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<meta name="keywords" content="C5779784, hyperpyrexia, malignant, malignant hyperthermia, malignant hyperthermia syndrome, mh, mh - malignant hyperpyrexia, mhs - malignant hyperthermia susceptibility, pathologic function, 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="Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C. Malignant hyperthermia may occur in response to either inhalational anesthetics such as halothane, to muscle relaxants such as succinylcholine, or to exercise." /><meta name="robots" content="index,nofollow,noarchive" />
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||
<!--
|
||
UID=1830388
|
||
ConceptID=C5779784
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Malignant hyperthermia<span class="h1sub">(MH)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1830388</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.">C5779784</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>HYPERPYREXIA, MALIGNANT; MH</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Malignant hyperthermia (405501007); MH - malignant hyperpyrexia (405501007); MHS - malignant hyperthermia susceptibility (405501007)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/6261">RYR1</a>, <a target="_blank" href="/gene/779">CACNA1S</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0002047">HP:0002047</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/145600" target="_blank">145600</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>
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<div class="portlet mgSection" id="ID_100">
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<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">Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C. Malignant hyperthermia may occur in response to either inhalational anesthetics such as halothane, to muscle relaxants such as succinylcholine, or to exercise. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet mgSection" id="ID_118">
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<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></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="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/1813067" ref="tree=GTR&ncbi_uid=1813067&link_uid=1813067" title="View MedGen record for 'Rare disease with malignant hyperthermia'">Rare disease with malignant hyperthermia</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1850625[DISCUI]&test_type=Clinical" ref="ncbi_uid=340586">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=340586" target="_blank" href="/omim/255995">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK542808/" ref="ncbi_uid=340586">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=340586" ref="ncbi_uid=340586">V</a></span></span><span class="TLline"><a href="/medgen/340586" ref="tree=GTR&ncbi_uid=340586&link_uid=340586" title="View MedGen record for 'Bailey-Bloch congenital myopathy'">Bailey-Bloch congenital myopathy</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1840365[DISCUI]&test_type=Clinical" ref="ncbi_uid=327082">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=327082" target="_blank" href="/omim/180901">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=327082" ref="ncbi_uid=327082">V</a></span></span><span class="TLline"><a href="/medgen/327082" ref="tree=GTR&ncbi_uid=327082&link_uid=327082" title="View MedGen record for 'King Denborough syndrome'">King Denborough syndrome</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1830388" target="_blank" href="/omim/145600">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Malignant hyperthermia</span><ul><li class="TLclosed"><span class="TLline"><a href="/medgen/1814609" ref="tree=GTR&ncbi_uid=1814609&link_uid=1814609" title="View MedGen record for 'Exercise-induced malignant hyperthermia'">Exercise-induced malignant hyperthermia</a></span><ul><li class="TLclosed"><span class="TLline"><a href="/medgen/808142" ref="tree=GTR&ncbi_uid=808142&link_uid=808142" title="View MedGen record for 'Malignant hyperthermia and exertional rhabdomyolosis'">Malignant hyperthermia and exertional rhabdomyolosis</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0024591[DISCUI]&test_type=Clinical" ref="ncbi_uid=9867">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=9867" target="_blank" href="/omim/145600">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1146/" ref="ncbi_uid=9867">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=9867" ref="ncbi_uid=9867">V</a></span></span><span class="TLline"><a href="/medgen/9867" ref="tree=GTR&ncbi_uid=9867&link_uid=9867" title="View MedGen record for 'Malignant hyperthermia of anesthesia'">Malignant hyperthermia of anesthesia</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1146/" ref="ncbi_uid=1728755">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1728755" ref="ncbi_uid=1728755">V</a></span></span><span class="TLline"><a href="/medgen/1728755" ref="tree=GTR&ncbi_uid=1728755&link_uid=1728755" title="View MedGen record for 'Malignant hyperthermia, susceptibility to'">Malignant hyperthermia, susceptibility to</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2930980[DISCUI]&test_type=Clinical" ref="ncbi_uid=443948">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=443948" target="_blank" href="/omim/145600">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1146/" ref="ncbi_uid=443948">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=443948" ref="ncbi_uid=443948">V</a></span></span><span class="TLline"><a href="/medgen/443948" ref="tree=GTR&ncbi_uid=443948&link_uid=443948" title="View MedGen record for 'Malignant hyperthermia, susceptibility to, 1'">Malignant hyperthermia, susceptibility to, 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2930981[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=419301">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=419301" target="_blank" href="/omim/154275">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1146/" ref="ncbi_uid=419301">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/419301" ref="tree=GTR&ncbi_uid=419301&link_uid=419301" title="View MedGen record for 'Malignant hyperthermia, susceptibility to, 2'">Malignant hyperthermia, susceptibility to, 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2930982[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=418956">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=418956" target="_blank" href="/omim/154276">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1146/" ref="ncbi_uid=418956">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/418956" ref="tree=GTR&ncbi_uid=418956&link_uid=418956" title="View MedGen record for 'Malignant hyperthermia, susceptibility to, 3'">Malignant hyperthermia, susceptibility to, 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1838102[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=324944">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=324944" target="_blank" href="/omim/600467">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1146/" ref="ncbi_uid=324944">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/324944" ref="tree=GTR&ncbi_uid=324944&link_uid=324944" title="View MedGen record for 'Malignant hyperthermia, susceptibility to, 4'">Malignant hyperthermia, susceptibility to, 4</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1866077[DISCUI]&test_type=Clinical" ref="ncbi_uid=356151">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=356151" target="_blank" href="/omim/114208">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1146/" ref="ncbi_uid=356151">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=356151" ref="ncbi_uid=356151">V</a></span></span><span class="TLline"><a href="/medgen/356151" ref="tree=GTR&ncbi_uid=356151&link_uid=356151" title="View MedGen record for 'Malignant hyperthermia, susceptibility to, 5'">Malignant hyperthermia, susceptibility to, 5</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1866076[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=356150">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=356150" target="_blank" href="/omim/601888">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1146/" ref="ncbi_uid=356150">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/356150" ref="tree=GTR&ncbi_uid=356150&link_uid=356150" title="View MedGen record for 'Malignant hyperthermia, susceptibility to, 6'">Malignant hyperthermia, susceptibility to, 6</a></span></li></ul></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0270962[DISCUI]&test_type=Clinical" ref="ncbi_uid=75731">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0270962[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=75731">R</a></span><span class="chiclet unavailable" title="OMIM">O</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=75731" ref="ncbi_uid=75731">V</a></span></span><span class="TLline"><a href="/medgen/75731" ref="tree=GTR&ncbi_uid=75731&link_uid=75731" title="View MedGen record for 'Multiminicore myopathy'">Multiminicore myopathy</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5830701[DISCUI]&test_type=Clinical" ref="ncbi_uid=1841337">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1841337" target="_blank" href="/omim/117000">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=1841337" ref="ncbi_uid=1841337">V</a></span></span><span class="TLline"><a href="/medgen/1841337" ref="tree=GTR&ncbi_uid=1841337&link_uid=1841337" title="View MedGen record for 'Central core myopathy'">Central core myopathy</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1850674[DISCUI]&test_type=Clinical" ref="ncbi_uid=340597">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=340597" target="_blank" href="/omim/180901">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=340597" ref="ncbi_uid=340597">V</a></span></span><span class="TLline"><a href="/medgen/340597" ref="tree=GTR&ncbi_uid=340597&link_uid=340597" title="View MedGen record for 'Congenital multicore myopathy with external ophthalmoplegia'">Congenital multicore myopathy with external ophthalmoplegia</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=347490" target="_blank" href="/omim/217150">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/347490" ref="tree=GTR&ncbi_uid=347490&link_uid=347490" title="View MedGen record for 'Multiple pterygium-malignant hyperthermia syndrome'">Multiple pterygium-malignant hyperthermia syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/10320" ref="tree=GTR&ncbi_uid=10320&link_uid=10320" title="View MedGen record for 'Neuroleptic malignant syndrome'">Neuroleptic malignant syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/152119" ref="tree=GTR&ncbi_uid=152119&link_uid=152119" title="View MedGen record for 'Serotonin syndrome'">Serotonin syndrome</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/867398" ref="tree=MeSH" title="MedGen record for Abnormality of metabolism/homeostasis">Abnormality of metabolism/homeostasis</a></span><ul><li><span class="TLline"><a href="/medgen/868551" ref="tree=MeSH" title="MedGen record for Abnormal homeostasis">Abnormal homeostasis</a></span><ul><li><span class="TLline"><a href="/medgen/330395" ref="tree=MeSH" title="MedGen record for Abnormality of temperature regulation">Abnormality of temperature regulation</a></span><ul><li><span class="matched_ds">Malignant hyperthermia</span><ul><li><span class="TLline"><a href="/medgen/1814609" ref="tree=MeSH" title="MedGen record for Exercise-induced malignant hyperthermia">Exercise-induced malignant hyperthermia</a></span><ul><li><span class="TLline"><a href="/medgen/808142" ref="tree=MeSH" title="MedGen record for Malignant hyperthermia and exertional rhabdomyolosis">Malignant hyperthermia and exertional rhabdomyolosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1624011" ref="tree=MeSH" title="MedGen record for Exercise-triggered malignant hyperthermia">Exercise-triggered malignant hyperthermia</a></span></li><li><span class="TLline"><a href="/medgen/9867" ref="tree=MeSH" title="MedGen record for Malignant hyperthermia of anesthesia">Malignant hyperthermia of anesthesia</a></span></li><li><span class="TLline"><a href="/medgen/1728755" ref="tree=MeSH" title="MedGen record for Malignant hyperthermia, susceptibility to">Malignant hyperthermia, susceptibility to</a></span><ul><li><span class="TLline"><a href="/medgen/443948" ref="tree=MeSH" title="MedGen record for Malignant hyperthermia, susceptibility to, 1">Malignant hyperthermia, susceptibility to, 1</a></span></li><li><span class="TLline"><a href="/medgen/419301" ref="tree=MeSH" title="MedGen record for Malignant hyperthermia, susceptibility to, 2">Malignant hyperthermia, susceptibility to, 2</a></span></li><li><span class="TLline"><a href="/medgen/418956" ref="tree=MeSH" title="MedGen record for Malignant hyperthermia, susceptibility to, 3">Malignant hyperthermia, susceptibility to, 3</a></span></li><li><span class="TLline"><a href="/medgen/324944" ref="tree=MeSH" title="MedGen record for Malignant hyperthermia, susceptibility to, 4">Malignant hyperthermia, susceptibility to, 4</a></span></li><li><span class="TLline"><a href="/medgen/356151" ref="tree=MeSH" title="MedGen record for Malignant hyperthermia, susceptibility to, 5">Malignant hyperthermia, susceptibility to, 5</a></span></li><li><span class="TLline"><a href="/medgen/356150" ref="tree=MeSH" title="MedGen record for Malignant hyperthermia, susceptibility to, 6">Malignant hyperthermia, susceptibility to, 6</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="divPopper rprt" id="rdis_52548"><div><strong>SUDDEN INFANT DEATH SYNDROME</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52548</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.">C0038644</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Sudden infant death syndrome (SIDS) is a diagnosis of exclusion which should be made only after a thorough autopsy without identification of a specific cause of death (Mage and Donner, 2004). Weese-Mayer et al. (2007) provided a detailed review of genetic factors that have been implicated in SIDS. The authors concluded that SIDS represents more than 1 entity and has a heterogeneous etiology most likely involving several different genetically controlled metabolic pathways.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/52548">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_120516"><div><strong>Freeman-Sheldon syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120516</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.">C0265224</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Freeman-Sheldon syndrome (FSS), or DA2A, is phenotypically similar to DA1. In addition to contractures of the hands and feet, FSS is characterized by oropharyngeal abnormalities, scoliosis, and a distinctive face that includes a very small oral orifice (often only a few millimeters in diameter at birth), puckered lips, and an H-shaped dimple of the chin; hence, FSS has been called 'whistling face syndrome.' The limb phenotypes of DA1 and FSS may be so similar that they can only be distinguished by the differences in facial morphology (summary by Bamshad et al., 2009). For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (108120).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/120516">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_371441"><div><strong>Brody myopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>371441</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.">C1832918</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Brody disease (BROD) is an autosomal recessive skeletal muscle disorder characterized by exercise-induced muscle stiffness and cramps primarily affecting the arms, legs, and eyelids, although more generalized muscle involvement may also occur. Symptom onset is most often in the first decade, but many patients present and are diagnosed later in life. Skeletal muscle biopsy typically shows variation in fiber size, increased internal nuclei, and atrophy of type II muscle fibers. Rare patients have been reported to develop malignant hyperthermia after administration of anesthesia, suggesting that patients with the disorder should be tested. The disorder results from defective relaxation of fast-twitch (type II) skeletal muscle fibers due to defects in calcium homeostasis and reuptake in the muscle fiber (summary by Odermatt et al., 2000 and Molenaar et al., 2020).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/371441">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_324944"><div><strong>Malignant hyperthermia, susceptibility to, 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324944</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.">C1838102</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Malignant hyperthermia susceptibility (MHS) is a pharmacogenetic disorder of skeletal muscle calcium regulation associated with uncontrolled skeletal muscle hypermetabolism. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine). The triggering substances cause uncontrolled release of calcium from the sarcoplasmic reticulum and may promote entry of extracellular calcium into the myoplasm, causing contracture of skeletal muscles, glycogenolysis, and increased cellular metabolism, resulting in production of heat and excess lactate. Affected individuals experience acidosis, hypercapnia, tachycardia, hyperthermia, muscle rigidity, compartment syndrome, rhabdomyolysis with subsequent increase in serum creatine kinase (CK) concentration, hyperkalemia with a risk for cardiac arrhythmia or even cardiac arrest, and myoglobinuria with a risk for renal failure. In nearly all cases, the first manifestations of MH (tachycardia and tachypnea) occur in the operating room; however, MH may also occur in the early postoperative period. There is mounting evidence that some individuals with MHS will also develop MH with exercise and/or on exposure to hot environments. Without proper and prompt treatment with dantrolene sodium, mortality is extremely high.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/324944">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_374225"><div><strong>X-linked lethal multiple pterygium syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>374225</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.">C1839440</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">X-linked lethal multiple pterygium syndrome is a rare, genetic, developmental defect during embryogenesis characterized by the typical lethal multiple pterygium syndrome presentation (comprising of multiple pterygia, severe arthrogryposis, cleft palate, cystic hygromata and/or fetal hydrops, skeletal abnormalities and fetal death in the 2nd or 3rd trimester) with an X-linked pattern of inheritance.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/374225">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_327082"><div><strong>King Denborough syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>327082</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.">C1840365</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">King-Denborough syndrome (KDS) is an autosomal dominant disorder characterized by the triad of congenital myopathy, dysmorphic features, and susceptibility to malignant hyperthermia (summary by Dowling et al., 2011).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/327082">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_340586"><div><strong>Bailey-Bloch congenital myopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340586</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.">C1850625</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">STAC3 disorder is characterized by congenital myopathy, musculoskeletal involvement of the trunk and extremities, feeding difficulties, and delayed motor milestones. Most affected individuals have weakness with myopathic facies, scoliosis, kyphosis or kyphoscoliosis, and contractures. Other common findings are ptosis, abnormalities of the palate (including cleft palate), and short stature. Risk for malignant hyperthermia susceptibility and restrictive lung disease are increased. Intellect is typically normal. Originally described in individuals from the Lumbee Native American tribe (an admixture of Cheraw Indian, English, and African American ancestry) in the state of North Carolina and reported as Native American myopathy, STAC3 disorder has now been identified in numerous other populations worldwide.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/340586">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_381473"><div><strong>Lethal multiple pterygium syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>381473</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.">C1854678</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Lethal multiple pterygium syndrome has many of the same signs and symptoms as the Escobar type. In addition, affected fetuses may develop a buildup of excess fluid in the body (hydrops fetalis) or a fluid-filled sac typically found on the back of the neck (cystic hygroma). Individuals with this type have severe arthrogryposis. Lethal multiple pterygium syndrome is associated with abnormalities such as underdevelopment (hypoplasia) of the heart, lung, or brain; twisting of the intestines (intestinal malrotation); kidney abnormalities; an opening in the roof of the mouth (a cleft palate); and an unusually small head size (microcephaly). Affected individuals may also develop a hole in the muscle that separates the abdomen from the chest cavity (the diaphragm), a condition called a congenital diaphragmatic hernia. Lethal multiple pterygium syndrome is typically fatal in the second or third trimester of pregnancy.\n\nIn people with multiple pterygium syndrome, Escobar type, the webbing typically affects the skin of the neck, fingers, forearms, inner thighs, and backs of the knee. People with this type may also have arthrogryposis. A side-to-side curvature of the spine (scoliosis) is sometimes seen. Affected individuals may also have respiratory distress at birth due to underdeveloped lungs (lung hypoplasia). People with multiple pterygium syndrome, Escobar type usually have distinctive facial features including droopy eyelids (ptosis), outside corners of the eyes that point downward (downslanting palpebral fissures), skin folds covering the inner corner of the eyes (epicanthal folds), a small jaw, and low-set ears. Males with this condition can have undescended testes (cryptorchidism). This condition does not worsen after birth, and affected individuals typically do not have muscle weakness later in life.\n\nThe two forms of multiple pterygium syndrome are differentiated by the severity of their symptoms. Multiple pterygium syndrome, Escobar type (sometimes referred to as Escobar syndrome) is the milder of the two types. Lethal multiple pterygium syndrome is fatal before birth or very soon after birth.\n\nMultiple pterygium syndrome is a condition that is evident before birth with webbing of the skin (pterygium) at the joints and a lack of muscle movement (akinesia) before birth. Akinesia frequently results in muscle weakness and joint deformities called contractures that restrict the movement of joints (arthrogryposis). As a result, multiple pterygium syndrome can lead to further problems with movement such as arms and legs that cannot fully extend.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/381473">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_347490"><div><strong>Multiple pterygium-malignant hyperthermia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347490</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.">C1857576</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">An extremely rare arthrogryposis syndrome, described in only two pairs of siblings from two unrelated families to date, and characterized by the association of arthrogryposis, congenital torticollis, dysmorphic facial features (i.e. asymmetry of the face, myopathic facial movements, ptosis, posteriorly rotated ears, cleft palate), progressive scoliosis and episodes of malignant hyperthermia. There have been no further descriptions in the literature since 1988.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/347490">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_356151"><div><strong>Malignant hyperthermia, susceptibility to, 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356151</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.">C1866077</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Malignant hyperthermia susceptibility (MHS) is a pharmacogenetic disorder of skeletal muscle calcium regulation associated with uncontrolled skeletal muscle hypermetabolism. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine). The triggering substances cause uncontrolled release of calcium from the sarcoplasmic reticulum and may promote entry of extracellular calcium into the myoplasm, causing contracture of skeletal muscles, glycogenolysis, and increased cellular metabolism, resulting in production of heat and excess lactate. Affected individuals experience acidosis, hypercapnia, tachycardia, hyperthermia, muscle rigidity, compartment syndrome, rhabdomyolysis with subsequent increase in serum creatine kinase (CK) concentration, hyperkalemia with a risk for cardiac arrhythmia or even cardiac arrest, and myoglobinuria with a risk for renal failure. In nearly all cases, the first manifestations of MH (tachycardia and tachypnea) occur in the operating room; however, MH may also occur in the early postoperative period. There is mounting evidence that some individuals with MHS will also develop MH with exercise and/or on exposure to hot environments. Without proper and prompt treatment with dantrolene sodium, mortality is extremely high.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/356151">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_414536"><div><strong>PGM1-congenital disorder of glycosylation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>414536</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.">C2752015</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital disorder of glycosylation type It (CDG1T) is an autosomal recessive disorder characterized by a wide range of clinical manifestations and severity. The most common features include cleft lip and bifid uvula, apparent at birth, followed by hepatopathy, intermittent hypoglycemia, short stature, and exercise intolerance, often accompanied by increased serum creatine kinase. Less common features include rhabdomyolysis, dilated cardiomyopathy, and hypogonadotropic hypogonadism (summary by Tegtmeyer et al., 2014). For a discussion of the classification of CDGs, see CDG1A (212065).</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/414536">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_443948"><div><strong>Malignant hyperthermia, susceptibility to, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>443948</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.">C2930980</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Malignant hyperthermia susceptibility (MHS) is a pharmacogenetic disorder of skeletal muscle calcium regulation associated with uncontrolled skeletal muscle hypermetabolism. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine). The triggering substances cause uncontrolled release of calcium from the sarcoplasmic reticulum and may promote entry of extracellular calcium into the myoplasm, causing contracture of skeletal muscles, glycogenolysis, and increased cellular metabolism, resulting in production of heat and excess lactate. Affected individuals experience acidosis, hypercapnia, tachycardia, hyperthermia, muscle rigidity, compartment syndrome, rhabdomyolysis with subsequent increase in serum creatine kinase (CK) concentration, hyperkalemia with a risk for cardiac arrhythmia or even cardiac arrest, and myoglobinuria with a risk for renal failure. In nearly all cases, the first manifestations of MH (tachycardia and tachypnea) occur in the operating room; however, MH may also occur in the early postoperative period. There is mounting evidence that some individuals with MHS will also develop MH with exercise and/or on exposure to hot environments. Without proper and prompt treatment with dantrolene sodium, mortality is extremely high.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/443948">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_419301"><div><strong>Malignant hyperthermia, susceptibility to, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419301</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.">C2930981</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Malignant hyperthermia susceptibility (MHS) is a pharmacogenetic disorder of skeletal muscle calcium regulation associated with uncontrolled skeletal muscle hypermetabolism. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine). The triggering substances cause uncontrolled release of calcium from the sarcoplasmic reticulum and may promote entry of extracellular calcium into the myoplasm, causing contracture of skeletal muscles, glycogenolysis, and increased cellular metabolism, resulting in production of heat and excess lactate. Affected individuals experience acidosis, hypercapnia, tachycardia, hyperthermia, muscle rigidity, compartment syndrome, rhabdomyolysis with subsequent increase in serum creatine kinase (CK) concentration, hyperkalemia with a risk for cardiac arrhythmia or even cardiac arrest, and myoglobinuria with a risk for renal failure. In nearly all cases, the first manifestations of MH (tachycardia and tachypnea) occur in the operating room; however, MH may also occur in the early postoperative period. There is mounting evidence that some individuals with MHS will also develop MH with exercise and/or on exposure to hot environments. Without proper and prompt treatment with dantrolene sodium, mortality is extremely high.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/419301">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_418956"><div><strong>Malignant hyperthermia, susceptibility to, 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>418956</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.">C2930982</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Malignant hyperthermia susceptibility (MHS) is a pharmacogenetic disorder of skeletal muscle calcium regulation associated with uncontrolled skeletal muscle hypermetabolism. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine). The triggering substances cause uncontrolled release of calcium from the sarcoplasmic reticulum and may promote entry of extracellular calcium into the myoplasm, causing contracture of skeletal muscles, glycogenolysis, and increased cellular metabolism, resulting in production of heat and excess lactate. Affected individuals experience acidosis, hypercapnia, tachycardia, hyperthermia, muscle rigidity, compartment syndrome, rhabdomyolysis with subsequent increase in serum creatine kinase (CK) concentration, hyperkalemia with a risk for cardiac arrhythmia or even cardiac arrest, and myoglobinuria with a risk for renal failure. In nearly all cases, the first manifestations of MH (tachycardia and tachypnea) occur in the operating room; however, MH may also occur in the early postoperative period. There is mounting evidence that some individuals with MHS will also develop MH with exercise and/or on exposure to hot environments. Without proper and prompt treatment with dantrolene sodium, mortality is extremely high.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/418956">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1647990"><div><strong>Schwartz-Jampel syndrome type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1647990</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.">C4551479</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Schwartz-Jampel syndrome type 1 (SJS1) is a rare autosomal recessive disorder characterized by muscle stiffness (myotonia) and chondrodysplasia. Affected individuals usually present in childhood with permanent muscle stiffness or bone deformities. Common clinical features include mask-like facies (narrow palpebral fissures, blepharospasm, and pursed lips); permanent muscle stiffness with continuous skeletal muscle activity recorded on electromyography; dwarfism; pectus carinatum; kyphoscoliosis; bowing of long bones; and epiphyseal, metaphyseal, and hip dysplasia. The disorder is slowly progressive but does not appear to alter life span (summary by Stum et al., 2006).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1647990">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1748867"><div><strong>Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1748867</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.">C5399977</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mitochondrial complex IV deficiency nuclear type 2 (MC4DN2) is an autosomal recessive multisystem metabolic disorder characterized by the onset of symptoms at birth or in the first weeks or months of life. Affected individuals have severe hypotonia, often associated with feeding difficulties and respiratory insufficiency necessitating tube feeding and mechanical ventilation. The vast majority of patients develop hypertrophic cardiomyopathy in the first days or weeks of life, which usually leads to death in infancy or early childhood. Patients also show neurologic abnormalities, including developmental delay, nystagmus, fasciculations, dystonia, EEG changes, and brain imaging abnormalities compatible with a diagnosis of Leigh syndrome (see 256000). There may also be evidence of systemic involvement with hepatomegaly and myopathy, although neurogenic muscle atrophy is more common and may resemble spinal muscular atrophy type I (SMA1; 253300). Serum lactate is increased, and laboratory studies show decreased mitochondrial complex IV protein and activity levels in various tissues, including heart and skeletal muscle. Most patients die in infancy of cardiorespiratory failure (summary by Papadopoulou et al., 1999). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1748867">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1841337"><div><strong>Central core myopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841337</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.">C5830701</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital myopathy-1A (CMYO1A) with susceptibility to malignant hyperthermia is an autosomal dominant disorder of skeletal muscle characterized by muscle weakness primarily affecting the proximal muscles of the lower limbs beginning in infancy or early childhood, although later onset of symptoms has been reported. There is significant phenotypic variability, even within families, and the wide clinical diversity most likely depends on the severity of the RYR1 mutation. The disorder is static or slowly progressive; affected individuals typically show delayed motor development and usually achieve independent walking, although many have difficulty running or climbing stairs. Additional features often include mild facial weakness, joint laxity, shoulder girdle weakness, and skeletal manifestations, such as dislocation of the hips, foot deformities, scoliosis, and Achilles tendon contractures. Some patients present with orthopedic deformities. Serum creatine kinase is usually not elevated. Respiratory involvement is rare and there is no central nervous system or cardiac involvement. Patients with dominant mutations in the RYR1 gene are at risk for malignant hyperthermia and both disorders may segregate in the same family. Historically, patients with congenital myopathy due to RYR1 mutations were diagnosed based on the finding of pathologic central cores (central core disease; CCD) on muscle biopsy, which represent areas that lack oxidative enzymes and mitochondrial activity in type 1 muscle fibers. However, additional pathologic findings may also be observed, including cores and rods, central nuclei, fiber type disproportion, multiminicores, and uniform type 1 fibers. These histopathologic features are not always specific to RYR1 myopathy and often change over time (Quinlivan et al., 2003; Jungbluth et al., 2007; Klein et al., 2012; Ogasawara and Nishino, 2021). Some patients with RYR1 mutations have pathologic findings on muscle biopsy, but are clinically asymptomatic (Shuaib et al., 1987; Quane et al., 1993). Rare patients with a more severe phenotype have been found to carry a heterozygous mutation in the RYR1 gene inherited from an unaffected parent. However, in these cases, there is a possibility of recessive inheritance (CMYO1B; 255320) with either a missed second RYR1 mutation in trans or a genomic rearrangement on the other allele that is undetectable on routine genomic sequencing, since the RYR1 gene is very large and genetic analysis may be difficult (Klein et al., 2012). Genetic Heterogeneity of Congenital Myopathy See also CMYO1B (255320), caused by mutation in the RYR1 gene (180901) on chromosome 19q13; CMYO2A (161800), CMYO2B (620265), and CMYO2C (620278), caused by mutation in the ACTA1 gene (102610) on chromosome 1q42; CMYO3 (602771), caused by mutation in the SELENON gene (606210) on chromosome 1p36; CMYO4A (255310) and CMYO4B (609284), caused by mutation in the TPM3 gene (191030) on chromosome 1q21; CMYO5 (611705), caused by mutation in the TTN gene (188840) on chromosome 2q31; CMYO6 (605637), caused by mutation in the MYH2 gene (160740) on chromosome 17p13; CMYO7A (608358) and CMYO7B (255160), caused by mutation in the MYH7 gene (160760) on chromosome 14q11; CMYO8 (618654), caused by mutation in the ACTN2 gene (102573) on chromosome 1q43; CMYO9A (618822) and CMYO9B (618823), caused by mutation in the FXR1 gene (600819) on chromosome 3q28; CMYO10A (614399) and CMYO10B (620249), caused by mutation in the MEGF10 gene (612453) on chromosome 5q23; CMYO11 (619967), caused by mutation in the HACD1 gene (610467) on chromosome 10p12; CMYO12 (612540), caused by mutation in the CNTN1 gene (600016) on chromosome 12q12; CMYO13 (255995), caused by mutation in the STAC3 gene (615521) on chromosome 12q13; CMYO14 (618414), caused by mutation in the MYL1 gene (160780) on chromosome 2q34; CMYO15 (620161), caused by mutation in the TNNC2 gene (191039) on chromosome 20q13; CMYO16 (618524), caused by mutation in the MYBPC1 gene (160794) on chromosome 12q23; CMYO17 (618975), caused by mutation in the MYOD1 gene (159970) on chromosome 11p15; CMYO18 (620246), caused by mutation in the CACNA1S gene (114208) on chromosome 1q32; CMYO19 (618578), caused by mutation in the PAX7 gene (167410) on chromosome 1p36; CMYO20 (620310), caused by mutation in the RYR3 gene (180903) on chromosome 15q13; CMYO21 (620326), caused by mutation in the DNAJB4 gene (611327) on chromosome 1p31; CMYO22A (620351) and CMYO22B (620369), both caused by mutation in the SCN4A gene (603967) on chromosome 17q23; CMYO23 (609285), caused by mutation in the TPM2 gene (190990) on chromosome 9p13; and CMYO24 (617336), caused by mutation in the MYPN gene (608517) on chromosome 10q21.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1841337">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340586" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bailey-Bloch congenital myopathy</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_371441" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brody myopathy</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1748867" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841337" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Central core myopathy</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120516" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Freeman-Sheldon syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (17)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_327082" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">King Denborough syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_381473" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lethal multiple pterygium syndrome</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_443948" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Malignant hyperthermia, susceptibility to, 1</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_419301" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Malignant hyperthermia, susceptibility to, 2</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_418956" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Malignant hyperthermia, susceptibility to, 3</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_324944" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Malignant hyperthermia, susceptibility to, 4</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_356151" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Malignant hyperthermia, susceptibility to, 5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347490" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple pterygium-malignant hyperthermia syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_414536" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">PGM1-congenital disorder of glycosylation</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1647990" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Schwartz-Jampel syndrome type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_52548" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">SUDDEN INFANT DEATH SYNDROME</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_374225" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked lethal multiple pterygium syndrome</a></div></span></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/33915557">Pathophysiology and Treatment of Malignant Hyperthermia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gregory H,
|
||
Weant KA</span><br />
|
||
<span class="medgenPMjournal">Adv Emerg Nurs J</span>
|
||
2021 Apr-Jun 01;43(2):102-110.
|
||
doi: 10.1097/TME.0000000000000344.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33915557" target="_blank">33915557</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33399225">Malignant hyperthermia 2020: Guideline from the Association of Anaesthetists.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hopkins PM,
|
||
Girard T,
|
||
Dalay S,
|
||
Jenkins B,
|
||
Thacker A,
|
||
Patteril M,
|
||
McGrady E</span><br />
|
||
<span class="medgenPMjournal">Anaesthesia</span>
|
||
2021 May;76(5):655-664.
|
||
Epub 2021 Jan 5
|
||
doi: 10.1111/anae.15317.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33399225" target="_blank">33399225</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31545156">Controversies in exertional heat stroke diagnosis, prevention, and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Laitano O,
|
||
Leon LR,
|
||
Roberts WO,
|
||
Sawka MN</span><br />
|
||
<span class="medgenPMjournal">J Appl Physiol (1985)</span>
|
||
2019 Nov 1;127(5):1338-1348.
|
||
Epub 2019 Sep 23
|
||
doi: 10.1152/japplphysiol.00452.2019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31545156" target="_blank">31545156</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22malignant%20hyperthermia%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 (116)</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/33915557">Pathophysiology and Treatment of Malignant Hyperthermia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gregory H,
|
||
Weant KA</span><br />
|
||
<span class="medgenPMjournal">Adv Emerg Nurs J</span>
|
||
2021 Apr-Jun 01;43(2):102-110.
|
||
doi: 10.1097/TME.0000000000000344.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33915557" target="_blank">33915557</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33399225">Malignant hyperthermia 2020: Guideline from the Association of Anaesthetists.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hopkins PM,
|
||
Girard T,
|
||
Dalay S,
|
||
Jenkins B,
|
||
Thacker A,
|
||
Patteril M,
|
||
McGrady E</span><br />
|
||
<span class="medgenPMjournal">Anaesthesia</span>
|
||
2021 May;76(5):655-664.
|
||
Epub 2021 Jan 5
|
||
doi: 10.1111/anae.15317.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33399225" target="_blank">33399225</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30236257">Genetic epidemiology of malignant hyperthermia in the UK.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miller DM,
|
||
Daly C,
|
||
Aboelsaod EM,
|
||
Gardner L,
|
||
Hobson SJ,
|
||
Riasat K,
|
||
Shepherd S,
|
||
Robinson RL,
|
||
Bilmen JG,
|
||
Gupta PK,
|
||
Shaw MA,
|
||
Hopkins PM</span><br />
|
||
<span class="medgenPMjournal">Br J Anaesth</span>
|
||
2018 Oct;121(4):944-952.
|
||
Epub 2018 Aug 17
|
||
doi: 10.1016/j.bja.2018.06.028.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30236257" target="_blank">30236257</a><a href="/pmc/articles/PMC6208294" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25960145">RYR1-related myopathies: a wide spectrum of phenotypes throughout life.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Snoeck M,
|
||
van Engelen BG,
|
||
Küsters B,
|
||
Lammens M,
|
||
Meijer R,
|
||
Molenaar JP,
|
||
Raaphorst J,
|
||
Verschuuren-Bemelmans CC,
|
||
Straathof CS,
|
||
Sie LT,
|
||
de Coo IF,
|
||
van der Pol WL,
|
||
de Visser M,
|
||
Scheffer H,
|
||
Treves S,
|
||
Jungbluth H,
|
||
Voermans NC,
|
||
Kamsteeg EJ</span><br />
|
||
<span class="medgenPMjournal">Eur J Neurol</span>
|
||
2015 Jul;22(7):1094-112.
|
||
Epub 2015 May 11
|
||
doi: 10.1111/ene.12713.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25960145" target="_blank">25960145</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3932397">Malignant hyperthermia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rosenberg H</span><br />
|
||
<span class="medgenPMjournal">Hosp Pract (Off Ed)</span>
|
||
1985 Mar 15;20(3):139, 144-5, 148 passim.
|
||
doi: 10.1080/21548331.1985.11703021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3932397" target="_blank">3932397</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Malignant%20hyperthermia%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 (678)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32857404">Malignant Hyperthermia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spruce L</span><br />
|
||
<span class="medgenPMjournal">AORN J</span>
|
||
2020 Sep;112(3):281-290.
|
||
doi: 10.1002/aorn.13167.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32857404" target="_blank">32857404</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32008650">Malignant Hyperthermia Update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ellinas H,
|
||
Albrecht MA</span><br />
|
||
<span class="medgenPMjournal">Anesthesiol Clin</span>
|
||
2020 Mar;38(1):165-181.
|
||
doi: 10.1016/j.anclin.2019.10.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32008650" target="_blank">32008650</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26238698">Malignant hyperthermia: a review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rosenberg H,
|
||
Pollock N,
|
||
Schiemann A,
|
||
Bulger T,
|
||
Stowell K</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2015 Aug 4;10:93.
|
||
doi: 10.1186/s13023-015-0310-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26238698" target="_blank">26238698</a><a href="/pmc/articles/PMC4524368" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22851008">Malignant hyperthermia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bandschapp O,
|
||
Girard T</span><br />
|
||
<span class="medgenPMjournal">Swiss Med Wkly</span>
|
||
2012;142:w13652.
|
||
Epub 2012 Jul 31
|
||
doi: 10.4414/smw.2012.13652.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22851008" target="_blank">22851008</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3522838">Malignant hyperthermia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sessler DI</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
1986 Jul;109(1):9-14.
|
||
doi: 10.1016/s0022-3476(86)80563-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3522838" target="_blank">3522838</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Malignant%20hyperthermia%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 (1211)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33915557">Pathophysiology and Treatment of Malignant Hyperthermia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gregory H,
|
||
Weant KA</span><br />
|
||
<span class="medgenPMjournal">Adv Emerg Nurs J</span>
|
||
2021 Apr-Jun 01;43(2):102-110.
|
||
doi: 10.1097/TME.0000000000000344.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33915557" target="_blank">33915557</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33399225">Malignant hyperthermia 2020: Guideline from the Association of Anaesthetists.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hopkins PM,
|
||
Girard T,
|
||
Dalay S,
|
||
Jenkins B,
|
||
Thacker A,
|
||
Patteril M,
|
||
McGrady E</span><br />
|
||
<span class="medgenPMjournal">Anaesthesia</span>
|
||
2021 May;76(5):655-664.
|
||
Epub 2021 Jan 5
|
||
doi: 10.1111/anae.15317.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33399225" target="_blank">33399225</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26775126">Perioperative thermoregulation and heat balance.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sessler DI</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2016 Jun 25;387(10038):2655-2664.
|
||
Epub 2016 Jan 8
|
||
doi: 10.1016/S0140-6736(15)00981-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26775126" target="_blank">26775126</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22851008">Malignant hyperthermia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bandschapp O,
|
||
Girard T</span><br />
|
||
<span class="medgenPMjournal">Swiss Med Wkly</span>
|
||
2012;142:w13652.
|
||
Epub 2012 Jul 31
|
||
doi: 10.4414/smw.2012.13652.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22851008" target="_blank">22851008</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3522838">Malignant hyperthermia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sessler DI</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
1986 Jul;109(1):9-14.
|
||
doi: 10.1016/s0022-3476(86)80563-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3522838" target="_blank">3522838</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Malignant%20hyperthermia%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 (1127)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31545156">Controversies in exertional heat stroke diagnosis, prevention, and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Laitano O,
|
||
Leon LR,
|
||
Roberts WO,
|
||
Sawka MN</span><br />
|
||
<span class="medgenPMjournal">J Appl Physiol (1985)</span>
|
||
2019 Nov 1;127(5):1338-1348.
|
||
Epub 2019 Sep 23
|
||
doi: 10.1152/japplphysiol.00452.2019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31545156" target="_blank">31545156</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29313907">Adverse drug reactions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patton K,
|
||
Borshoff DC</span><br />
|
||
<span class="medgenPMjournal">Anaesthesia</span>
|
||
2018 Jan;73 Suppl 1:76-84.
|
||
doi: 10.1111/anae.14143.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29313907" target="_blank">29313907</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28526149">Pharmacogenomics in Anesthesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Saba R,
|
||
Kaye AD,
|
||
Urman RD</span><br />
|
||
<span class="medgenPMjournal">Anesthesiol Clin</span>
|
||
2017 Jun;35(2):285-294.
|
||
doi: 10.1016/j.anclin.2017.01.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28526149" target="_blank">28526149</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20660880">Fever--an update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Becker JH,
|
||
Wu SC</span><br />
|
||
<span class="medgenPMjournal">J Am Podiatr Med Assoc</span>
|
||
2010 Jul-Aug;100(4):281-90.
|
||
doi: 10.7547/1000281.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20660880" target="_blank">20660880</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4581791">Malignant hyperpyrexia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Relton JE,
|
||
Britt BA,
|
||
Steward DJ</span><br />
|
||
<span class="medgenPMjournal">Br J Anaesth</span>
|
||
1973 Mar;45(3):269-75.
|
||
doi: 10.1093/bja/45.3.269.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4581791" target="_blank">4581791</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Malignant%20hyperthermia%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 (287)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32236737">Intracellular calcium leak as a therapeutic target for RYR1-related myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kushnir A,
|
||
Todd JJ,
|
||
Witherspoon JW,
|
||
Yuan Q,
|
||
Reiken S,
|
||
Lin H,
|
||
Munce RH,
|
||
Wajsberg B,
|
||
Melville Z,
|
||
Clarke OB,
|
||
Wedderburn-Pugh K,
|
||
Wronska A,
|
||
Razaqyar MS,
|
||
Chrismer IC,
|
||
Shelton MO,
|
||
Mankodi A,
|
||
Grunseich C,
|
||
Tarnopolsky MA,
|
||
Tanji K,
|
||
Hirano M,
|
||
Riazi S,
|
||
Kraeva N,
|
||
Voermans NC,
|
||
Gruber A,
|
||
Allen C,
|
||
Meilleur KG,
|
||
Marks AR</span><br />
|
||
<span class="medgenPMjournal">Acta Neuropathol</span>
|
||
2020 Jun;139(6):1089-1104.
|
||
Epub 2020 Mar 31
|
||
doi: 10.1007/s00401-020-02150-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32236737" target="_blank">32236737</a><a href="/pmc/articles/PMC7788518" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31545156">Controversies in exertional heat stroke diagnosis, prevention, and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Laitano O,
|
||
Leon LR,
|
||
Roberts WO,
|
||
Sawka MN</span><br />
|
||
<span class="medgenPMjournal">J Appl Physiol (1985)</span>
|
||
2019 Nov 1;127(5):1338-1348.
|
||
Epub 2019 Sep 23
|
||
doi: 10.1152/japplphysiol.00452.2019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31545156" target="_blank">31545156</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30905562">Patient Safety and Anesthesia Considerations for Office-Based Otolaryngology Procedures.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schmalbach CE</span><br />
|
||
<span class="medgenPMjournal">Otolaryngol Clin North Am</span>
|
||
2019 Jun;52(3):379-390.
|
||
Epub 2019 Mar 22
|
||
doi: 10.1016/j.otc.2019.02.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30905562" target="_blank">30905562</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28526149">Pharmacogenomics in Anesthesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Saba R,
|
||
Kaye AD,
|
||
Urman RD</span><br />
|
||
<span class="medgenPMjournal">Anesthesiol Clin</span>
|
||
2017 Jun;35(2):285-294.
|
||
doi: 10.1016/j.anclin.2017.01.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28526149" target="_blank">28526149</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23919265">Genotype-phenotype correlations in recessive RYR1-related myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amburgey K,
|
||
Bailey A,
|
||
Hwang JH,
|
||
Tarnopolsky MA,
|
||
Bonnemann CG,
|
||
Medne L,
|
||
Mathews KD,
|
||
Collins J,
|
||
Daube JR,
|
||
Wellman GP,
|
||
Callaghan B,
|
||
Clarke NF,
|
||
Dowling JJ</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2013 Aug 6;8:117.
|
||
doi: 10.1186/1750-1172-8-117.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23919265" target="_blank">23919265</a><a href="/pmc/articles/PMC3751094" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Malignant%20hyperthermia%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 (353)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/33250373">HyperCKemia and rhabdomyolysis in the neuroleptic malignant and serotonin syndromes: A literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kruijt N,
|
||
van den Bersselaar LR,
|
||
Wijma J,
|
||
Verbeeck W,
|
||
Coenen MJH,
|
||
Neville J,
|
||
Snoeck M,
|
||
Kamsteeg EJ,
|
||
Jungbluth H,
|
||
Kramers C,
|
||
Voermans NC</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2020 Dec;30(12):949-958.
|
||
Epub 2020 Oct 31
|
||
doi: 10.1016/j.nmd.2020.10.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33250373" target="_blank">33250373</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31743252">Significance of Asymptomatic Hyper Creatine-Kinase Emia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Finsterer J,
|
||
Scorza FA,
|
||
Scorza CA</span><br />
|
||
<span class="medgenPMjournal">J Clin Neuromuscul Dis</span>
|
||
2019 Dec;21(2):90-102.
|
||
doi: 10.1097/CND.0000000000000269.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31743252" target="_blank">31743252</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30550426">Succinylcholine Use and Dantrolene Availability for Malignant Hyperthermia Treatment: Database Analyses and Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Larach MG,
|
||
Klumpner TT,
|
||
Brandom BW,
|
||
Vaughn MT,
|
||
Belani KG,
|
||
Herlich A,
|
||
Kim TW,
|
||
Limoncelli J,
|
||
Riazi S,
|
||
Sivak EL,
|
||
Capacchione J,
|
||
Mashman D,
|
||
Kheterpal S,
|
||
Kooij F,
|
||
Wilczak J,
|
||
Soto R,
|
||
Berris J,
|
||
Price Z,
|
||
Lins S,
|
||
Coles P,
|
||
Harris JM,
|
||
Cummings KC 3rd,
|
||
Berman MF,
|
||
Nanamori M,
|
||
Adelman BT,
|
||
Wedeven C,
|
||
LaGorio J,
|
||
McCormick PJ,
|
||
Tom S,
|
||
Aziz MF,
|
||
Coffman T,
|
||
Ellis TA 2nd,
|
||
Molina S,
|
||
Peterson W,
|
||
Mackey SC,
|
||
van Klei WA,
|
||
Ginde AA,
|
||
Biggs DA,
|
||
Neuman MD,
|
||
Craft RM,
|
||
Pace NL,
|
||
Paganelli WC,
|
||
Durieux ME,
|
||
Nair BJ,
|
||
Wanderer JP,
|
||
Miller SA,
|
||
Helsten DL,
|
||
Turnbull ZA,
|
||
Schonberger RB;
|
||
Multicenter Perioperative Outcomes Group</span><br />
|
||
<span class="medgenPMjournal">Anesthesiology</span>
|
||
2019 Jan;130(1):41-54.
|
||
doi: 10.1097/ALN.0000000000002490.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30550426" target="_blank">30550426</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28326467">Malignant hyperthermia susceptibility in patients with exertional rhabdomyolysis: a retrospective cohort study and updated systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kraeva N,
|
||
Sapa A,
|
||
Dowling JJ,
|
||
Riazi S</span><br />
|
||
<span class="medgenPMjournal">Can J Anaesth</span>
|
||
2017 Jul;64(7):736-743.
|
||
Epub 2017 Mar 21
|
||
doi: 10.1007/s12630-017-0865-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28326467" target="_blank">28326467</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22190505">Effect of general anesthesia in patients with cerebral palsy at the turn of the new millennium: a population-based study evaluating perioperative outcome and brief overview of anesthetic implications of this coexisting disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wass CT,
|
||
Warner ME,
|
||
Worrell GA,
|
||
Castagno JA,
|
||
Howe M,
|
||
Kerber KA,
|
||
Palzkill JM,
|
||
Schroeder DR,
|
||
Cascino GD</span><br />
|
||
<span class="medgenPMjournal">J Child Neurol</span>
|
||
2012 Jul;27(7):859-66.
|
||
Epub 2011 Dec 21
|
||
doi: 10.1177/0883073811428378.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22190505" target="_blank">22190505</a><a href="/pmc/articles/PMC3561730" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Malignant%20hyperthermia%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (6)</a></div></div>
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|
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<div class="supplemental col three_col last">
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C5779784%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (1)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C5779784%5bDISCUI%5d" target="_blank">See all (1)</a></total></li>
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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=(%22malignant%20hyperthermia%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><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Malignant%20hyperthermia%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. 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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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d68f6ecde49f3df767c799">Malignant hyperthermia</a>
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<div class="tertiary">MedGen</div>
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