trisomy rescue or gamete complementation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18810511" 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 2 sibs, born of consanguineous Saudi parents, with IAHSP, <a href="#8" class="mim-tip-reference" title="Wakil, S. M., Ramzan, K., Abuthuraya, R., Hagos, S., Al-Dossari, H., Al-Omar, R., Murad, H., Chedrawi, A., Al-Hassnan, Z. N., Finsterer, J., Bohlega, S. <strong>Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C-T.</strong> Gene 536: 217-220, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24315819/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24315819</a>] [<a href="https://doi.org/10.1016/j.gene.2013.11.043" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24315819">Wakil et al. (2014)</a> identified a homozygous nonsense mutation in the ALS2 gene (R921X; <a href="/entry/606352#0015">606352.0015</a>). The mutation, which was found by homozygosity mapping and candidate gene sequencing, segregated with the disorder in the family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24315819" 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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Eymard-Pierre, E., Lesca, G., Dollet, S., Santorelli, F. M., di Capua, M., Bertini, E., Boespflug-Tanguy, O.
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<strong>Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene.</strong>
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Am. J. Hum. Genet. 71: 518-527, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12145748/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12145748</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12145748[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=12145748" 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/10.1086/342359" target="_blank">Full Text</a>]
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Eymard-Pierre, E., Yamanaka, K., Haeussler, M., Kress, W., Gauthier-Barichard, F., Combes, P., Cleveland, D. W., Boespflug-Tanguy, O.
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<strong>Novel missense mutation in ALS2 gene results in infantile ascending hereditary spastic paralysis.</strong>
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Ann. Neurol. 59: 976-980, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16718699/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16718699</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16718699" 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.20879" target="_blank">Full Text</a>]
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Gros-Louis, F., Meijer, I. A., Hand, C. K., Dube, M.-P., MacGregor, D. L., Seni, M.-H., Devon, R. S., Hayden, M. R., Andermann, F., Andermann, E., Rouleau, G. A.
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<strong>An ALS2 gene mutation causes hereditary spastic paraplegia in a Pakistani kindred. (Letter)</strong>
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Ann. Neurol. 53: 144-145, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12509863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12509863</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12509863" 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.10422" target="_blank">Full Text</a>]
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Herzfeld, T., Wolf, N., Winter, P., Hackstein, H., Vater, D., Muller, U.
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<strong>Maternal uniparental heterodisomy with partial isodisomy of a chromosome 2 carrying a splice acceptor site mutation (IVS9-2A-T) in ALS2 causes infantile-onset ascending spastic paralysis (IAHSP).</strong>
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Neurogenetics 10: 59-64, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18810511/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18810511</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18810511" 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/s10048-008-0148-y" target="_blank">Full Text</a>]
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Lesca, G., Eymard-Pierre, E., Santorelli, F. M., Cusmai, R., Di Capua, M., Valente, E. M., Attia-Sobol, J., Plauchu, H., Leuzzi, V., Ponzone, A., Boespflug-Tanguy, O., Bertini, E.
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<strong>Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families.</strong>
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Neurology 60: 674-682, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12601111/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12601111</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12601111" 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.0000048207.28790.25" target="_blank">Full Text</a>]
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Sztriha, L., Panzeri, C., Kalmanchey, R., Szabo, N., Endreffy, E., Turi, S., Baschirotto, C., Bresolin, N., Vekerdy, Z., Bassi, M. T.
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<strong>First case of compound heterozygosity in ALS2 gene in infantile-onset ascending spastic paralysis with bulbar involvement. (Letter)</strong>
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Clin. Genet. 73: 591-593, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18394004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18394004</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18394004" 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.1399-0004.2008.00993.x" target="_blank">Full Text</a>]
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Verschuuren-Bemelmans, C. C., Winter, P., Sival, D. A., Elting, J.-W., Brouwer, O. F., Muller, U.
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<strong>Novel homozygous ALS2 nonsense mutation (p.Gln715X) in sibs with infantile-onset ascending spastic paralysis: the first cases from northwestern Europe.</strong>
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Europ. J. Hum. Genet. 16: 1407-1411, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18523452/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18523452</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18523452" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ejhg.2008.108" target="_blank">Full Text</a>]
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Wakil, S. M., Ramzan, K., Abuthuraya, R., Hagos, S., Al-Dossari, H., Al-Omar, R., Murad, H., Chedrawi, A., Al-Hassnan, Z. N., Finsterer, J., Bohlega, S.
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<strong>Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C-T.</strong>
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Gene 536: 217-220, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24315819/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24315819</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24315819" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.gene.2013.11.043" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 2/19/2014
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Cassandra L. Kniffin - updated : 8/31/2009<br>Cassandra L. Kniffin - updated : 4/10/2009<br>Cassandra L. Kniffin - updated : 3/25/2009<br>Cassandra L. Kniffin - updated : 9/18/2007<br>Cassandra L. Kniffin - updated : 11/21/2005<br>Cassandra L. Kniffin - updated : 5/27/2003
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Victor A. McKusick : 9/17/2002
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carol : 11/08/2023
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carol : 10/17/2023<br>carol : 02/21/2014<br>mcolton : 2/20/2014<br>ckniffin : 2/19/2014<br>carol : 9/17/2013<br>wwang : 9/16/2009<br>ckniffin : 8/31/2009<br>wwang : 4/20/2009<br>ckniffin : 4/10/2009<br>wwang : 4/10/2009<br>ckniffin : 3/25/2009<br>wwang : 9/25/2007<br>ckniffin : 9/18/2007<br>wwang : 11/28/2005<br>ckniffin : 11/21/2005<br>tkritzer : 6/9/2003<br>ckniffin : 5/27/2003<br>alopez : 9/18/2002<br>carol : 9/17/2002
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<strong>#</strong> 607225
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SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING; IAHSP
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<strong>SNOMEDCT:</strong> 703543005;
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<strong>ORPHA:</strong> 293168;
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<strong>Phenotype-Gene Relationships</strong>
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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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2q33.1
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Spastic paralysis, infantile onset ascending
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607225
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Autosomal recessive
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3
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ALS2
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606352
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<p>A number sign (#) is used with this entry because of evidence that a subset of infantile-onset ascending hereditary spastic paralysis (IAHSP) is caused by homozygous or compound heterozygous mutation in the alsin gene (ALS2; 606352) on chromosome 2q33.</p><p>Mutations in the same gene cause juvenile amyotrophic lateral sclerosis (205100) and juvenile primary lateral sclerosis (606353).</p>
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<strong>Description</strong>
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<p>Infantile-onset ascending hereditary spastic paralysis (IAHSP) is an autosomal recessive neurodegenerative disorder characterized by onset in the first years of life of progressive upper and lower motor neuron degeneration resulting in loss of ability to walk in childhood. It initially affects the lower limbs and then ascends to the upper limbs and bulbar muscles, causing dysarthria and dysphagia. Cognition is unaffected (summary by Wakil et al., 2014). </p>
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<strong>Clinical Features</strong>
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<p>Eymard-Pierre et al. (2002) studied 15 patients from 10 families who presented with severe spastic paralysis with an infantile onset and an ascending progression. Spastic paraplegia began during the first 2 years of life and extended to upper limbs within the next few years. During the first decade of life, the disease progressed to tetraplegia, anarthria, dysphagia, and slow eye movements. Overall, however, the disease was compatible with long survival. Signs of lower motor neuron involvement were never observed, whereas motor-evoked potentials and magnetic resonance imaging demonstrated a primitive, pure degeneration of the upper motor neurons. </p><p>Lesca et al. (2003) provided further clinical information on the 10 families reported by Eymard-Pierre et al. (2002) and 1 additional family. All patients had normal intellectual function. Many patients became wheelchair-bound in the second decade, and in 1 family, affected members never achieved walking or running. All patients developed upper limb and bulbar involvement. Motor evoked potentials demonstrated a severe dysfunction of the corticospinal tracts. Brain MRI was normal in young patients. MRI in the oldest patients showed brain cortical atrophy, predominantly in the motor areas, and T2-weighted bilateral hyperintense signals in the posterior arms of the internal capsule and brainstem. EMG and muscle biopsies were normal in all patients, excluding involvement of the lower motor neurons. </p><p>Gros-Louis et al. (2003) reported a large consanguineous Pakistani family with infantile-onset complicated spastic paraparesis. The proband presented with gait disturbance and hyperreflexia at 18 months and was anarthric and wheelchair-bound by age 12 years. Family history indicated that the disease slowly progressed to tetraplegia and death by the fourth decade, with relatively preserved intellect. </p><p>Sztriha et al. (2008) reported 2 Hungarian sisters, born to healthy nonconsanguineous parents, with IAHSP resulting from compound heterozygous truncating mutations in the ALS2 gene. Both patients had a severe form of the disorder with early onset, inability to walk, and bulbar palsy with drooling, dysphagia, and dysarthria. Both became wheelchair-bound in the first decade of life. Intellect was normal. The authors noted that the absence of consanguinity in a family should not exclude a diagnosis of IAHSP. </p><p>Wakil et al. (2014) reported 2 sibs, born of consanguineous Saudi parents, with IAHSP. After normal early development, both patients developed progressive spastic paraplegia around the age of walking and became wheelchair-bound in mid-childhood. Other features included spastic anarthria and swallowing difficulties; cognition was normal. </p>
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<strong>Mapping</strong>
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<p>Genotyping and linkage analyses by Eymard-Pierre et al. (2002) demonstrated that infantile-onset ascending hereditary spastic paralysis is allelic to the condition previously reported as juvenile amyotrophic lateral sclerosis at the ALS2 locus on 2q33-q35 (205100). </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of IAHSP in the families reported by Eymard-Pierre et al. (2002) was consistent with autosomal recessive inheritance. </p>
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<strong>Molecular Genetics</strong>
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<p>Eymard-Pierre et al. (2002) performed mutation analysis on 15 patients with IAHSP from 10 unrelated families of different ethnic origins. They demonstrated homozygous truncation mutations in the ALS2 gene in 4 of the 10 families (606352.0005-606352.0008). Mutations in regulatory ALS2 regions or genetic heterogeneity was suspected as the explanation for the failure to find ALS2 mutation in the other 6 families. The discovery of these alsin mutations responsible for a primitive, retrograde degeneration of the upper motor neurons of the pyramidal tracts revealed a clinical continuum from infantile (IAHSP) to juvenile forms with (ALS2) or without (juvenile-onset primary lateral sclerosis; JPLS) lower motor neuron involvement. </p><p>In a large Pakistani family with IAHSP, Gros-Louis et al. (2003) identified a 1-bp deletion in the ALS2 gene (606352.0009) that segregated with the disease. </p><p>In 2 affected sisters with IAHSP, born of consanguineous Turkish parents, Eymard-Pierre et al. (2006) identified a homozygous missense mutation in the ALS2 gene (C156Y; 606352.0012). </p><p>In 2 Hungarian sisters, born to healthy nonconsanguineous parents, with severe IAHSP, Sztriha et al. (2008) identified compound heterozygous mutations in the ALS2 gene: a 5-bp insertion (c.1825_1826insCAGTG) and a nonsense mutation (c.3529G-T), both leading to the creation of premature stop codons (E609fsTer9, G1177X, respectively). </p><p>In 2 Dutch sibs, born of consanguineous parents, with IAHSP, Verschuuren-Bemelmans et al. (2008) identified a homozygous nonsense mutation in the ALS2 gene (Q715X; 606352.0014). The unaffected parents were heterozygous for the mutation. The phenotype was severe, including lack of bladder or bowel control. The parents were descended from a common ancestor who lived during the 18th century in the province of Friesland, in the northern part of the Netherlands. </p><p>Herzfeld et al. (2009) reported a German patient with IAHSP associated with a homozygous splice site mutation in the ALS2 gene that was found to result from maternal uniparental disomy with partial isodisomy of chromosome 2q31-q37 that carried the ALS2 mutation. The findings could be explained by at least 4 recombination events during maternal meiosis, followed by a meiosis I error and postzygotic trisomy rescue or gamete complementation. </p><p>In 2 sibs, born of consanguineous Saudi parents, with IAHSP, Wakil et al. (2014) identified a homozygous nonsense mutation in the ALS2 gene (R921X; 606352.0015). The mutation, which was found by homozygosity mapping and candidate gene sequencing, segregated with the disorder in the family. </p>
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<strong>REFERENCES</strong>
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Eymard-Pierre, E., Lesca, G., Dollet, S., Santorelli, F. M., di Capua, M., Bertini, E., Boespflug-Tanguy, O.
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<strong>Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene.</strong>
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Am. J. Hum. Genet. 71: 518-527, 2002.
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[PubMed: 12145748]
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[Full Text: https://doi.org/10.1086/342359]
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Eymard-Pierre, E., Yamanaka, K., Haeussler, M., Kress, W., Gauthier-Barichard, F., Combes, P., Cleveland, D. W., Boespflug-Tanguy, O.
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<strong>Novel missense mutation in ALS2 gene results in infantile ascending hereditary spastic paralysis.</strong>
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Ann. Neurol. 59: 976-980, 2006.
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[PubMed: 16718699]
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[Full Text: https://doi.org/10.1002/ana.20879]
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Gros-Louis, F., Meijer, I. A., Hand, C. K., Dube, M.-P., MacGregor, D. L., Seni, M.-H., Devon, R. S., Hayden, M. R., Andermann, F., Andermann, E., Rouleau, G. A.
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<strong>An ALS2 gene mutation causes hereditary spastic paraplegia in a Pakistani kindred. (Letter)</strong>
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Ann. Neurol. 53: 144-145, 2003.
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[PubMed: 12509863]
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[Full Text: https://doi.org/10.1002/ana.10422]
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Herzfeld, T., Wolf, N., Winter, P., Hackstein, H., Vater, D., Muller, U.
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<strong>Maternal uniparental heterodisomy with partial isodisomy of a chromosome 2 carrying a splice acceptor site mutation (IVS9-2A-T) in ALS2 causes infantile-onset ascending spastic paralysis (IAHSP).</strong>
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Neurogenetics 10: 59-64, 2009.
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[PubMed: 18810511]
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[Full Text: https://doi.org/10.1007/s10048-008-0148-y]
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Lesca, G., Eymard-Pierre, E., Santorelli, F. M., Cusmai, R., Di Capua, M., Valente, E. M., Attia-Sobol, J., Plauchu, H., Leuzzi, V., Ponzone, A., Boespflug-Tanguy, O., Bertini, E.
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<strong>Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families.</strong>
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Neurology 60: 674-682, 2003.
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[PubMed: 12601111]
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[Full Text: https://doi.org/10.1212/01.wnl.0000048207.28790.25]
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Sztriha, L., Panzeri, C., Kalmanchey, R., Szabo, N., Endreffy, E., Turi, S., Baschirotto, C., Bresolin, N., Vekerdy, Z., Bassi, M. T.
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<strong>First case of compound heterozygosity in ALS2 gene in infantile-onset ascending spastic paralysis with bulbar involvement. (Letter)</strong>
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Clin. Genet. 73: 591-593, 2008.
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[PubMed: 18394004]
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[Full Text: https://doi.org/10.1111/j.1399-0004.2008.00993.x]
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Verschuuren-Bemelmans, C. C., Winter, P., Sival, D. A., Elting, J.-W., Brouwer, O. F., Muller, U.
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<strong>Novel homozygous ALS2 nonsense mutation (p.Gln715X) in sibs with infantile-onset ascending spastic paralysis: the first cases from northwestern Europe.</strong>
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Europ. J. Hum. Genet. 16: 1407-1411, 2008.
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[PubMed: 18523452]
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[Full Text: https://doi.org/10.1038/ejhg.2008.108]
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Wakil, S. M., Ramzan, K., Abuthuraya, R., Hagos, S., Al-Dossari, H., Al-Omar, R., Murad, H., Chedrawi, A., Al-Hassnan, Z. N., Finsterer, J., Bohlega, S.
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<strong>Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C-T.</strong>
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Gene 536: 217-220, 2014.
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[PubMed: 24315819]
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[Full Text: https://doi.org/10.1016/j.gene.2013.11.043]
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Cassandra L. Kniffin - updated : 2/19/2014<br>Cassandra L. Kniffin - updated : 8/31/2009<br>Cassandra L. Kniffin - updated : 4/10/2009<br>Cassandra L. Kniffin - updated : 3/25/2009<br>Cassandra L. Kniffin - updated : 9/18/2007<br>Cassandra L. Kniffin - updated : 11/21/2005<br>Cassandra L. Kniffin - updated : 5/27/2003
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carol : 11/08/2023<br>carol : 10/17/2023<br>carol : 02/21/2014<br>mcolton : 2/20/2014<br>ckniffin : 2/19/2014<br>carol : 9/17/2013<br>wwang : 9/16/2009<br>ckniffin : 8/31/2009<br>wwang : 4/20/2009<br>ckniffin : 4/10/2009<br>wwang : 4/10/2009<br>ckniffin : 3/25/2009<br>wwang : 9/25/2007<br>ckniffin : 9/18/2007<br>wwang : 11/28/2005<br>ckniffin : 11/21/2005<br>tkritzer : 6/9/2003<br>ckniffin : 5/27/2003<br>alopez : 9/18/2002<br>carol : 9/17/2002
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