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<meta name="keywords" content="C2931826, disease or syndrome, k+-aggravated myotonia, k-aggravated myotonia, laryngospasm, severe neonatal episodic, myotonia congenita, acetazolamide-responsive, myotonia congenita, atypical, myotonia congenita, atypical, acetazolamide-responsive, myotonia fluctuans, myotonia permanens, myotonia, potassium-aggravated, pam, potassium aggravated myotonia, potassium-aggravated myotonia, scn4a, sodium channel muscle disease, sodium channel myotonia, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="In a report on the 37th ENMC Workshop, Rudel and Lehmann-Horn (1997) stated that the sodium channelopathies can be divided into 3 different forms: paramyotonia, potassium-aggravated myotonia, and periodic paralysis. Potassium-aggravated myotonia includes mild myotonia fluctuans, severe myotonia permanens, and acetazolamide-responsive myotonia." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=444151
|
||
ConceptID=C2931826
|
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-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Potassium-aggravated myotonia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>444151</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C2931826</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>MYOTONIA CONGENITA, ACETAZOLAMIDE-RESPONSIVE; MYOTONIA CONGENITA, ATYPICAL; SODIUM CHANNEL MUSCLE DISEASE</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Potassium aggravated myotonia (702355008); Sodium channel myotonia (702355008)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="SCN4A - ID: 6329 - NCBI Gene" href="/gene/6329" class="medgenPMinfo">SCN4A</a> (17q23.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0018959" target="_blank">MONDO:0018959</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/608390" target="_blank">608390</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=612">ORPHA612</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_100">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">In a report on the 37th ENMC Workshop, Rudel and Lehmann-Horn (1997) stated that the sodium channelopathies can be divided into 3 different forms: paramyotonia, potassium-aggravated myotonia, and periodic paralysis. Potassium-aggravated myotonia includes mild myotonia fluctuans, severe myotonia permanens, and acetazolamide-responsive myotonia. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Potassium-aggravated myotonia is a disorder that affects muscles used for movement (skeletal muscles). Beginning in childhood or adolescence, people with this condition experience episodes of sustained muscle tensing (myotonia) that prevent muscles from relaxing. Myotonia causes muscle stiffness that worsens after exercise. In this disorder, episodes of myotonia may also be triggered (aggravated) by eating foods that are high in the mineral potassium, such as bananas and potatoes. During these episodes, stiffness occurs in skeletal muscles throughout the body. <br /><br />Potassium-aggravated myotonia ranges in severity from mild episodes of muscle stiffness (myotonia fluctuans) to severe, disabling disease with frequent attacks (myotonia permanen). Unlike some other forms of myotonia, potassium-aggravated myotonia is not associated with episodes of muscle weakness.<br /><br /> <a target="_blank" href="https://medlineplus.gov/genetics/condition/potassium-aggravated-myotonia">https://medlineplus.gov/genetics/condition/potassium-aggravated-myotonia</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_68541"><div><strong>Myalgia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68541</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0231528</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pain in muscle.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68541">Feature record</a> | <a href="/medgen?term=%22Myalgia%22%5BClinical%20Features%5D%20OR%2068541%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57735"><div><strong>Muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57735</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0151786</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced strength of muscles.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57735">Feature record</a> | <a href="/medgen?term=%22Muscle%20weakness%22%5BClinical%20Features%5D%20OR%2057735%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_113151"><div><strong>Muscle stiffness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>113151</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0221170</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A condition in which muscles cannot be moved quickly without accompanying pain or spasm.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/113151">Feature record</a> | <a href="/medgen?term=%22Muscle%20stiffness%22%5BClinical%20Features%5D%20OR%20113151%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_892680"><div><strong>Muscular atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892680</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0541794</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of skeletal muscular atrophy (which is also known as amyotrophy).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892680">Feature record</a> | <a href="/medgen?term=%22Muscular%20atrophy%22%5BClinical%20Features%5D%20OR%20892680%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_675119"><div><strong>Myotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>675119</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0700153</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/675119">Feature record</a> | <a href="/medgen?term=%22Myotonia%22%5BClinical%20Features%5D%20OR%20675119%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_148293"><div><strong>Percussion myotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>148293</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0751359</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A localized myotonic contraction in a muscle in reaction to percussion (tapping with the examiner's finger, a rubber percussion hammer, or a similar object).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/148293">Feature record</a> | <a href="/medgen?term=%22Percussion%20myotonia%22%5BClinical%20Features%5D%20OR%20148293%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_357016"><div><strong>Handgrip myotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>357016</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1868623</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Difficulty releasing one's grip associated with prolonged first handgrip relaxation times.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/357016">Feature record</a> | <a href="/medgen?term=%22Handgrip%20myotonia%22%5BClinical%20Features%5D%20OR%20357016%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_853739"><div><strong>Skeletal muscle hypertrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>853739</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2265792</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal increase in muscle size and mass not due to training.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/853739">Feature record</a> | <a href="/medgen?term=%22Skeletal%20muscle%20hypertrophy%22%5BClinical%20Features%5D%20OR%20853739%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_44071"><div><strong>Laryngospasm</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44071</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0023066</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A spasm (involuntary contraction) of the vocal cords that can make it difficult to speak or breathe.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/44071">Feature record</a> | <a href="/medgen?term=%22Laryngospasm%22%5BClinical%20Features%5D%20OR%2044071%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_11613"><div><strong>Stridor</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11613</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0038450</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Stridor is a high pitched sound resulting from turbulent air flow in the upper airway.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11613">Feature record</a> | <a href="/medgen?term=%22Stridor%22%5BClinical%20Features%5D%20OR%2011613%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_814310"><div><strong>Apneic episodes in infancy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>814310</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3807980</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Recurrent episodes of apnea occurring during infancy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/814310">Feature record</a> | <a href="/medgen?term=%22Apneic%20episodes%20in%20infancy%22%5BClinical%20Features%5D%20OR%20814310%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_69128"><div><strong>Elevated circulating creatine kinase concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>69128</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0241005</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/69128">Feature record</a> | <a href="/medgen?term=%22Elevated%20circulating%20creatine%20kinase%20concentration%22%5BClinical%20Features%5D%20OR%2069128%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_69128" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated circulating creatine kinase concentration</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_357016" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Handgrip myotonia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_113151" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscle stiffness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57735" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscle weakness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892680" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_675119" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myotonia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_148293" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Percussion myotonia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_853739" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Skeletal muscle hypertrophy</a></span></li></ul></li><li><span class="TLline">Abnormality of the respiratory system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_814310" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Apneic episodes in infancy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_44071" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Laryngospasm</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11613" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Stridor</a></span></li></ul></li><li><span class="TLline">Constitutional symptom</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68541" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myalgia</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2931826[DISCUI]&test_type=Clinical" ref="ncbi_uid=444151">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=444151" target="_blank" href="/omim/603967">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=444151" ref="ncbi_uid=444151">V</a></span></span><span class="TLline">Potassium-aggravated myotonia</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1763488" ref="tree=MeSH" title="MedGen record for Abnormality of the musculoskeletal system">Abnormality of the musculoskeletal system</a></span><ul><li><span class="TLline"><a href="/medgen/867380" ref="tree=MeSH" title="MedGen record for Abnormality of the musculature">Abnormality of the musculature</a></span><ul><li><span class="TLline"><a href="/medgen/868776" ref="tree=MeSH" title="MedGen record for Abnormal skeletal muscle morphology">Abnormal skeletal muscle morphology</a></span><ul><li><span class="TLline"><a href="/medgen/10135" ref="tree=MeSH" title="MedGen record for Myopathy">Myopathy</a></span><ul><li><span class="TLline"><a href="/medgen/107510" ref="tree=MeSH" title="MedGen record for Myotonic syndrome">Myotonic syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/741982" ref="tree=MeSH" title="MedGen record for Non dystrophic myotonia">Non dystrophic myotonia</a></span><ul><li><span class="matched_ds">Potassium-aggravated myotonia</span><ul><li><span class="TLline"><a href="/medgen/902539" ref="tree=MeSH" title="MedGen record for Acetazolamide-responsive myotonia">Acetazolamide-responsive myotonia</a></span></li><li><span class="TLline"><a href="/medgen/156269" ref="tree=MeSH" title="MedGen record for Myotonia fluctuans">Myotonia fluctuans</a></span></li><li><span class="TLline"><a href="/medgen/1845910" ref="tree=MeSH" title="MedGen record for Myotonia permanens">Myotonia permanens</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=610&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Potassium-aggravated myotonia</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/8902732">Paramyotonia congenita: genotype to phenotype correlations in two families and report of a new mutation in the sodium channel gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Plassart E,
|
||
Eymard B,
|
||
Maurs L,
|
||
Hauw JJ,
|
||
Lyon-Caen O,
|
||
Fardeau M,
|
||
Fontaine B</span><br />
|
||
<span class="medgenPMjournal">J Neurol Sci</span>
|
||
1996 Oct;142(1-2):126-33.
|
||
doi: 10.1016/0022-510x(96)00173-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8902732" target="_blank">8902732</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22potassium-aggravated%20myotonia%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (1)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28012096">A Sodium Channel Myotonia Presenting with Intermittent Dysphagia as a Manifestation of a Rare SCN4A Variant.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Benhammou JN,
|
||
Phan J,
|
||
Lee H,
|
||
Ghassemi K,
|
||
Parsons W,
|
||
Grody WW,
|
||
Pisegna JR</span><br />
|
||
<span class="medgenPMjournal">J Mol Neurosci</span>
|
||
2017 Mar;61(3):312-314.
|
||
Epub 2016 Dec 23
|
||
doi: 10.1007/s12031-016-0878-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28012096" target="_blank">28012096</a><a href="/pmc/articles/PMC5346050" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18166706">What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Matthews E,
|
||
Tan SV,
|
||
Fialho D,
|
||
Sweeney MG,
|
||
Sud R,
|
||
Haworth A,
|
||
Stanley E,
|
||
Cea G,
|
||
Davis MB,
|
||
Hanna MG</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2008 Jan 1;70(1):50-3.
|
||
doi: 10.1212/01.wnl.0000287069.21162.94.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18166706" target="_blank">18166706</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11216900">Inherited ion channel disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Surtees R</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
2000 Dec;159 Suppl 3:S199-203.
|
||
doi: 10.1007/pl00014403.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11216900" target="_blank">11216900</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Potassium-aggravated%20myotonia%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (3)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32327288">"Status myotonicus" in Na(v)1.4-M1592V channelopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rempe T,
|
||
Subramony SH</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2020 May;30(5):424-426.
|
||
Epub 2020 Mar 12
|
||
doi: 10.1016/j.nmd.2020.03.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32327288" target="_blank">32327288</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32270509">Guidelines on clinical presentation and management of nondystrophic myotonias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stunnenberg BC,
|
||
LoRusso S,
|
||
Arnold WD,
|
||
Barohn RJ,
|
||
Cannon SC,
|
||
Fontaine B,
|
||
Griggs RC,
|
||
Hanna MG,
|
||
Matthews E,
|
||
Meola G,
|
||
Sansone VA,
|
||
Trivedi JR,
|
||
van Engelen BGM,
|
||
Vicart S,
|
||
Statland JM</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2020 Oct;62(4):430-444.
|
||
Epub 2020 May 27
|
||
doi: 10.1002/mus.26887.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32270509" target="_blank">32270509</a><a href="/pmc/articles/PMC8117169" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30898413">Herculean Boy With Facial Myokymia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sharawat IK,
|
||
Kasinathan A,
|
||
Suthar R,
|
||
Sankhyan N</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2019 Jul;96:79-80.
|
||
Epub 2019 Feb 20
|
||
doi: 10.1016/j.pediatrneurol.2019.02.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30898413" target="_blank">30898413</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26944947">Flecainide-Responsive Myotonia Permanens With SNEL Onset: A New Case and Literature Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Portaro S,
|
||
Rodolico C,
|
||
Sinicropi S,
|
||
Musumeci O,
|
||
Valenzise M,
|
||
Toscano A</span><br />
|
||
<span class="medgenPMjournal">Pediatrics</span>
|
||
2016 Apr;137(4)
|
||
Epub 2016 Mar 4
|
||
doi: 10.1542/peds.2015-3289.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26944947" target="_blank">26944947</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17395134">The nondystrophic myotonias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Heatwole CR,
|
||
Moxley RT 3rd</span><br />
|
||
<span class="medgenPMjournal">Neurotherapeutics</span>
|
||
2007 Apr;4(2):238-51.
|
||
doi: 10.1016/j.nurt.2007.01.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17395134" target="_blank">17395134</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Potassium-aggravated%20myotonia%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (16)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32270509">Guidelines on clinical presentation and management of nondystrophic myotonias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stunnenberg BC,
|
||
LoRusso S,
|
||
Arnold WD,
|
||
Barohn RJ,
|
||
Cannon SC,
|
||
Fontaine B,
|
||
Griggs RC,
|
||
Hanna MG,
|
||
Matthews E,
|
||
Meola G,
|
||
Sansone VA,
|
||
Trivedi JR,
|
||
van Engelen BGM,
|
||
Vicart S,
|
||
Statland JM</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2020 Oct;62(4):430-444.
|
||
Epub 2020 May 27
|
||
doi: 10.1002/mus.26887.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32270509" target="_blank">32270509</a><a href="/pmc/articles/PMC8117169" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29774303">Myotonia permanens with Nav1.4-G1306E displays varied phenotypes during course of life.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lehmann-Horn F,
|
||
D'Amico A,
|
||
Bertini E,
|
||
Lomonaco M,
|
||
Merlini L,
|
||
Nelson KR,
|
||
Philippi H,
|
||
Siciliano G,
|
||
Spaans F,
|
||
Jurkat-Rott K</span><br />
|
||
<span class="medgenPMjournal">Acta Myol</span>
|
||
2017 Sep;36(3):125-134.
|
||
Epub 2017 Sep 1
|
||
<span class="bold">PMID: </span><a href="/pubmed/29774303" target="_blank">29774303</a><a href="/pmc/articles/PMC5953224" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26944947">Flecainide-Responsive Myotonia Permanens With SNEL Onset: A New Case and Literature Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Portaro S,
|
||
Rodolico C,
|
||
Sinicropi S,
|
||
Musumeci O,
|
||
Valenzise M,
|
||
Toscano A</span><br />
|
||
<span class="medgenPMjournal">Pediatrics</span>
|
||
2016 Apr;137(4)
|
||
Epub 2016 Mar 4
|
||
doi: 10.1542/peds.2015-3289.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26944947" target="_blank">26944947</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22106717">A novel N440K sodium channel mutation causes myotonia with exercise-induced weakness--exclusion of CLCN1 exon deletion/duplication by MLPA.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lehmann-Horn F,
|
||
Orth M,
|
||
Kuhn M,
|
||
Jurkat-Rott K</span><br />
|
||
<span class="medgenPMjournal">Acta Myol</span>
|
||
2011 Oct;30(2):133-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22106717" target="_blank">22106717</a><a href="/pmc/articles/PMC3235863" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16931510">Muscle Na+ channelopathies: MRI detects intracellular 23Na accumulation during episodic weakness.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Weber MA,
|
||
Nielles-Vallespin S,
|
||
Essig M,
|
||
Jurkat-Rott K,
|
||
Kauczor HU,
|
||
Lehmann-Horn F</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2006 Oct 10;67(7):1151-8.
|
||
Epub 2006 Aug 23
|
||
doi: 10.1212/01.wnl.0000233841.75824.0f.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16931510" target="_blank">16931510</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Potassium-aggravated%20myotonia%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (7)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/29774303">Myotonia permanens with Nav1.4-G1306E displays varied phenotypes during course of life.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lehmann-Horn F,
|
||
D'Amico A,
|
||
Bertini E,
|
||
Lomonaco M,
|
||
Merlini L,
|
||
Nelson KR,
|
||
Philippi H,
|
||
Siciliano G,
|
||
Spaans F,
|
||
Jurkat-Rott K</span><br />
|
||
<span class="medgenPMjournal">Acta Myol</span>
|
||
2017 Sep;36(3):125-134.
|
||
Epub 2017 Sep 1
|
||
<span class="bold">PMID: </span><a href="/pubmed/29774303" target="_blank">29774303</a><a href="/pmc/articles/PMC5953224" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16624558">A new case of autosomal dominant myotonia associated with the V1589M missense mutation in the muscle sodium channel gene and its phenotypic classification.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ferriby D,
|
||
Stojkovic T,
|
||
Sternberg D,
|
||
Hurtevent JF,
|
||
Hurtevent JP,
|
||
Vermersch P</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2006 May;16(5):321-4.
|
||
Epub 2006 Apr 19
|
||
doi: 10.1016/j.nmd.2006.01.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16624558" target="_blank">16624558</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12685554">Muscle biopsy and cell cultures: potential diagnostic tools in hereditary skeletal muscle channelopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meola G,
|
||
Sansone V,
|
||
Rotondo G,
|
||
Mancinelli E</span><br />
|
||
<span class="medgenPMjournal">Eur J Histochem</span>
|
||
2003;47(1):17-28.
|
||
doi: 10.4081/803.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12685554" target="_blank">12685554</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10366610">Activation and inactivation of the voltage-gated sodium channel: role of segment S5 revealed by a novel hyperkalaemic periodic paralysis mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bendahhou S,
|
||
Cummins TR,
|
||
Tawil R,
|
||
Waxman SG,
|
||
Ptácek LJ</span><br />
|
||
<span class="medgenPMjournal">J Neurosci</span>
|
||
1999 Jun 15;19(12):4762-71.
|
||
doi: 10.1523/JNEUROSCI.19-12-04762.1999.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10366610" target="_blank">10366610</a><a href="/pmc/articles/PMC6782655" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9703437">The dominant chloride channel mutant G200R causing fluctuating myotonia: clinical findings, electrophysiology, and channel pathology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wagner S,
|
||
Deymeer F,
|
||
Kürz LL,
|
||
Benz S,
|
||
Schleithoff L,
|
||
Lehmann-Horn F,
|
||
Serdaroğlu P,
|
||
Ozdemir C,
|
||
Rüdel R</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
1998 Sep;21(9):1122-8.
|
||
doi: 10.1002/(sici)1097-4598(199809)21:9<1122::aid-mus2>3.0.co;2-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9703437" target="_blank">9703437</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Potassium-aggravated%20myotonia%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (5)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/27164696">Translational approach to address therapy in myotonia permanens due to a new SCN4A mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Desaphy JF,
|
||
Carbonara R,
|
||
D'Amico A,
|
||
Modoni A,
|
||
Roussel J,
|
||
Imbrici P,
|
||
Pagliarani S,
|
||
Lucchiari S,
|
||
Lo Monaco M,
|
||
Conte Camerino D</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2016 May 31;86(22):2100-8.
|
||
Epub 2016 Apr 29
|
||
doi: 10.1212/WNL.0000000000002721.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27164696" target="_blank">27164696</a><a href="/pmc/articles/PMC4891212" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25088311">Heterozygous CLCN1 mutations can modulate phenotype in sodium channel myotonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Furby A,
|
||
Vicart S,
|
||
Camdessanché JP,
|
||
Fournier E,
|
||
Chabrier S,
|
||
Lagrue E,
|
||
Paricio C,
|
||
Blondy P,
|
||
Touraine R,
|
||
Sternberg D,
|
||
Fontaine B</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2014 Nov;24(11):953-9.
|
||
Epub 2014 Jul 2
|
||
doi: 10.1016/j.nmd.2014.06.439.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25088311" target="_blank">25088311</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22914841">Altered fast and slow inactivation of the N440K Nav1.4 mutant in a periodic paralysis syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lossin C,
|
||
Nam TS,
|
||
Shahangian S,
|
||
Rogawski MA,
|
||
Choi SY,
|
||
Kim MK,
|
||
Sunwoo IN</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2012 Sep 4;79(10):1033-40.
|
||
Epub 2012 Aug 22
|
||
doi: 10.1212/WNL.0b013e3182684683.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22914841" target="_blank">22914841</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16931510">Muscle Na+ channelopathies: MRI detects intracellular 23Na accumulation during episodic weakness.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Weber MA,
|
||
Nielles-Vallespin S,
|
||
Essig M,
|
||
Jurkat-Rott K,
|
||
Kauczor HU,
|
||
Lehmann-Horn F</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2006 Oct 10;67(7):1151-8.
|
||
Epub 2006 Aug 23
|
||
doi: 10.1212/01.wnl.0000233841.75824.0f.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16931510" target="_blank">16931510</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10366610">Activation and inactivation of the voltage-gated sodium channel: role of segment S5 revealed by a novel hyperkalaemic periodic paralysis mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bendahhou S,
|
||
Cummins TR,
|
||
Tawil R,
|
||
Waxman SG,
|
||
Ptácek LJ</span><br />
|
||
<span class="medgenPMjournal">J Neurosci</span>
|
||
1999 Jun 15;19(12):4762-71.
|
||
doi: 10.1523/JNEUROSCI.19-12-04762.1999.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10366610" target="_blank">10366610</a><a href="/pmc/articles/PMC6782655" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Potassium-aggravated%20myotonia%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (7)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
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</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C2931826%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (31)</a></li>
|
||
<li><a href="/gtr/tests?term=C2931826%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C2931826%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (39)</a></li>
|
||
<li><a href="/gtr/tests?term=C2931826%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (7)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C2931826%5bDISCUI%5d" target="_blank">See all (47)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=608390" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=612" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Potassium-aggravated%20myotonia" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22potassium-aggravated%20myotonia%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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