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Entry
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- #168300 - PARAMYOTONIA CONGENITA; PMC
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- OMIM
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<span class="h4">#168300</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/168300"><strong>Clinical Synopsis</strong></a>
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<a href="#description">Description</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#nomenclature">Nomenclature</a>
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<a href="#history">History</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</h4>
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<div><a href="https://clinicaltrials.gov/search?cond=(PARAMYOTONIA CONGENITA) OR (SCN4A)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=76&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.diseaseinfosearch.org/x/5586" 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/paramyotonia-congenita" 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=168300[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=684" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div style="display: table-cell;">Animal Models</div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0111538" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/168300" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://omia.org/OMIA000785/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</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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<a id="title" class="mim-anchor"></a>
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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> 41574007<br />
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<strong>ICD10CM:</strong> G71.19<br />
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<strong>ORPHA:</strong> 684<br />
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<strong>DO:</strong> 0111538<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
|
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168300
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</span>
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</span>
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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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PARAMYOTONIA CONGENITA; PMC
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</span>
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</h3>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<a id="alternativeTitles" class="mim-anchor"></a>
|
|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
PARAMYOTONIA CONGENITA OF VON EULENBURG<br />
|
|
PARALYSIS PERIODICA PARAMYOTONICA
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="includedTitles" class="mim-anchor"></a>
|
|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
Other entities represented in this entry:
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<span class="h3 mim-font">
|
|
PARAMYOTONIA CONGENITA WITHOUT COLD PARALYSIS, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="phenotypeMap" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/17/852?start=-3&limit=10&highlight=852">
|
|
17q23.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Paramyotonia congenita
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/168300"> 168300 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
SCN4A
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603967"> 603967 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/168300" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/168300" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/168300" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> RESPIRATORY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Inspiratory stridor in early life <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3805836&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3805836</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Gastrointestinal </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Poor feeding in early life <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3277278&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3277278</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MUSCLE, SOFT TISSUES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Myotonia, cold-sensitive, predominantly of face, tongue, forearm, and hand precipitated by muscle cooling or cold exposure or rest after exercise <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3277275&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3277275</a>]</span><br /> -
|
|
Transient neonatal hypotonia (less common) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2750317&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2750317</a>]</span><br /> -
|
|
Grip myotonia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1868623&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868623</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012899" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012899</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012899" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012899</a>]</span><br /> -
|
|
Percussion myotonia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0751359&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0751359</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010548" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010548</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010548" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010548</a>]</span><br /> -
|
|
Paradoxical myotonia (myotonia increases with exercise) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1868624&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868624</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011809" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011809</a>]</span><br /> -
|
|
Muscle stiffness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16046003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16046003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221170&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221170</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003552" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003552</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003552" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003552</a>]</span><br /> -
|
|
Muscle pain <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/68962001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">68962001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M79.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M79.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0231528&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0231528</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003326" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003326</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003326" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003326</a>]</span><br /> -
|
|
Muscle hypertrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249829006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249829006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0236033&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0236033</a>, <a href="https://bioportal.bioontology.org/search?q=C2265792&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2265792</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003712" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003712</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003712" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003712</a>]</span><br /> -
|
|
Muscle weakness after cooling or on warming affected muscle <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3277276&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3277276</a>]</span><br /> -
|
|
Decreased muscle action potential after warming affected muscle <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1868626&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868626</a>]</span><br /> -
|
|
Episodic weakness may or may not occur independent of myotonia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1868627&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868627</a>]</span><br /> -
|
|
Usually no myopathic changes on biopsy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1868628&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868628</a>]</span><br /> -
|
|
Potassium sensitivity has been reported <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1868629&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868629</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Onset in infancy or early childhood<br /> -
|
|
Some patients may present with transient neonatal hypotonia, and then later develop classic PMC in childhood<br /> -
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Highly variable phenotype <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839039&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839039</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span><br /> -
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Patients may have a combination phenotype of PMC and HYPP (see <a href="/entry/603967#0005">603967.0005</a>)<br /> -
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Allelic disorder to hyperkalemic periodic paralysis (HYPP, <a href="/entry/170500">170500</a>)<br /> -
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Allelic disorder to potassium-aggravated myotonia (<a href="/entry/608390">608390</a>)<br /> -
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Allelic disorder to hypokalemic periodic paralysis (HOKPP, <a href="/entry/170400">170400</a>)<br />
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- Caused by mutation in the alpha-subunit of the type IV voltage-gated sodium channel gene (SCN4A, <a href="/entry/603967#0003">603967.0003</a>)<br />
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<p>A number sign (#) is used with this entry because paramyotonia congenita (PMC) is caused by heterozygous mutation in the voltage-gated sodium channel alpha-subunit gene (SCN4A; <a href="/entry/603967">603967</a>) on chromosome 17q23.</p><p>Allelic disorders with overlapping phenotypes include hyperkalemic periodic paralysis (HYPP; <a href="/entry/170500">170500</a>) and the potassium-aggravated myotonias (<a href="/entry/608390">608390</a>).</p><p>See also autosomal dominant myotonia congenita (<a href="/entry/160800">160800</a>), which is caused by mutation in the CLCN1 gene (<a href="/entry/118425">118425</a>).</p>
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<p>Paramyotonia congenita (PMC) is an autosomal dominant myotonic disorder characterized by cold-induced prolonged localized muscle contraction and weakness. Patients may experience episodes of generalized weakness (periodic paralysis) unassociated with cold exposure (summary by <a href="#30" class="mim-tip-reference" title="Ptacek, L. J., George, A. L., Jr., Barchi, R. L., Griggs, R. C., Riggs, J. E., Robertson, M., Leppert, M. F. <strong>Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita.</strong> Neuron 8: 891-897, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1316765/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1316765</a>] [<a href="https://doi.org/10.1016/0896-6273(92)90203-p" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1316765">Ptacek et al., 1992</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1316765" 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 characteristics of paramyotonia congenita, first described by von <a href="#11" class="mim-tip-reference" title="Eulenburg, A. <strong>Ueber eine familiare, durch 6 generationen verfolgbare Form congenitaler Paramyotonie.</strong> Neurologisches Centralblatt 12: 265-272, 1886."None>Eulenburg (1886)</a>, are (1) inheritance as a dominant with high penetrance; (2) myotonia, increased by exposure to cold; (3) intermittent flaccid paresis, not necessarily dependent on cold or myotonia; (4) lability of serum potassium; (5) nonprogressive nature; and (6) lack of atrophy or hypertrophy of muscles.</p><p><a href="#21" class="mim-tip-reference" title="Lajoie, W. J. <strong>Paramyotonia congenita, clinical features and electromyographic findings.</strong> Arch. Phys. Med. 42: 507-512, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13758355/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13758355</a>]" pmid="13758355">Lajoie (1961)</a> described a family with many affected members. The condition, which was already evident in infancy, was manifested mainly by paralysis of muscles exposed to cold; it was not progressive, did not interfere with a reasonably normal social and economic life, and did not affect longevity. <a href="#9" class="mim-tip-reference" title="Drager, G. A., Hammill, J. F., Shy, G. M. <strong>Paramyotonia congenita.</strong> Arch. Neurol. Psychiat. 80: 1-9, 1958.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13544644/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13544644</a>] [<a href="https://doi.org/10.1001/archneurpsyc.1958.02340070019001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13544644">Drager et al. (1958)</a> found 30 affected members in 6 generations of a family. <a href="#15" class="mim-tip-reference" title="Hudson, A. J. <strong>Progressive neurological disorder and myotonia congenita associated with paramyotonia.</strong> Brain 86: 811-826, 1963.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14090531/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14090531</a>] [<a href="https://doi.org/10.1093/brain/86.4.811" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14090531">Hudson (1963)</a>, who reported 17 affected persons in 5 generations of a family, commented on the phenotypic overlap of this condition with hypokalemic, eukalemic, and hyperkalemic periodic paralysis, with myotonia congenita, and with myotonic dystrophy. Six and possibly 9 generations had affected members in the French-Canadian family reported by <a href="#35" class="mim-tip-reference" title="Samaha, F. J. <strong>Von Eulenburg's paramyotonia.</strong> Trans. Am. Neurol. Assoc. 89: 87-91, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5828532/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5828532</a>]" pmid="5828532">Samaha (1964)</a>. Eating ice cream or swimming in cold water was dangerous to affected members. Serum potassium levels were moderately increased and the patients were sensitive to administered potassium. Chlorothiazide was remarkably beneficial. <a href="#1" class="mim-tip-reference" title="Becker, P. E. <strong>Paramyotonia congenita (Eulenburg). Fortschritte der Allgemeinen und Klinischen.</strong> Humangenetik 3: 134 only, 1970."None>Becker (1970)</a> gave an extensive review of the subject and described studies in 18 kindreds. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5828532+13544644+14090531+13758355" 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 electrophysiologic studies of 5 unrelated patients with PMC, <a href="#32" class="mim-tip-reference" title="Ricker, K., Rudel, R., Lehmann-Horn, F., Kuther, G. <strong>Muscle stiffness and electrical activity in paramyotonia congenita.</strong> Muscle Nerve 9: 299-305, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3713735/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3713735</a>] [<a href="https://doi.org/10.1002/mus.880090403" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3713735">Ricker et al. (1986)</a> concluded that slowed muscle relaxation precipitated by cooling the muscle contributed to paramyotonic stiffness. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3713735" 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="Borg, K., Hovmoller, M., Larsson, L., Edstrom, L. <strong>Paramyotonia congenita (Eulenberg): clinical, neurophysiological and muscle biopsy observations in a Swedish family.</strong> Acta Neurol. Scand. 87: 37-42, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8424309/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8424309</a>] [<a href="https://doi.org/10.1111/j.1600-0404.1993.tb04072.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8424309">Borg et al. (1993)</a> described a large Swedish family with paramyotonia congenita. Clinical features included cold-induced myotonia, attacks of weakness, persistent weakness, and some signs of muscle affection. Muscle action potentials decreased significantly after cooling. An ancestor of the family, who had myotonia, lived in the same town at the same time as Albert Eulenburg. <a href="#3" class="mim-tip-reference" title="Borg, K., Hovmoller, M., Larsson, L., Edstrom, L. <strong>Paramyotonia congenita (Eulenberg): clinical, neurophysiological and muscle biopsy observations in a Swedish family.</strong> Acta Neurol. Scand. 87: 37-42, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8424309/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8424309</a>] [<a href="https://doi.org/10.1111/j.1600-0404.1993.tb04072.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8424309">Borg et al. (1993)</a> suggested that their family was part of the originally described kindred (<a href="#11" class="mim-tip-reference" title="Eulenburg, A. <strong>Ueber eine familiare, durch 6 generationen verfolgbare Form congenitaler Paramyotonie.</strong> Neurologisches Centralblatt 12: 265-272, 1886."None>Eulenburg, 1886</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8424309" 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="#36" class="mim-tip-reference" title="Sasaki, R., Takano, H., Kamakura, K., Kaida, K., Hirata, A., Saito, M., Tanaka, H., Kuzuhara, S., Tsuji, S. <strong>A novel mutation in the gene for the adult skeletal muscle sodium channel alpha-subunit (SCN4A) that causes paramyotonia congenita of von Eulenburg.</strong> Arch. Neurol. 56: 692-696, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10369308/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10369308</a>] [<a href="https://doi.org/10.1001/archneur.56.6.692" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10369308">Sasaki et al. (1999)</a> reported a 4-generation Japanese family in which 9 members were affected with PMC. The proband was a 16-year-old girl who began to experience muscle stiffness in her face, hands, and limbs on exposure to cold at the age of 4 years. She showed grip and percussion myotonia in her hands which was aggravated by exercise (paradoxical myotonia), and hand muscle weakness after cold exposure. Serum potassium was normal. There were no episodes of generalized weakness. Other family members had the same symptoms and signs, and only 3 reported episodes of generalized paralysis, always after exposure to cold. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10369308" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#28" class="mim-tip-reference" title="Miller, T. M., Dias da Silva, M. R., Miller, H. A., Kwiecinski, H., Mendell, J. R., Tawil, R., McManis, P., Griggs, R. C., Angelini, C., Servidei, S., Petajan, J., Dalakas, M. C., Ranum, L. P. W., Fu, Y. H., Ptacek, L. J. <strong>Correlating phenotype and genotype in the periodic paralyses.</strong> Neurology 63: 1647-1655, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15534250/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15534250</a>] [<a href="https://doi.org/10.1212/01.wnl.0000143383.91137.00" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15534250">Miller et al. (2004)</a> identified mutations in the SCN4A gene in 49 of 56 patients with PMC. The average age at onset in all patients, with or without mutations, was 3 to 4 years. Clinical myotonia was present in all patients, and all of those tested showed increased myotonia in response to cold temperature. Approximately half of patients had mild muscle weakness, and most patients had increased serum creatine kinase. In a diagnostic flow chart for the periodic paralyses, <a href="#28" class="mim-tip-reference" title="Miller, T. M., Dias da Silva, M. R., Miller, H. A., Kwiecinski, H., Mendell, J. R., Tawil, R., McManis, P., Griggs, R. C., Angelini, C., Servidei, S., Petajan, J., Dalakas, M. C., Ranum, L. P. W., Fu, Y. H., Ptacek, L. J. <strong>Correlating phenotype and genotype in the periodic paralyses.</strong> Neurology 63: 1647-1655, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15534250/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15534250</a>] [<a href="https://doi.org/10.1212/01.wnl.0000143383.91137.00" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15534250">Miller et al. (2004)</a> indicated that PMC shows early age at onset and is characterized by frequent attacks lasting less than 24 hours with normal serum potassium levels. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15534250" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#29" class="mim-tip-reference" title="Petitprez, S., Tiab, L., Chen, L., Kappeler, L., Rosler, K. M., Schorderet, D., Abriel, H., Burgunder, J.-M. <strong>A novel dominant mutation of the Na(v)1.4 alpha-subunit domain I leading to sodium channel myotonia.</strong> Neurology 71: 1669-1675, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19015483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19015483</a>] [<a href="https://doi.org/10.1212/01.wnl.0000335168.86248.55" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19015483">Petitprez et al. (2008)</a> reported a large family with autosomal dominant myotonia associated with a heterozygous mutation in the SCN4A gene (<a href="/entry/603967#0029">603967.0029</a>). Age at onset ranged from 4 to 22 years. All patients reported muscle stiffness, which occurred upon starting movement after a time of motor rest, especially when the rest period followed physical activity. The duration of the stiffness was usually very short, sometimes only seconds, and improved with repetitive movement. Most reported worsening of symptoms during exposure to cold, and approximately half reported worsening after fasting. Many patients reported worsening of symptoms with mental stress and pregnancy, worsening in puberty for those with childhood onset, and improvement in older age. Muscle weakness was not reported. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19015483" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Dupre, N., Chrestian, N., Bouchard, J.-P., Rossignol, E., Brunet, D., Sternberg, D., Brias, B., Mathieu, J., Puymirat, J. <strong>Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians.</strong> Neuromusc. Disord. 19: 330-334, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18337100/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18337100</a>] [<a href="https://doi.org/10.1016/j.nmd.2008.01.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18337100">Dupre et al. (2009)</a> reported 14 French Canadian patients from 9 unrelated families with myotonia caused by SCN4A mutations (see, e.g., <a href="/entry/603967#0007">603967.0007</a>). The mean age at onset was 17.7 years (range, 3 to 56). The most common clinical features included lip myotonia (57%), percussion myotonia (86%), handgrip myotonia (71%), warm-up phenomenon (79%), generalized stiffness (64%), muscle pain (64%), and exacerbation with cold temperatures (79%). Less common features included lid lag (21%), tongue myotonia (28%), and generalized hypertrophy (21%). None had weakness. Among female patients, 38% reported aggravation of symptoms during menstruation or pregnancy, and alleviation after menopause. One patient reported improvement with alcohol. Although many patients (43%) tried medication, only a few (28%) had relief. The most effective medications were mexiletine and carbamazepine, followed by phenytoin. Electrophysiologic studies showed similar myotonia and decremental CMAP responses as patients with heterozygous mutations in the CLCN1 (<a href="/entry/118425">118425</a>) gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18337100" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Paramyotonia without Cold Paralysis</em></strong></p><p>
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<a href="#5" class="mim-tip-reference" title="Brungger, U., Kaeser, H. E. <strong>Paramyotonia congenita without cold paralysis and myotonia levior: a genetic and clinical study.</strong> Europ. Neurol. 15: 2-4, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/852462/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">852462</a>] [<a href="https://doi.org/10.1159/000114781" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="852462">Brungger and Kaeser (1977)</a> described an extensive kindred in which at least 26 members had paramyotonia congenita. Cold paralysis never occurred spontaneously and could not be induced by immersion in cold water or by potassium load. The findings supported the conclusion by <a href="#8" class="mim-tip-reference" title="DeJong, J. G. Y. <strong>Dystrophia myotonica, paramyotonia and myotonia congenita.</strong> Assen, The Netherlands: Van Gorcum (pub.) 1955."None>DeJong (1955)</a> of a separate form of paramyotonia without cold paralysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=852462" 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="#17" class="mim-tip-reference" title="Koch, M. C., Baumbach, K., George, A. L., Ricker, K. <strong>Paramyotonia congenita without paralysis on exposure to cold: a novel mutation in the SCN4A gene (val1293ile).</strong> Neuroreport 6: 2001-2004, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8580427/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8580427</a>] [<a href="https://doi.org/10.1097/00001756-199510010-00012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8580427">Koch et al. (1995)</a> reported 3 unrelated 3-generation pedigrees of German extraction which segregated paramyotonia congenita without paralysis on exposure to cold. The probands were only mildly affected. There was muscle stiffness in the cold, but never any weakness, even in a muscle contraction measurement registered by a standardized forearm cooling test. The authors stated that the absence of weakness after exposure to cold or exercise distinguished the phenotype from classic paramyotonia congenita of Eulenburg. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8580427" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Davies, N. P., Eunson, L. H., Gregory, R. P., Mills, K. R., Morrison, P. J., Hanna, M. G. <strong>Clinical, electrophysiological, and molecular genetic studies in a new family with paramyotonia congenita.</strong> J. Neurol. Neurosurg. Psychiat. 68: 504-507, 2000. Note: Erratum: J. Neurol. Neurosurg. Psychiat. 69: 139 only, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10727489/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10727489</a>] [<a href="https://doi.org/10.1136/jnnp.68.4.504" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10727489">Davies et al. (2000)</a> reported an Irish family in which 5 members were affected with paramyotonia without periodic paralysis ('pure paramyotonia.') The proband developed symptoms in childhood consisting of spasms of muscle stiffness that preferentially affected the hands and face. Symptoms tended to worsen with exertion (paradoxical myotonia), but the most marked exacerbation occurred in cold weather. There was no history of periodic paralysis or progressive muscle weakness. Physical exam showed myotonia, and electromyography (EMG) showed profuse myotonic discharges. On cooling, there was a 78% drop in compound muscle action potential amplitude. Four other family members had a similar clinical history. <a href="#7" class="mim-tip-reference" title="Davies, N. P., Eunson, L. H., Gregory, R. P., Mills, K. R., Morrison, P. J., Hanna, M. G. <strong>Clinical, electrophysiological, and molecular genetic studies in a new family with paramyotonia congenita.</strong> J. Neurol. Neurosurg. Psychiat. 68: 504-507, 2000. Note: Erratum: J. Neurol. Neurosurg. Psychiat. 69: 139 only, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10727489/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10727489</a>] [<a href="https://doi.org/10.1136/jnnp.68.4.504" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10727489">Davies et al. (2000)</a> identified a point mutation in the SCN4A gene (<a href="/entry/603967#0019">603967.0019</a>) that segregated with the disease phenotype in this family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10727489" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Clinical Variability</em></strong></p><p>
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<a href="#26" class="mim-tip-reference" title="McClatchey, A. I., McKenna-Yasek, D., Cros, D., Worthen, H. G., Kuncl, R. W., DeSilva, S. M., Cornblath, D. R., Gusella, J. F., Brown, R. H., Jr. <strong>Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel.</strong> Nature Genet. 2: 148-152, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1338909/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1338909</a>] [<a href="https://doi.org/10.1038/ng1092-148" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1338909">McClatchey et al. (1992)</a> described a 3-generation Finnish family in which affected members had a disorder with features of both PMC and HYPP. The proband and her brother had infrequent attacks of muscle weakness while resting after exercise, myotonia, and hyperkalemia, typical of HYPP. Their father complained of nocturnal and cold-induced weakness consistent with PMC. Some other members of the family had myotonic features, limb stiffness, and myotonia precipitated by cold. <a href="#26" class="mim-tip-reference" title="McClatchey, A. I., McKenna-Yasek, D., Cros, D., Worthen, H. G., Kuncl, R. W., DeSilva, S. M., Cornblath, D. R., Gusella, J. F., Brown, R. H., Jr. <strong>Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel.</strong> Nature Genet. 2: 148-152, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1338909/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1338909</a>] [<a href="https://doi.org/10.1038/ng1092-148" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1338909">McClatchey et al. (1992)</a> also reported an Italian family with PMC and suggested that some members had a phenotype consistent with myotonia congenita (widespread spontaneous myotonia even without cooling). Both families were found to have mutations in the SCN4A gene (<a href="/entry/603967#0005">603967.0005</a>-<a href="/entry/603967#0006">603967.0006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1338909" 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="#16" class="mim-tip-reference" title="Kelly, P., Yang, W. S., Costigan, D., Farrell, M. A., Murphy, S., Hardiman, O. <strong>Paramyotonia congenita and hyperkalemic periodic paralysis associated with a met1592-to-val substitution in the skeletal muscle sodium channel alpha subunit--a large kindred with a novel phenotype.</strong> Neuromusc. Disord. 7: 105-111, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9131651/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9131651</a>] [<a href="https://doi.org/10.1016/s0960-8966(96)00429-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9131651">Kelly et al. (1997)</a> described a large kindred in which affected members were phenotypically heterogeneous with episodic potassium-sensitive paralysis as well as stiffness and weakness induced by exercise and cold. A mutation in the SCN4A gene (<a href="/entry/603967#0002">603967.0002</a>) was identified. The authors noted that the same mutation had previously been described in families with only HYPP (see <a href="#33" class="mim-tip-reference" title="Rojas, C. V., Wang, J., Schwartz, L. S., Hoffman, E. P., Powell, B. R., Brown, R. H., Jr. <strong>A met-to-val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis.</strong> Nature 354: 387-389, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1659668/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1659668</a>] [<a href="https://doi.org/10.1038/354387a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1659668">Rojas et al., 1991</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1659668+9131651" 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="Brancati, F., Valente, E. M., Davies, N. P., Sarkozy, A., Sweeney, M. G., LoMonaco, M., Pizzuti, A., Hanna, M. G., Dallapiccola, B. <strong>Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A.</strong> J. Neurol. Neurosurg. Psychiat. 74: 1339-1341, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12933953/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12933953</a>] [<a href="https://doi.org/10.1136/jnnp.74.9.1339" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12933953">Brancati et al. (2003)</a> reported an Italian kindred with 9 individuals affected with a severe form of HYPP and mild features of paramyotonia congenita. Onset of paralytic episodes was in the first 6 to 12 months in all patients. The episodes were frequent, 2 to 3 times per week, lasting 10 minutes to 2 hours, and were usually accompanied by muscle stiffness, usually of the lower limbs. During adolescence, episodes were precipitated by rest after exercise, cold, alcohol intake, and fasting. The frequency and severity of attacks worsened over the years, occurring daily and spontaneously. Five of 6 patients had normal serum potassium during attacks. Diffuse interictal weakness, primarily in the proximal muscles, occurred around the fourth to fifth decade. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12933953" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#13" class="mim-tip-reference" title="Gay, S., Dupuis, D., Faivre, L., Masurel-Paulet, A., Labenne, M., Colombani, M., Soichot, P., Huet, F., Hainque, B., Sternberg, D., Fontaine, B., Gouyon, J.-B., Thauvin-Robinet, C. <strong>Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene.</strong> Am. J. Med. Genet. 146A: 380-383, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18203179/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18203179</a>] [<a href="https://doi.org/10.1002/ajmg.a.32141" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18203179">Gay et al. (2008)</a> described a female infant with severe fatal neonatal nondystrophic myotonia who presented with facial dysmorphism, muscle hypertrophy, severe constipation, psychomotor delay, and frequent cold-induced episodes of myotonia and muscle weakness, leading to severe hypoxia and loss of consciousness; she died at 20 months of age following a bronchopulmonary infection. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18203179" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#24" class="mim-tip-reference" title="Matthews, E., Guet, A., Mayer, M., Vicart, S., Pemble, S., Sternberg, D., Fontaine, B., Hanna, M. G. <strong>Neonatal hypotonia can be a sodium channelopathy: recognition of a new phenotype.</strong> Neurology 71: 1740-1742, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19015492/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19015492</a>] [<a href="https://doi.org/10.1212/01.wnl.0000335269.21550.0e" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19015492">Matthews et al. (2008)</a> reported a woman with classic PMC who had 2 affected children who presented with transient neonatal hypotonia. The older child recovered fully from the neonatal hypotonia and later developed classic PMC at age 3 years. The authors identified 4 additional cases from 3 additional families with transient neonatal hypotonia. Some of the patients required feeding or respiratory assistance, and all later developed classic PMC by age 5 years. All of these patients had the same missense mutation in the SCN4A gene (I693T; <a href="/entry/603967#0028">603967.0028</a>). Earlier generations of 3 of the families reported a history of PMC without neonatal hypotonia. The findings expanded the phenotypic spectrum of PMC to include neonatal hypotonia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19015492" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#25" class="mim-tip-reference" title="Matthews, E., Manzur, A. Y., Sud, R., Muntoni, F., Hanna, M. G. <strong>Stridor as a neonatal presentation of skeletal muscle sodium channelopathy.</strong> Arch. Neurol. 68: 127-129, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21220685/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21220685</a>] [<a href="https://doi.org/10.1001/archneurol.2010.347" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21220685">Matthews et al. (2011)</a> reported a boy with PMC who presented with neonatal inspiratory stridor and poor feeding. Laryngoscopy showed findings consistent with laryngomalacia. He continued to have stridor for the first 6 months of life, and later motor milestones were mildly delayed. In early childhood, he was noted to have frequent episodic muscle weakness and stiffness associated with cold weather. At age 4 years, he continued to have episodes of inspiratory stridor exacerbated by viral illness, cold weather, and prolonged laughing or crying. His mother, grandfather, and great-uncle reported similar episodes of muscle stiffness and weakness exacerbated by cold and exercise. All were found to carry a heterozygous mutation in the SCN4A gene (T1313M; <a href="/entry/603967#0008">603967.0008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21220685" 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 PMC in the families reported by <a href="#30" class="mim-tip-reference" title="Ptacek, L. J., George, A. L., Jr., Barchi, R. L., Griggs, R. C., Riggs, J. E., Robertson, M., Leppert, M. F. <strong>Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita.</strong> Neuron 8: 891-897, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1316765/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1316765</a>] [<a href="https://doi.org/10.1016/0896-6273(92)90203-p" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1316765">Ptacek et al. (1992)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1316765" 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>Among 22 patients with PMC, 14 with sodium channel myotonia, and 18 myotonia patients with mutations in the CLCN1 gene (<a href="/entry/118425">118425</a>), <a href="#12" class="mim-tip-reference" title="Fournier, E., Viala, K., Gervais, H., Sternberg, D., Arzel-Hezode, M., Laforet, P., Eymard, B., Tabti, N., Willer, J.-C., Vial, C., Fontaine, B. <strong>Cold extends electromyography distinction between ion channel mutations causing myotonia.</strong> Ann. Neurol. 60: 356-365, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16786525/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16786525</a>] [<a href="https://doi.org/10.1002/ana.20905" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16786525">Fournier et al. (2006)</a> found that cold temperature was able to exaggerate EMG findings in a way that enabled a clear correlation between EMG findings and genetic defects. Those with PMC showed a clear worsening of compound muscle action potential with cold temperature. Those with sodium channel myotonia tended not to show a decline in compound action muscle potentials, whereas those with myotonia due to CLCN1 mutations tended to show improvement of the muscle potential with exercise, concomitant with the clinical warm-up phenomenon. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16786525" 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="#31" class="mim-tip-reference" title="Ptacek, L. J., Trimmer, J. S., Agnew, W. S., Roberts, J. W., Petajan, J. H., Leppert, M. <strong>Paramyotonia congenita and hyperkalemic periodic paralysis map to the same sodium-channel gene locus.</strong> Am. J. Hum. Genet. 49: 851-854, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1654742/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1654742</a>]" pmid="1654742">Ptacek et al. (1991)</a> found that paramyotonia congenita is linked to the gene for the muscle sodium channel subunit, SCN4A (lod score of 4.4 at theta = 0.0 at assumed penetrance of 0.95). This gene was also shown to be tightly linked to hyperkalemic periodic paralysis, which in some cases is associated with myotonia, and the authors suggested that PMC and HYPP are allelic disorders. In a linkage analysis of 17 well-defined families with PMC, <a href="#18" class="mim-tip-reference" title="Koch, M. C., Ricker, K., Otto, M., Grimm, T., Bender, K., Zoll, B., Harper, P. S., Lehmann-Horn, F., Rudel, R., Hoffman, E. P. <strong>Linkage data suggesting allelic heterogeneity for paramyotonia congenita and hyperkalemic periodic paralysis on chromosome 17.</strong> Hum. Genet. 88: 71-74, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1660029/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1660029</a>] [<a href="https://doi.org/10.1007/BF00204932" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1660029">Koch et al. (1991)</a> found strong linkage to the SCN4A gene (maximum lod score of 20.61 at theta = 0.001). No recombination event was found between paramyotonia congenita and the SCN4A gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1660029+1654742" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In patients with PMC from 3 families, <a href="#30" class="mim-tip-reference" title="Ptacek, L. J., George, A. L., Jr., Barchi, R. L., Griggs, R. C., Riggs, J. E., Robertson, M., Leppert, M. F. <strong>Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita.</strong> Neuron 8: 891-897, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1316765/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1316765</a>] [<a href="https://doi.org/10.1016/0896-6273(92)90203-p" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1316765">Ptacek et al. (1992)</a> identified heterozygous mutations in the SCN4A gene (<a href="/entry/603967#0003">603967.0003</a>-<a href="/entry/603967#0004">603967.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1316765" 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 families with PMC, <a href="#27" class="mim-tip-reference" title="McClatchey, A. I., Van den Bergh, P., Pericak-Vance, M. A., Raskind, W., Verellen, C., McKenna-Yasek, D., Rao, K., Haines, J. L., Bird, T., Brown, R. H., Jr., Gusella, J. F. <strong>Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita.</strong> Cell 68: 769-774, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1310898/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1310898</a>] [<a href="https://doi.org/10.1016/0092-8674(92)90151-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1310898">McClatchey et al. (1992)</a> identified heterozygous mutations in the SCN4A gene (<a href="/entry/603967#0007">603967.0007</a>-<a href="/entry/603967#0008">603967.0008</a>). <a href="#27" class="mim-tip-reference" title="McClatchey, A. I., Van den Bergh, P., Pericak-Vance, M. A., Raskind, W., Verellen, C., McKenna-Yasek, D., Rao, K., Haines, J. L., Bird, T., Brown, R. H., Jr., Gusella, J. F. <strong>Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita.</strong> Cell 68: 769-774, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1310898/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1310898</a>] [<a href="https://doi.org/10.1016/0092-8674(92)90151-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1310898">McClatchey et al. (1992)</a> suggested that these are examples of molecular definition of temperature-sensitive mutations in the human. At normal temperatures, the mutation may have minimal clinical significance; however, even a minor drop in temperature may impede movement of the channel loop enough to allow an abnormal sodium flux. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1310898" 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 3 families with paramyotonia without cold paralysis, <a href="#17" class="mim-tip-reference" title="Koch, M. C., Baumbach, K., George, A. L., Ricker, K. <strong>Paramyotonia congenita without paralysis on exposure to cold: a novel mutation in the SCN4A gene (val1293ile).</strong> Neuroreport 6: 2001-2004, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8580427/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8580427</a>] [<a href="https://doi.org/10.1097/00001756-199510010-00012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8580427">Koch et al. (1995)</a> found the same novel missense mutation in the SCN4A gene (V1293I; <a href="/entry/603967#0013">603967.0013</a>). In a family affected with PMC without periodic paralysis, <a href="#7" class="mim-tip-reference" title="Davies, N. P., Eunson, L. H., Gregory, R. P., Mills, K. R., Morrison, P. J., Hanna, M. G. <strong>Clinical, electrophysiological, and molecular genetic studies in a new family with paramyotonia congenita.</strong> J. Neurol. Neurosurg. Psychiat. 68: 504-507, 2000. Note: Erratum: J. Neurol. Neurosurg. Psychiat. 69: 139 only, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10727489/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10727489</a>] [<a href="https://doi.org/10.1136/jnnp.68.4.504" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10727489">Davies et al. (2000)</a> identified a mutation in the SCN4A gene (G1456E; <a href="/entry/603967#0019">603967.0019</a>), and <a href="#36" class="mim-tip-reference" title="Sasaki, R., Takano, H., Kamakura, K., Kaida, K., Hirata, A., Saito, M., Tanaka, H., Kuzuhara, S., Tsuji, S. <strong>A novel mutation in the gene for the adult skeletal muscle sodium channel alpha-subunit (SCN4A) that causes paramyotonia congenita of von Eulenburg.</strong> Arch. Neurol. 56: 692-696, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10369308/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10369308</a>] [<a href="https://doi.org/10.1001/archneur.56.6.692" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10369308">Sasaki et al. (1999)</a> identified the same mutation in a family with PMC in which only 3 members showed periodic paralysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10727489+10369308+8580427" 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 female infant with severe fatal neonatal nondystrophic myotonia and overlapping features of PMC and HYPP, <a href="#13" class="mim-tip-reference" title="Gay, S., Dupuis, D., Faivre, L., Masurel-Paulet, A., Labenne, M., Colombani, M., Soichot, P., Huet, F., Hainque, B., Sternberg, D., Fontaine, B., Gouyon, J.-B., Thauvin-Robinet, C. <strong>Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene.</strong> Am. J. Med. Genet. 146A: 380-383, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18203179/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18203179</a>] [<a href="https://doi.org/10.1002/ajmg.a.32141" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18203179">Gay et al. (2008)</a> identified a heterozygous mutation (N1297K; <a href="/entry/603967#0027">603967.0027</a>) in the SCN4A gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18203179" 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="#34" class="mim-tip-reference" title="Rossignol, E., Mathieu, J., Thiffault, I., Tetreault, M., Dicaire, M.-J., Chrestian, N., Dupre, N., Puymirat, J., Brais, B. <strong>A novel founder SCN4A mutation causes painful cold-induced myotonia in French-Canadians.</strong> Neurology 69: 1937-1941, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17998485/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17998485</a>] [<a href="https://doi.org/10.1212/01.wnl.0000290831.08585.2c" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17998485">Rossignol et al. (2007)</a> identified a heterozygous founder mutation in the SCN4A gene (M1476I; <a href="/entry/603967#0026">603967.0026</a>) in 44 patients from 11 French Canadian families with a myotonia phenotype most consistent with paramyotonia congenita. The patients originated from the Saguenay-Lac-Saint-Jean region with notable clustering around Saint-Felicien, and haplotype analysis indicated a founder effect. The phenotype was quite variable, with age at onset ranging from 5 to 67 years (mean, 21 years) and patients showing mild (61%) to severe (14%) symptoms. Eleven (25%) patients were asymptomatic despite myotonic discharges on EMG. The most consistent features were cold-induced myotonia (41%) and painful myotonia (18%). Other variable features included aggravation of symptoms with pregnancy, myotonic reactions to anesthesia, food-induced paralysis, and rhabdomyolysis. Potassium challenge was not conducted. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17998485" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#22" class="mim-tip-reference" title="Lehmann-Horn, F., Rudel, R., Ricker, K. <strong>Non-dystrophic myotonias and periodic paralyses.</strong> Neuromusc. Disord. 3: 161-168, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7689382/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7689382</a>] [<a href="https://doi.org/10.1016/0960-8966(93)90009-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7689382">Lehmann-Horn et al. (1993)</a> suggested the term 'sodium channel disease' to encompass the different allelic syndromes caused by SCN4A mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7689382" 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="#6" class="mim-tip-reference" title="Chitayat, D., Kastelein, J. J. P., Hayden, M. R. <strong>Evidence that paramyotonia congenita is allelic to myotonic dystrophy. (Abstract)</strong> Cytogenet. Cell Genet. 46: 593 only, 1987."None>Chitayat et al. (1987)</a> found a suggestion of linkage of typical paramyotonia congenita to APOC2 (<a href="/entry/608083">608083</a>) on chromosome 19. The maximum lod score was 1.5 at theta = 0.0. They raised the possibility that PMC is caused by a mutation at the same locus as DM (<a href="/entry/160900">160900</a>), which is linked to APOC2. Koch et al. (<a href="#20" class="mim-tip-reference" title="Koch, M., Harley, H., Sarfarazi, M., Harper, P. S., Bender, K., Wienker, T. <strong>Paramyotonia congenita excluded from the myotonic dystrophy region on chromosome 19. (Abstract)</strong> J. Med. Genet. 25: 279 only, 1988."None>1988</a>, <a href="#19" class="mim-tip-reference" title="Koch, M., Harley, H., Grimm, T., Sarfarazi, M., Muller, B., Zoll, B., Harper, P. S. <strong>Paramyotonia congenita and myotonic dystrophy are not allelic disorders.</strong> Cytogenet. Cell Genet. 50: 176-177, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2776487/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2776487</a>] [<a href="https://doi.org/10.1159/000132755" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2776487">1989</a>) presented linkage data excluding the paramyotonia congenita locus from much of chromosome 19, and specifically excluding the possibility that it is allelic to DM. <a href="#2" class="mim-tip-reference" title="Bender, K., Senff, H., Steiert, A., Lagodny, H., Wienker, T. F., Koch, M. <strong>Linkage studies of myotonia congenita and paramyotonia congenita.</strong> Clin. Genet. 36: 92-99, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2766573/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2766573</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1989.tb03170.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2766573">Bender et al. (1989)</a> found a suggestion of linkage to haptoglobin (<a href="/entry/140100">140100</a>) on chromosome 16 (maximum lod score of 1.16 at theta = 0.16.) <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2776487+2766573" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Haynes1972" class="mim-tip-reference" title="Haynes, J., Thrush, D. C. <strong>Paramyotonia congenita: an electrophysiological study.</strong> Brain 95: 553-558, 1972.">Haynes and Thrush (1972)</a>; <a href="#Magee1966" class="mim-tip-reference" title="Magee, K. R. <strong>Paramyotonia congenita: associated with cutaneous cold sensitivity and description of peculiar sustained postures after muscle contraction.</strong> Arch. Neurol. 14: 590-594, 1966.">Magee (1966)</a>; <a href="#Thomasen1948" class="mim-tip-reference" title="Thomasen, E. <strong>Myotonia: Thomsen's Disease (Myotonia Congenita), Paramyotonia, and Dystrophia Myotonica. A Clinical and Heredobiologic Investigation.</strong> Aarhus: Universitetsforlaget (pub.) 1948.">Thomasen (1948)</a>; <a href="#Thrush1972" class="mim-tip-reference" title="Thrush, D. C., Morris, C. J., Salmon, M. V. <strong>Paramyotonia congenita: a clinical, histochemical and pathological study.</strong> Brain 95: 537-552, 1972.">Thrush et
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<strong>Paramyotonia congenita (Eulenburg). Fortschritte der Allgemeinen und Klinischen.</strong>
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Humangenetik 3: 134 only, 1970.
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Bender, K., Senff, H., Steiert, A., Lagodny, H., Wienker, T. F., Koch, M.
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Clin. Genet. 36: 92-99, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2766573/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2766573</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2766573" 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.1399-0004.1989.tb03170.x" target="_blank">Full Text</a>]
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Borg, K., Hovmoller, M., Larsson, L., Edstrom, L.
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<strong>Paramyotonia congenita (Eulenberg): clinical, neurophysiological and muscle biopsy observations in a Swedish family.</strong>
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Acta Neurol. Scand. 87: 37-42, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8424309/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8424309</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8424309" 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.1600-0404.1993.tb04072.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1097/00001756-199510010-00012" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1159/000132755" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archneur.1966.00470120022003" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/01.wnl.0000335269.21550.0e" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archneurol.2010.347" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0092-8674(92)90151-2" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/01.wnl.0000143383.91137.00" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/01.wnl.0000335168.86248.55" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0896-6273(92)90203-p" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/mus.880090403" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/354387a0" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/01.wnl.0000290831.08585.2c" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archneur.56.6.692" target="_blank">Full Text</a>]
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<strong>Myotonia: Thomsen's Disease (Myotonia Congenita), Paramyotonia, and Dystrophia Myotonica. A Clinical and Heredobiologic Investigation.</strong>
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<a id="Thrush1972" class="mim-anchor"></a>
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[<a href="https://doi.org/10.1093/brain/95.3.537" target="_blank">Full Text</a>]
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<br />
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 4/18/2011
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 10/27/2009<br>Cassandra L. Kniffin - updated : 4/6/2009<br>Cassandra L. Kniffin - updated : 12/3/2008<br>Marla J. F. O'Neill - updated : 4/24/2008<br>Cassandra L. Kniffin - updated : 3/31/2008<br>Cassandra L. Kniffin - updated : 5/9/2005<br>Cassandra L. Kniffin - reorganized : 1/23/2004
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 6/2/1986
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alopez : 03/21/2024
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alopez : 03/21/2024<br>carol : 09/28/2023<br>joanna : 07/14/2016<br>carol : 9/13/2012<br>terry : 5/10/2012<br>terry : 4/10/2012<br>terry : 10/26/2011<br>wwang : 4/21/2011<br>ckniffin : 4/18/2011<br>wwang : 11/16/2009<br>ckniffin : 10/27/2009<br>wwang : 10/12/2009<br>wwang : 4/15/2009<br>ckniffin : 4/6/2009<br>terry : 2/12/2009<br>wwang : 12/4/2008<br>ckniffin : 12/3/2008<br>wwang : 4/25/2008<br>terry : 4/24/2008<br>wwang : 4/7/2008<br>ckniffin : 3/31/2008<br>carol : 8/26/2005<br>ckniffin : 5/9/2005<br>terry : 6/28/2004<br>carol : 1/23/2004<br>ckniffin : 1/15/2004<br>ckniffin : 9/24/2003<br>carol : 7/7/1999<br>mimadm : 1/14/1995<br>davew : 8/24/1994<br>warfield : 3/3/1994<br>supermim : 3/16/1992<br>carol : 2/6/1992<br>carol : 1/3/1992
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<strong>#</strong> 168300
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PARAMYOTONIA CONGENITA; PMC
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PARAMYOTONIA CONGENITA OF VON EULENBURG<br />
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PARALYSIS PERIODICA PARAMYOTONICA
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Other entities represented in this entry:
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PARAMYOTONIA CONGENITA WITHOUT COLD PARALYSIS, INCLUDED
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<strong>SNOMEDCT:</strong> 41574007;
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<strong>ICD10CM:</strong> G71.19;
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<strong>ORPHA:</strong> 684;
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<strong>DO:</strong> 0111538;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus <br /> MIM number
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17q23.3
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Paramyotonia congenita
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168300
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Autosomal dominant
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3
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SCN4A
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603967
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because paramyotonia congenita (PMC) is caused by heterozygous mutation in the voltage-gated sodium channel alpha-subunit gene (SCN4A; 603967) on chromosome 17q23.</p><p>Allelic disorders with overlapping phenotypes include hyperkalemic periodic paralysis (HYPP; 170500) and the potassium-aggravated myotonias (608390).</p><p>See also autosomal dominant myotonia congenita (160800), which is caused by mutation in the CLCN1 gene (118425).</p>
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<strong>Description</strong>
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<p>Paramyotonia congenita (PMC) is an autosomal dominant myotonic disorder characterized by cold-induced prolonged localized muscle contraction and weakness. Patients may experience episodes of generalized weakness (periodic paralysis) unassociated with cold exposure (summary by Ptacek et al., 1992). </p>
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<strong>Clinical Features</strong>
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<p>The characteristics of paramyotonia congenita, first described by von Eulenburg (1886), are (1) inheritance as a dominant with high penetrance; (2) myotonia, increased by exposure to cold; (3) intermittent flaccid paresis, not necessarily dependent on cold or myotonia; (4) lability of serum potassium; (5) nonprogressive nature; and (6) lack of atrophy or hypertrophy of muscles.</p><p>Lajoie (1961) described a family with many affected members. The condition, which was already evident in infancy, was manifested mainly by paralysis of muscles exposed to cold; it was not progressive, did not interfere with a reasonably normal social and economic life, and did not affect longevity. Drager et al. (1958) found 30 affected members in 6 generations of a family. Hudson (1963), who reported 17 affected persons in 5 generations of a family, commented on the phenotypic overlap of this condition with hypokalemic, eukalemic, and hyperkalemic periodic paralysis, with myotonia congenita, and with myotonic dystrophy. Six and possibly 9 generations had affected members in the French-Canadian family reported by Samaha (1964). Eating ice cream or swimming in cold water was dangerous to affected members. Serum potassium levels were moderately increased and the patients were sensitive to administered potassium. Chlorothiazide was remarkably beneficial. Becker (1970) gave an extensive review of the subject and described studies in 18 kindreds. </p><p>In electrophysiologic studies of 5 unrelated patients with PMC, Ricker et al. (1986) concluded that slowed muscle relaxation precipitated by cooling the muscle contributed to paramyotonic stiffness. </p><p>Borg et al. (1993) described a large Swedish family with paramyotonia congenita. Clinical features included cold-induced myotonia, attacks of weakness, persistent weakness, and some signs of muscle affection. Muscle action potentials decreased significantly after cooling. An ancestor of the family, who had myotonia, lived in the same town at the same time as Albert Eulenburg. Borg et al. (1993) suggested that their family was part of the originally described kindred (Eulenburg, 1886). </p><p>Sasaki et al. (1999) reported a 4-generation Japanese family in which 9 members were affected with PMC. The proband was a 16-year-old girl who began to experience muscle stiffness in her face, hands, and limbs on exposure to cold at the age of 4 years. She showed grip and percussion myotonia in her hands which was aggravated by exercise (paradoxical myotonia), and hand muscle weakness after cold exposure. Serum potassium was normal. There were no episodes of generalized weakness. Other family members had the same symptoms and signs, and only 3 reported episodes of generalized paralysis, always after exposure to cold. </p><p>Miller et al. (2004) identified mutations in the SCN4A gene in 49 of 56 patients with PMC. The average age at onset in all patients, with or without mutations, was 3 to 4 years. Clinical myotonia was present in all patients, and all of those tested showed increased myotonia in response to cold temperature. Approximately half of patients had mild muscle weakness, and most patients had increased serum creatine kinase. In a diagnostic flow chart for the periodic paralyses, Miller et al. (2004) indicated that PMC shows early age at onset and is characterized by frequent attacks lasting less than 24 hours with normal serum potassium levels. </p><p>Petitprez et al. (2008) reported a large family with autosomal dominant myotonia associated with a heterozygous mutation in the SCN4A gene (603967.0029). Age at onset ranged from 4 to 22 years. All patients reported muscle stiffness, which occurred upon starting movement after a time of motor rest, especially when the rest period followed physical activity. The duration of the stiffness was usually very short, sometimes only seconds, and improved with repetitive movement. Most reported worsening of symptoms during exposure to cold, and approximately half reported worsening after fasting. Many patients reported worsening of symptoms with mental stress and pregnancy, worsening in puberty for those with childhood onset, and improvement in older age. Muscle weakness was not reported. </p><p>Dupre et al. (2009) reported 14 French Canadian patients from 9 unrelated families with myotonia caused by SCN4A mutations (see, e.g., 603967.0007). The mean age at onset was 17.7 years (range, 3 to 56). The most common clinical features included lip myotonia (57%), percussion myotonia (86%), handgrip myotonia (71%), warm-up phenomenon (79%), generalized stiffness (64%), muscle pain (64%), and exacerbation with cold temperatures (79%). Less common features included lid lag (21%), tongue myotonia (28%), and generalized hypertrophy (21%). None had weakness. Among female patients, 38% reported aggravation of symptoms during menstruation or pregnancy, and alleviation after menopause. One patient reported improvement with alcohol. Although many patients (43%) tried medication, only a few (28%) had relief. The most effective medications were mexiletine and carbamazepine, followed by phenytoin. Electrophysiologic studies showed similar myotonia and decremental CMAP responses as patients with heterozygous mutations in the CLCN1 (118425) gene. </p><p><strong><em>Paramyotonia without Cold Paralysis</em></strong></p><p>
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Brungger and Kaeser (1977) described an extensive kindred in which at least 26 members had paramyotonia congenita. Cold paralysis never occurred spontaneously and could not be induced by immersion in cold water or by potassium load. The findings supported the conclusion by DeJong (1955) of a separate form of paramyotonia without cold paralysis. </p><p>Koch et al. (1995) reported 3 unrelated 3-generation pedigrees of German extraction which segregated paramyotonia congenita without paralysis on exposure to cold. The probands were only mildly affected. There was muscle stiffness in the cold, but never any weakness, even in a muscle contraction measurement registered by a standardized forearm cooling test. The authors stated that the absence of weakness after exposure to cold or exercise distinguished the phenotype from classic paramyotonia congenita of Eulenburg. </p><p>Davies et al. (2000) reported an Irish family in which 5 members were affected with paramyotonia without periodic paralysis ('pure paramyotonia.') The proband developed symptoms in childhood consisting of spasms of muscle stiffness that preferentially affected the hands and face. Symptoms tended to worsen with exertion (paradoxical myotonia), but the most marked exacerbation occurred in cold weather. There was no history of periodic paralysis or progressive muscle weakness. Physical exam showed myotonia, and electromyography (EMG) showed profuse myotonic discharges. On cooling, there was a 78% drop in compound muscle action potential amplitude. Four other family members had a similar clinical history. Davies et al. (2000) identified a point mutation in the SCN4A gene (603967.0019) that segregated with the disease phenotype in this family. </p><p><strong><em>Clinical Variability</em></strong></p><p>
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McClatchey et al. (1992) described a 3-generation Finnish family in which affected members had a disorder with features of both PMC and HYPP. The proband and her brother had infrequent attacks of muscle weakness while resting after exercise, myotonia, and hyperkalemia, typical of HYPP. Their father complained of nocturnal and cold-induced weakness consistent with PMC. Some other members of the family had myotonic features, limb stiffness, and myotonia precipitated by cold. McClatchey et al. (1992) also reported an Italian family with PMC and suggested that some members had a phenotype consistent with myotonia congenita (widespread spontaneous myotonia even without cooling). Both families were found to have mutations in the SCN4A gene (603967.0005-603967.0006). </p><p>Kelly et al. (1997) described a large kindred in which affected members were phenotypically heterogeneous with episodic potassium-sensitive paralysis as well as stiffness and weakness induced by exercise and cold. A mutation in the SCN4A gene (603967.0002) was identified. The authors noted that the same mutation had previously been described in families with only HYPP (see Rojas et al., 1991). </p><p>Brancati et al. (2003) reported an Italian kindred with 9 individuals affected with a severe form of HYPP and mild features of paramyotonia congenita. Onset of paralytic episodes was in the first 6 to 12 months in all patients. The episodes were frequent, 2 to 3 times per week, lasting 10 minutes to 2 hours, and were usually accompanied by muscle stiffness, usually of the lower limbs. During adolescence, episodes were precipitated by rest after exercise, cold, alcohol intake, and fasting. The frequency and severity of attacks worsened over the years, occurring daily and spontaneously. Five of 6 patients had normal serum potassium during attacks. Diffuse interictal weakness, primarily in the proximal muscles, occurred around the fourth to fifth decade. </p><p>Gay et al. (2008) described a female infant with severe fatal neonatal nondystrophic myotonia who presented with facial dysmorphism, muscle hypertrophy, severe constipation, psychomotor delay, and frequent cold-induced episodes of myotonia and muscle weakness, leading to severe hypoxia and loss of consciousness; she died at 20 months of age following a bronchopulmonary infection. </p><p>Matthews et al. (2008) reported a woman with classic PMC who had 2 affected children who presented with transient neonatal hypotonia. The older child recovered fully from the neonatal hypotonia and later developed classic PMC at age 3 years. The authors identified 4 additional cases from 3 additional families with transient neonatal hypotonia. Some of the patients required feeding or respiratory assistance, and all later developed classic PMC by age 5 years. All of these patients had the same missense mutation in the SCN4A gene (I693T; 603967.0028). Earlier generations of 3 of the families reported a history of PMC without neonatal hypotonia. The findings expanded the phenotypic spectrum of PMC to include neonatal hypotonia. </p><p>Matthews et al. (2011) reported a boy with PMC who presented with neonatal inspiratory stridor and poor feeding. Laryngoscopy showed findings consistent with laryngomalacia. He continued to have stridor for the first 6 months of life, and later motor milestones were mildly delayed. In early childhood, he was noted to have frequent episodic muscle weakness and stiffness associated with cold weather. At age 4 years, he continued to have episodes of inspiratory stridor exacerbated by viral illness, cold weather, and prolonged laughing or crying. His mother, grandfather, and great-uncle reported similar episodes of muscle stiffness and weakness exacerbated by cold and exercise. All were found to carry a heterozygous mutation in the SCN4A gene (T1313M; 603967.0008). </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of PMC in the families reported by Ptacek et al. (1992) was consistent with autosomal dominant inheritance. </p>
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<p>Among 22 patients with PMC, 14 with sodium channel myotonia, and 18 myotonia patients with mutations in the CLCN1 gene (118425), Fournier et al. (2006) found that cold temperature was able to exaggerate EMG findings in a way that enabled a clear correlation between EMG findings and genetic defects. Those with PMC showed a clear worsening of compound muscle action potential with cold temperature. Those with sodium channel myotonia tended not to show a decline in compound action muscle potentials, whereas those with myotonia due to CLCN1 mutations tended to show improvement of the muscle potential with exercise, concomitant with the clinical warm-up phenomenon. </p>
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<p>Ptacek et al. (1991) found that paramyotonia congenita is linked to the gene for the muscle sodium channel subunit, SCN4A (lod score of 4.4 at theta = 0.0 at assumed penetrance of 0.95). This gene was also shown to be tightly linked to hyperkalemic periodic paralysis, which in some cases is associated with myotonia, and the authors suggested that PMC and HYPP are allelic disorders. In a linkage analysis of 17 well-defined families with PMC, Koch et al. (1991) found strong linkage to the SCN4A gene (maximum lod score of 20.61 at theta = 0.001). No recombination event was found between paramyotonia congenita and the SCN4A gene. </p>
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<p>In patients with PMC from 3 families, Ptacek et al. (1992) identified heterozygous mutations in the SCN4A gene (603967.0003-603967.0004). </p><p>In 2 families with PMC, McClatchey et al. (1992) identified heterozygous mutations in the SCN4A gene (603967.0007-603967.0008). McClatchey et al. (1992) suggested that these are examples of molecular definition of temperature-sensitive mutations in the human. At normal temperatures, the mutation may have minimal clinical significance; however, even a minor drop in temperature may impede movement of the channel loop enough to allow an abnormal sodium flux. </p><p>In 3 families with paramyotonia without cold paralysis, Koch et al. (1995) found the same novel missense mutation in the SCN4A gene (V1293I; 603967.0013). In a family affected with PMC without periodic paralysis, Davies et al. (2000) identified a mutation in the SCN4A gene (G1456E; 603967.0019), and Sasaki et al. (1999) identified the same mutation in a family with PMC in which only 3 members showed periodic paralysis. </p><p>In a female infant with severe fatal neonatal nondystrophic myotonia and overlapping features of PMC and HYPP, Gay et al. (2008) identified a heterozygous mutation (N1297K; 603967.0027) in the SCN4A gene. </p>
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<p>Rossignol et al. (2007) identified a heterozygous founder mutation in the SCN4A gene (M1476I; 603967.0026) in 44 patients from 11 French Canadian families with a myotonia phenotype most consistent with paramyotonia congenita. The patients originated from the Saguenay-Lac-Saint-Jean region with notable clustering around Saint-Felicien, and haplotype analysis indicated a founder effect. The phenotype was quite variable, with age at onset ranging from 5 to 67 years (mean, 21 years) and patients showing mild (61%) to severe (14%) symptoms. Eleven (25%) patients were asymptomatic despite myotonic discharges on EMG. The most consistent features were cold-induced myotonia (41%) and painful myotonia (18%). Other variable features included aggravation of symptoms with pregnancy, myotonic reactions to anesthesia, food-induced paralysis, and rhabdomyolysis. Potassium challenge was not conducted. </p>
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</span>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Nomenclature</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Lehmann-Horn et al. (1993) suggested the term 'sodium channel disease' to encompass the different allelic syndromes caused by SCN4A mutations. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>History</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Chitayat et al. (1987) found a suggestion of linkage of typical paramyotonia congenita to APOC2 (608083) on chromosome 19. The maximum lod score was 1.5 at theta = 0.0. They raised the possibility that PMC is caused by a mutation at the same locus as DM (160900), which is linked to APOC2. Koch et al. (1988, 1989) presented linkage data excluding the paramyotonia congenita locus from much of chromosome 19, and specifically excluding the possibility that it is allelic to DM. Bender et al. (1989) found a suggestion of linkage to haptoglobin (140100) on chromosome 16 (maximum lod score of 1.16 at theta = 0.16.) </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Haynes and Thrush (1972); Magee (1966); Thomasen (1948); Thrush et
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al. (1972)
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Becker, P. E.
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<strong>Paramyotonia congenita (Eulenburg). Fortschritte der Allgemeinen und Klinischen.</strong>
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Humangenetik 3: 134 only, 1970.
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<p class="mim-text-font">
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Bender, K., Senff, H., Steiert, A., Lagodny, H., Wienker, T. F., Koch, M.
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<strong>Linkage studies of myotonia congenita and paramyotonia congenita.</strong>
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Eulenburg, A.
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<strong>Ueber eine familiare, durch 6 generationen verfolgbare Form congenitaler Paramyotonie.</strong>
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Neurologisches Centralblatt 12: 265-272, 1886.
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Fournier, E., Viala, K., Gervais, H., Sternberg, D., Arzel-Hezode, M., Laforet, P., Eymard, B., Tabti, N., Willer, J.-C., Vial, C., Fontaine, B.
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Gay, S., Dupuis, D., Faivre, L., Masurel-Paulet, A., Labenne, M., Colombani, M., Soichot, P., Huet, F., Hainque, B., Sternberg, D., Fontaine, B., Gouyon, J.-B., Thauvin-Robinet, C.
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<strong>Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene.</strong>
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Brain 95: 553-558, 1972.
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Kelly, P., Yang, W. S., Costigan, D., Farrell, M. A., Murphy, S., Hardiman, O.
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<strong>Paramyotonia congenita and hyperkalemic periodic paralysis associated with a met1592-to-val substitution in the skeletal muscle sodium channel alpha subunit--a large kindred with a novel phenotype.</strong>
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Koch, M. C., Baumbach, K., George, A. L., Ricker, K.
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<strong>Paramyotonia congenita without paralysis on exposure to cold: a novel mutation in the SCN4A gene (val1293ile).</strong>
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Neuroreport 6: 2001-2004, 1995.
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Koch, M. C., Ricker, K., Otto, M., Grimm, T., Bender, K., Zoll, B., Harper, P. S., Lehmann-Horn, F., Rudel, R., Hoffman, E. P.
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<strong>Linkage data suggesting allelic heterogeneity for paramyotonia congenita and hyperkalemic periodic paralysis on chromosome 17.</strong>
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Koch, M., Harley, H., Grimm, T., Sarfarazi, M., Muller, B., Zoll, B., Harper, P. S.
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<strong>Paramyotonia congenita and myotonic dystrophy are not allelic disorders.</strong>
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Magee, K. R.
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<strong>Paramyotonia congenita: associated with cutaneous cold sensitivity and description of peculiar sustained postures after muscle contraction.</strong>
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Arch. Neurol. 14: 590-594, 1966.
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<p class="mim-text-font">
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Matthews, E., Guet, A., Mayer, M., Vicart, S., Pemble, S., Sternberg, D., Fontaine, B., Hanna, M. G.
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<strong>Neonatal hypotonia can be a sodium channelopathy: recognition of a new phenotype.</strong>
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</p>
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<p class="mim-text-font">
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Matthews, E., Manzur, A. Y., Sud, R., Muntoni, F., Hanna, M. G.
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<p class="mim-text-font">
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McClatchey, A. I., McKenna-Yasek, D., Cros, D., Worthen, H. G., Kuncl, R. W., DeSilva, S. M., Cornblath, D. R., Gusella, J. F., Brown, R. H., Jr.
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<strong>Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel.</strong>
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McClatchey, A. I., Van den Bergh, P., Pericak-Vance, M. A., Raskind, W., Verellen, C., McKenna-Yasek, D., Rao, K., Haines, J. L., Bird, T., Brown, R. H., Jr., Gusella, J. F.
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<strong>Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita.</strong>
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<p class="mim-text-font">
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Miller, T. M., Dias da Silva, M. R., Miller, H. A., Kwiecinski, H., Mendell, J. R., Tawil, R., McManis, P., Griggs, R. C., Angelini, C., Servidei, S., Petajan, J., Dalakas, M. C., Ranum, L. P. W., Fu, Y. H., Ptacek, L. J.
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<p class="mim-text-font">
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<strong>A novel dominant mutation of the Na(v)1.4 alpha-subunit domain I leading to sodium channel myotonia.</strong>
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<p class="mim-text-font">
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Ptacek, L. J., George, A. L., Jr., Barchi, R. L., Griggs, R. C., Riggs, J. E., Robertson, M., Leppert, M. F.
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<strong>Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita.</strong>
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<strong>Paramyotonia congenita and hyperkalemic periodic paralysis map to the same sodium-channel gene locus.</strong>
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Ricker, K., Rudel, R., Lehmann-Horn, F., Kuther, G.
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Rojas, C. V., Wang, J., Schwartz, L. S., Hoffman, E. P., Powell, B. R., Brown, R. H., Jr.
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<strong>A met-to-val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis.</strong>
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Rossignol, E., Mathieu, J., Thiffault, I., Tetreault, M., Dicaire, M.-J., Chrestian, N., Dupre, N., Puymirat, J., Brais, B.
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Thomasen, E.
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<strong>Myotonia: Thomsen's Disease (Myotonia Congenita), Paramyotonia, and Dystrophia Myotonica. A Clinical and Heredobiologic Investigation.</strong>
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Thrush, D. C., Morris, C. J., Salmon, M. V.
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<strong>Paramyotonia congenita: a clinical, histochemical and pathological study.</strong>
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