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<meta name="keywords" content="C0410189, benign scapuloperoneal muscular dystrophy with early contractures, disease or syndrome, edmd, emd - emery-dreifuss muscular dystrophy, emery dreifuss muscular dystrophy, emery dreifuss syndrome, emery-dreifuss muscular dystrophy, emery-dreifuss syndrome, emery-dreifuss type muscular dystrophy, humeroperoneal neuromuscular disease, (formerly), muscular dystrophy, emery dreifuss, muscular dystrophy, emery-dreifuss, muscular dystrophy, emery-dreifuss type, muscular dystrophy, tardive, dreifuss-emery type, with contractures, scapuloperoneal syndrome, x-linked (formerly), 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="Emery-Dreifuss muscular dystrophy (EDMD) is characterized by the clinical triad of: joint contractures that begin in early childhood; slowly progressive muscle weakness and wasting initially in a humero-peroneal distribution that later extends to the scapular and pelvic girdle muscles; and cardiac involvement that may manifest as palpitations, presyncope and syncope, poor exercise tolerance, and congestive heart failure along with variable cardiac rhythm disturbances. Age of onset, severity, and progression of muscle and cardiac involvement demonstrate both inter- and intrafamilial variability. Clinical variability ranges from early onset with severe presentation in childhood to late onset with slow progression in adulthood. In general, joint contractures appear during the first two decades, followed by muscle weakness and wasting. Cardiac involvement usually occurs after the second decade and respiratory function may be impaired in some individuals." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=96078
|
||
ConceptID=C0410189
|
||
-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Emery-Dreifuss muscular dystrophy<span class="h1sub">(EDMD)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96078</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C0410189</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>EDMD; Humeroperoneal neuromuscular disease, (formerly); Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures; Scapuloperoneal syndrome, X-linked (formerly)</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Emery-Dreifuss muscular dystrophy (111508004); EMD - Emery-Dreifuss muscular dystrophy (111508004); Benign scapuloperoneal muscular dystrophy with early contractures (111508004)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</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.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="divPopper rprt" id="moi_375779"><div><strong>X-linked recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375779</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.">C1845977</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375779">This record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_375779" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked recessive inheritance</a><span> (Orphanet)</span></div></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/79188">TMEM43</a>, <a target="_blank" href="/gene/23345">SYNE1</a>, <a target="_blank" href="/gene/23224">SYNE2</a>, <a target="_blank" href="/gene/4000">LMNA</a>, <a target="_blank" href="/gene/2273">FHL1</a>, <a target="_blank" href="/gene/2010">EMD</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0016830" target="_blank">MONDO:0016830</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS310300" target="_blank">PS310300</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=261">ORPHA261</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_101">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1436" target="_blank">Emery-Dreifuss Muscular Dystrophy</a></div><div>Emery-Dreifuss muscular dystrophy (EDMD) is characterized by the clinical triad of: joint contractures that begin in early childhood; slowly progressive muscle weakness and wasting initially in a humero-peroneal distribution that later extends to the scapular and pelvic girdle muscles; and cardiac involvement that may manifest as palpitations, presyncope and syncope, poor exercise tolerance, and congestive heart failure along with variable cardiac rhythm disturbances. Age of onset, severity, and progression of muscle and cardiac involvement demonstrate both inter- and intrafamilial variability. Clinical variability ranges from early onset with severe presentation in childhood to late onset with slow progression in adulthood. In general, joint contractures appear during the first two decades, followed by muscle weakness and wasting. Cardiac involvement usually occurs after the second decade and respiratory function may be impaired in some individuals. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1436#edmd.Summary" target="NBK1436">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1436#edmd.Diagnosis" target="NBK1436">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1436#edmd.Clinical_Characteristics" target="NBK1436">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1436#edmd.Genetically_Related_Allelic_Disorde" target="NBK1436">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1436#edmd.Differential_Diagnosis" target="NBK1436">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1436#edmd.Management" target="NBK1436">Management</a> | <a class="medgenPMinfo" href="/books/NBK1436#edmd.Genetic_Counseling" target="NBK1436">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1436#edmd.Resources" target="NBK1436">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1436#edmd.Molecular_Genetics" target="NBK1436">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1436#edmd.Chapter_Notes" target="NBK1436">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1436#edmd.References" target="NBK1436">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Gisèle Bonne | France Leturcq | Rabah Ben Yaou <a href="/books/NBK1436" target="NBK1436" title="NCBI Bookshelf: Emery-Dreifuss Muscular Dystrophy">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Emery-Dreifuss muscular dystrophy is a condition that primarily affects muscles used for movement (skeletal muscles) and the heart (cardiac muscle). Among the earliest features of this disorder are joint deformities called contractures. Contractures restrict the movement of certain joints, most often the elbows, ankles, and neck, and usually become noticeable in early childhood. Most affected individuals also experience muscle weakness and wasting that worsen slowly over time, beginning in muscles of the upper arms and lower legs and later also affecting muscles in the shoulders and hips.<br /><br />Almost all people with Emery-Dreifuss muscular dystrophy develop heart problems by adulthood. In many cases, these heart problems are abnormalities of the electrical signals that control the heartbeat (cardiac conduction defects) and abnormal heart rhythms (arrhythmias). If untreated, these abnormalities can lead to a sensation of fluttering or pounding in the chest (palpitations), an unusually slow heartbeat (bradycardia), fainting (syncope), heart failure, and an increased risk of sudden death.<br /><br />Researchers have identified several types of Emery-Dreifuss muscular dystrophy that are distinguished by their pattern of inheritance: X-linked, autosomal dominant, and autosomal recessive. The types usually have similar signs and symptoms, although a small percentage of people with the autosomal dominant form experience heart problems without any weakness or wasting of skeletal muscles. <a target="_blank" href="https://medlineplus.gov/genetics/condition/emery-dreifuss-muscular-dystrophy">https://medlineplus.gov/genetics/condition/emery-dreifuss-muscular-dystrophy</a></div></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>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0410189[DISCUI]&test_type=Clinical" ref="ncbi_uid=96078">C</a></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/NBK1436/" ref="ncbi_uid=96078">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=96078" ref="ncbi_uid=96078">V</a></span></span><span class="TLline">Emery-Dreifuss muscular dystrophy</span><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/976017" ref="tree=GTR&ncbi_uid=976017&link_uid=976017" title="View MedGen record for 'Autosomal dominant Emery-Dreifuss muscular dystrophy'">Autosomal dominant Emery-Dreifuss muscular dystrophy</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=C0410190[DISCUI]&test_type=Clinical" ref="ncbi_uid=98048">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=98048" target="_blank" href="/omim/150330">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1436/" ref="ncbi_uid=98048">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=98048" ref="ncbi_uid=98048">V</a></span></span><span class="TLline"><a href="/medgen/98048" ref="tree=GTR&ncbi_uid=98048&link_uid=98048" title="View MedGen record for 'Emery-Dreifuss muscular dystrophy 2, autosomal dominant'">Emery-Dreifuss muscular dystrophy 2, autosomal dominant</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=C2751807[DISCUI]&test_type=Clinical" ref="ncbi_uid=414476">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=414476" target="_blank" href="/omim/608441">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=414476" ref="ncbi_uid=414476">V</a></span></span><span class="TLline"><a href="/medgen/414476" ref="tree=GTR&ncbi_uid=414476&link_uid=414476" title="View MedGen record for 'Emery-Dreifuss muscular dystrophy 4, autosomal dominant'">Emery-Dreifuss muscular dystrophy 4, autosomal dominant</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=C2751805[DISCUI]&test_type=Clinical" ref="ncbi_uid=414111">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=414111" target="_blank" href="/omim/612999">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=414111" ref="ncbi_uid=414111">V</a></span></span><span class="TLline"><a href="/medgen/414111" ref="tree=GTR&ncbi_uid=414111&link_uid=414111" title="View MedGen record for 'Emery-Dreifuss muscular dystrophy 5, autosomal dominant'">Emery-Dreifuss muscular dystrophy 5, autosomal dominant</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=C3553060[DISCUI]&test_type=Clinical" ref="ncbi_uid=765974">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=765974" target="_blank" href="/omim/612048">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=765974" ref="ncbi_uid=765974">V</a></span></span><span class="TLline"><a href="/medgen/765974" ref="tree=GTR&ncbi_uid=765974&link_uid=765974" title="View MedGen record for 'Emery-Dreifuss muscular dystrophy 7, autosomal dominant'">Emery-Dreifuss muscular dystrophy 7, autosomal dominant</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=C2750035[DISCUI]&test_type=Clinical" ref="ncbi_uid=413212">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=413212" target="_blank" href="/omim/150330">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=413212" ref="ncbi_uid=413212">V</a></span></span><span class="TLline"><a href="/medgen/413212" ref="tree=GTR&ncbi_uid=413212&link_uid=413212" title="View MedGen record for 'Emery-Dreifuss muscular dystrophy 3, autosomal recessive'">Emery-Dreifuss muscular dystrophy 3, autosomal recessive</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=C0751337[DISCUI]&test_type=Clinical" ref="ncbi_uid=148284">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=148284" target="_blank" href="/omim/300384">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1436/" ref="ncbi_uid=148284">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=148284" ref="ncbi_uid=148284">V</a></span></span><span class="TLline"><a href="/medgen/148284" ref="tree=GTR&ncbi_uid=148284&link_uid=148284" title="View MedGen record for 'X-linked Emery-Dreifuss muscular dystrophy'">X-linked Emery-Dreifuss muscular dystrophy</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=C2749106[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=440709">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=440709" target="_blank" href="/omim/300163">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=440709" ref="ncbi_uid=440709">V</a></span></span><span class="TLline"><a href="/medgen/440709" ref="tree=GTR&ncbi_uid=440709&link_uid=440709" title="View MedGen record for 'Emery-Dreifuss muscular dystrophy 6'">Emery-Dreifuss muscular dystrophy 6</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=C5243475[DISCUI]&test_type=Clinical" ref="ncbi_uid=1720295">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1720295" target="_blank" href="/omim/310300">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1436/" ref="ncbi_uid=1720295">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1720295" ref="ncbi_uid=1720295">V</a></span></span><span class="TLline"><a href="/medgen/1720295" ref="tree=GTR&ncbi_uid=1720295&link_uid=1720295" title="View MedGen record for 'Emery-Dreifuss muscular dystrophy 1, X-linked'">Emery-Dreifuss muscular dystrophy 1, X-linked</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=C2678055[DISCUI]&test_type=Clinical" ref="ncbi_uid=395525">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=395525" target="_blank" href="/omim/300163">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1436/" ref="ncbi_uid=395525">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=395525" ref="ncbi_uid=395525">V</a></span></span><span class="TLline"><a href="/medgen/395525" ref="tree=GTR&ncbi_uid=395525&link_uid=395525" title="View MedGen record for 'X-linked myopathy with postural muscle atrophy'">X-linked myopathy with postural muscle atrophy</a></span></li></ul></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/1763488" ref="tree=MeSH" title="MedGen record for Abnormality of the musculoskeletal system">Abnormality of the musculoskeletal system</a></span><ul><li><span class="TLline"><a href="/medgen/867380" ref="tree=MeSH" title="MedGen record for Abnormality of the musculature">Abnormality of the musculature</a></span><ul><li><span class="TLline"><a href="/medgen/868776" ref="tree=MeSH" title="MedGen record for Abnormal skeletal muscle morphology">Abnormal skeletal muscle morphology</a></span><ul><li><span class="TLline"><a href="/medgen/44527" ref="tree=MeSH" title="MedGen record for Muscular dystrophy">Muscular dystrophy</a></span><ul><li><span class="matched_ds">Emery-Dreifuss muscular dystrophy</span><ul><li><span class="TLline"><a href="/medgen/976017" ref="tree=MeSH" title="MedGen record for Autosomal dominant Emery-Dreifuss muscular dystrophy">Autosomal dominant Emery-Dreifuss muscular dystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/98048" ref="tree=MeSH" title="MedGen record for Emery-Dreifuss muscular dystrophy 2, autosomal dominant">Emery-Dreifuss muscular dystrophy 2, autosomal dominant</a></span></li><li><span class="TLline"><a href="/medgen/414476" ref="tree=MeSH" title="MedGen record for Emery-Dreifuss muscular dystrophy 4, autosomal dominant">Emery-Dreifuss muscular dystrophy 4, autosomal dominant</a></span></li><li><span class="TLline"><a href="/medgen/414111" ref="tree=MeSH" title="MedGen record for Emery-Dreifuss muscular dystrophy 5, autosomal dominant">Emery-Dreifuss muscular dystrophy 5, autosomal dominant</a></span></li><li><span class="TLline"><a href="/medgen/765974" ref="tree=MeSH" title="MedGen record for Emery-Dreifuss muscular dystrophy 7, autosomal dominant">Emery-Dreifuss muscular dystrophy 7, autosomal dominant</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1708803" ref="tree=MeSH" title="MedGen record for Autosomal Emery-Dreifuss Muscular Dystrophy">Autosomal Emery-Dreifuss Muscular Dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/259643" ref="tree=MeSH" title="MedGen record for Autosomal recessive Emery-Dreifuss muscular dystrophy">Autosomal recessive Emery-Dreifuss muscular dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/1720295" ref="tree=MeSH" title="MedGen record for Emery-Dreifuss muscular dystrophy 1, X-linked">Emery-Dreifuss muscular dystrophy 1, X-linked</a></span></li><li><span class="TLline"><a href="/medgen/413212" ref="tree=MeSH" title="MedGen record for Emery-Dreifuss muscular dystrophy 3, autosomal recessive">Emery-Dreifuss muscular dystrophy 3, autosomal recessive</a></span></li><li><span class="TLline"><a href="/medgen/148284" ref="tree=MeSH" title="MedGen record for X-linked Emery-Dreifuss muscular dystrophy">X-linked Emery-Dreifuss muscular dystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/440709" ref="tree=MeSH" title="MedGen record for Emery-Dreifuss muscular dystrophy 6">Emery-Dreifuss muscular dystrophy 6</a></span></li><li><span class="TLline"><a href="/medgen/395525" ref="tree=MeSH" title="MedGen record for X-linked myopathy with postural muscle atrophy">X-linked myopathy with postural muscle atrophy</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=59&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Emery-Dreifuss muscular dystrophy</span> in Orphanet.</div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_105">
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<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>
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<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>
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<div class="nl"><a target="_blank" href="/pubmed/35500790">2022 HRS expert consensus statement on evaluation and management of arrhythmic risk in neuromuscular disorders.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Groh WJ,
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Bhakta D,
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Tomaselli GF,
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Aleong RG,
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Teixeira RA,
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Amato A,
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Asirvatham SJ,
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Cha YM,
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Corrado D,
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Duboc D,
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Goldberger ZD,
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Horie M,
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Hornyak JE,
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Jefferies JL,
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Kääb S,
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Kalman JM,
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Kertesz NJ,
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Lakdawala NK,
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Lambiase PD,
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Lubitz SA,
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McMillan HJ,
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McNally EM,
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Milone M,
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Namboodiri N,
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Nazarian S,
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Patton KK,
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Russo V,
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Sacher F,
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Santangeli P,
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Shen WK,
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Sobral Filho DC,
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Stambler BS,
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Stöllberger C,
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Wahbi K,
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Wehrens XHT,
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Weiner MM,
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Wheeler MT,
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Zeppenfeld K</span><br />
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<span class="medgenPMjournal">Heart Rhythm</span>
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2022 Oct;19(10):e61-e120.
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Epub 2022 Apr 29
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doi: 10.1016/j.hrthm.2022.04.022.
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<span class="bold">PMID: </span><a href="/pubmed/35500790" target="_blank">35500790</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/30518714">Cardiac Involvement in Emery-Dreifuss Muscular Dystrophy and Related Management Strategies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Wang S,
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Peng D</span><br />
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<span class="medgenPMjournal">Int Heart J</span>
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2019 Jan 25;60(1):12-18.
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Epub 2018 Dec 5
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doi: 10.1536/ihj.17-604.
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<span class="bold">PMID: </span><a href="/pubmed/30518714" target="_blank">30518714</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/27197572">Prenatal diagnosis of congenital myopathies and muscular dystrophies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Massalska D,
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Zimowski JG,
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Bijok J,
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Kucińska-Chahwan A,
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Łusakowska A,
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Jakiel G,
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Roszkowski T</span><br />
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<span class="medgenPMjournal">Clin Genet</span>
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2016 Sep;90(3):199-210.
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Epub 2016 Jun 2
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doi: 10.1111/cge.12801.
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<span class="bold">PMID: </span><a href="/pubmed/27197572" target="_blank">27197572</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22emery-dreifuss%20muscular%20dystrophy%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 (10)</a></div></div>
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|
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<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/35500790">2022 HRS expert consensus statement on evaluation and management of arrhythmic risk in neuromuscular disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Groh WJ,
|
||
Bhakta D,
|
||
Tomaselli GF,
|
||
Aleong RG,
|
||
Teixeira RA,
|
||
Amato A,
|
||
Asirvatham SJ,
|
||
Cha YM,
|
||
Corrado D,
|
||
Duboc D,
|
||
Goldberger ZD,
|
||
Horie M,
|
||
Hornyak JE,
|
||
Jefferies JL,
|
||
Kääb S,
|
||
Kalman JM,
|
||
Kertesz NJ,
|
||
Lakdawala NK,
|
||
Lambiase PD,
|
||
Lubitz SA,
|
||
McMillan HJ,
|
||
McNally EM,
|
||
Milone M,
|
||
Namboodiri N,
|
||
Nazarian S,
|
||
Patton KK,
|
||
Russo V,
|
||
Sacher F,
|
||
Santangeli P,
|
||
Shen WK,
|
||
Sobral Filho DC,
|
||
Stambler BS,
|
||
Stöllberger C,
|
||
Wahbi K,
|
||
Wehrens XHT,
|
||
Weiner MM,
|
||
Wheeler MT,
|
||
Zeppenfeld K</span><br />
|
||
<span class="medgenPMjournal">Heart Rhythm</span>
|
||
2022 Oct;19(10):e61-e120.
|
||
Epub 2022 Apr 29
|
||
doi: 10.1016/j.hrthm.2022.04.022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35500790" target="_blank">35500790</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33036437">Need for NAD(+): Focus on Striated Muscle Laminopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cardoso D,
|
||
Muchir A</span><br />
|
||
<span class="medgenPMjournal">Cells</span>
|
||
2020 Oct 7;9(10)
|
||
doi: 10.3390/cells9102248.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33036437" target="_blank">33036437</a><a href="/pmc/articles/PMC7599962" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30518714">Cardiac Involvement in Emery-Dreifuss Muscular Dystrophy and Related Management Strategies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang S,
|
||
Peng D</span><br />
|
||
<span class="medgenPMjournal">Int Heart J</span>
|
||
2019 Jan 25;60(1):12-18.
|
||
Epub 2018 Dec 5
|
||
doi: 10.1536/ihj.17-604.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30518714" target="_blank">30518714</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15083706">Emery-Dreifuss muscular dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">De Smet L</span><br />
|
||
<span class="medgenPMjournal">Genet Couns</span>
|
||
2004;15(1):91-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15083706" target="_blank">15083706</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11879882">The muscular dystrophies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Emery AE</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2002 Feb 23;359(9307):687-95.
|
||
doi: 10.1016/S0140-6736(02)07815-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11879882" target="_blank">11879882</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Emery-Dreifuss%20muscular%20dystrophy%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 (83)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38112376">COMPREHENSIVE CARDIOVASCULAR THERAPY IN EMERY-DREIFUSS MUSCULAR DYSTROPHY: A CASE REPORT.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chendey TV,
|
||
Rishko MV,
|
||
Chendey VI</span><br />
|
||
<span class="medgenPMjournal">Wiad Lek</span>
|
||
2023;76(11):2531-2534.
|
||
doi: 10.36740/WLek202311130.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38112376" target="_blank">38112376</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35500790">2022 HRS expert consensus statement on evaluation and management of arrhythmic risk in neuromuscular disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Groh WJ,
|
||
Bhakta D,
|
||
Tomaselli GF,
|
||
Aleong RG,
|
||
Teixeira RA,
|
||
Amato A,
|
||
Asirvatham SJ,
|
||
Cha YM,
|
||
Corrado D,
|
||
Duboc D,
|
||
Goldberger ZD,
|
||
Horie M,
|
||
Hornyak JE,
|
||
Jefferies JL,
|
||
Kääb S,
|
||
Kalman JM,
|
||
Kertesz NJ,
|
||
Lakdawala NK,
|
||
Lambiase PD,
|
||
Lubitz SA,
|
||
McMillan HJ,
|
||
McNally EM,
|
||
Milone M,
|
||
Namboodiri N,
|
||
Nazarian S,
|
||
Patton KK,
|
||
Russo V,
|
||
Sacher F,
|
||
Santangeli P,
|
||
Shen WK,
|
||
Sobral Filho DC,
|
||
Stambler BS,
|
||
Stöllberger C,
|
||
Wahbi K,
|
||
Wehrens XHT,
|
||
Weiner MM,
|
||
Wheeler MT,
|
||
Zeppenfeld K</span><br />
|
||
<span class="medgenPMjournal">Heart Rhythm</span>
|
||
2022 Oct;19(10):e61-e120.
|
||
Epub 2022 Apr 29
|
||
doi: 10.1016/j.hrthm.2022.04.022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35500790" target="_blank">35500790</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32929712">Emery-Dreifuss muscular dystrophy as a possible cause of coronary embolism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tada A,
|
||
Konishi T,
|
||
Sato T,
|
||
Sato T,
|
||
Koizumi T,
|
||
Takenaka S,
|
||
Mizuguchi Y,
|
||
Kadosaka T,
|
||
Motoi K,
|
||
Kobayashi Y,
|
||
Komoriyama H,
|
||
Kato Y,
|
||
Omote K,
|
||
Tsujinaga S,
|
||
Kamada R,
|
||
Kamiya K,
|
||
Iwano H,
|
||
Nagai T,
|
||
Okazaki N,
|
||
Matsuno Y,
|
||
Anzai T</span><br />
|
||
<span class="medgenPMjournal">Cardiol J</span>
|
||
2020;27(4):443-444.
|
||
doi: 10.5603/CJ.2020.0120.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32929712" target="_blank">32929712</a><a href="/pmc/articles/PMC8016003" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31840275">Emery-Dreifuss muscular dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Heller SA,
|
||
Shih R,
|
||
Kalra R,
|
||
Kang PB</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2020 Apr;61(4):436-448.
|
||
Epub 2019 Dec 28
|
||
doi: 10.1002/mus.26782.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31840275" target="_blank">31840275</a><a href="/pmc/articles/PMC7154529" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11879882">The muscular dystrophies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Emery AE</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2002 Feb 23;359(9307):687-95.
|
||
doi: 10.1016/S0140-6736(02)07815-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11879882" target="_blank">11879882</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Emery-Dreifuss%20muscular%20dystrophy%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 (152)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37235886">253rd ENMC international workshop: Striated muscle laminopathies - natural history and clinical trial readiness. 24-26 June 2022, Hoofddorp, the Netherlands.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maggi L,
|
||
Quijano-Roy S,
|
||
Bönnemann C,
|
||
Bonne G;
|
||
253rd ENMC Laminopathies workshop study group</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2023 Jun;33(6):498-510.
|
||
Epub 2023 Apr 25
|
||
doi: 10.1016/j.nmd.2023.04.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37235886" target="_blank">37235886</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32757300">Plectin-related scapuloperoneal myopathy with treatment-responsive myasthenic syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Argente-Escrig H,
|
||
Schultheis D,
|
||
Kamm L,
|
||
Schowalter M,
|
||
Thiel C,
|
||
Türk M,
|
||
Clemen CS,
|
||
Muelas N,
|
||
Castañón MJ,
|
||
Wiche G,
|
||
Herrmann H,
|
||
Vilchez JJ,
|
||
Schröder R</span><br />
|
||
<span class="medgenPMjournal">Neuropathol Appl Neurobiol</span>
|
||
2021 Feb;47(2):352-356.
|
||
Epub 2020 Aug 23
|
||
doi: 10.1111/nan.12652.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32757300" target="_blank">32757300</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30518714">Cardiac Involvement in Emery-Dreifuss Muscular Dystrophy and Related Management Strategies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang S,
|
||
Peng D</span><br />
|
||
<span class="medgenPMjournal">Int Heart J</span>
|
||
2019 Jan 25;60(1):12-18.
|
||
Epub 2018 Dec 5
|
||
doi: 10.1536/ihj.17-604.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30518714" target="_blank">30518714</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30510046">Cardiac manifestations in Emery-Dreifuss muscular dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Faiella W,
|
||
Bessoudo R</span><br />
|
||
<span class="medgenPMjournal">CMAJ</span>
|
||
2018 Dec 3;190(48):E1414-E1417.
|
||
doi: 10.1503/cmaj.180410.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30510046" target="_blank">30510046</a><a href="/pmc/articles/PMC6258222" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22179395">Successful intravenous rt-PA thrombolysis for a childhood cardioembolic stroke with Emery-Dreifuss muscular dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tanaka K,
|
||
Uehara T,
|
||
Sato K,
|
||
Amano T,
|
||
Minematsu K,
|
||
Toyoda K</span><br />
|
||
<span class="medgenPMjournal">Cerebrovasc Dis</span>
|
||
2012;33(1):92-3.
|
||
Epub 2011 Dec 13
|
||
doi: 10.1159/000331930.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22179395" target="_blank">22179395</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Emery-Dreifuss%20muscular%20dystrophy%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 (13)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37794383">A novel heterozygous missense MYH7 mutation potentially causes an autosomal dominant form of myosin storage myopathy with dilated cardiomyopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Naderi N,
|
||
Mohsen-Pour N,
|
||
Nilipour Y,
|
||
Pourirahim M,
|
||
Maleki M,
|
||
Kalayinia S</span><br />
|
||
<span class="medgenPMjournal">BMC Cardiovasc Disord</span>
|
||
2023 Oct 4;23(1):487.
|
||
doi: 10.1186/s12872-023-03538-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37794383" target="_blank">37794383</a><a href="/pmc/articles/PMC10552240" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35922275">Clinical and genetic characteristics of Emery-Dreifuss muscular dystrophy patients from Turkey: 30 years longitudinal follow-up study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yunisova G,
|
||
Ceylaner S,
|
||
Oflazer P,
|
||
Deymeer F,
|
||
Parman YG,
|
||
Durmus H</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2022 Sep;32(9):718-727.
|
||
Epub 2022 Jul 13
|
||
doi: 10.1016/j.nmd.2022.07.397.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35922275" target="_blank">35922275</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29619865">Mechanotransduction, nuclear architecture and epigenetics in Emery Dreifuss Muscular Dystrophy: tous pour un, un pour tous.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bianchi A,
|
||
Manti PG,
|
||
Lucini F,
|
||
Lanzuolo C</span><br />
|
||
<span class="medgenPMjournal">Nucleus</span>
|
||
2018 Jan 1;9(1):276-290.
|
||
doi: 10.1080/19491034.2018.1460044.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29619865" target="_blank">29619865</a><a href="/pmc/articles/PMC5973142" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17546924">Genetic pattern of 3 cases of Emery-Dreifuss muscular dystrophy in a family.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yazdanpanah P,
|
||
Javan A,
|
||
Nadimi B,
|
||
Shirazi HR</span><br />
|
||
<span class="medgenPMjournal">East Mediterr Health J</span>
|
||
2007 Jan-Feb;13(1):201-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17546924" target="_blank">17546924</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11879882">The muscular dystrophies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Emery AE</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2002 Feb 23;359(9307):687-95.
|
||
doi: 10.1016/S0140-6736(02)07815-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11879882" target="_blank">11879882</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Emery-Dreifuss%20muscular%20dystrophy%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 (60)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36250567">Surgical Treatment for Severe Cervical Hyperlordosis and Thoracolumar Kyphoscoliosis with Emery-Dreifuss Muscular Dystrophy: A Case Report and Literature Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tang Z,
|
||
Hu Z,
|
||
Qin X,
|
||
Zhu Z,
|
||
Liu Z</span><br />
|
||
<span class="medgenPMjournal">Orthop Surg</span>
|
||
2022 Dec;14(12):3448-3454.
|
||
Epub 2022 Oct 17
|
||
doi: 10.1111/os.13526.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36250567" target="_blank">36250567</a><a href="/pmc/articles/PMC9732636" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34783354">Predictors of mortality and cardiovascular outcomes in Emery-Dreifuss muscular dystrophy in a long-term follow-up.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marchel M,
|
||
Madej-Pilarczyk A,
|
||
Steckiewicz R,
|
||
Stolarz P,
|
||
Peller M,
|
||
Tymińska A,
|
||
Ostrowska E,
|
||
Ozierański K,
|
||
Balsam P,
|
||
Grabowski M,
|
||
Opolski G</span><br />
|
||
<span class="medgenPMjournal">Kardiol Pol</span>
|
||
2021;79(12):1335-1342.
|
||
Epub 2021 Nov 16
|
||
doi: 10.33963/KP.a2021.0159.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34783354" target="_blank">34783354</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17701980">A novel mutation in the central rod domain of lamin A/C producing a phenotype resembling the Emery-Dreifuss muscular dystrophy phenotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maioli MA,
|
||
Marrosu G,
|
||
Mateddu A,
|
||
Solla E,
|
||
Carboni N,
|
||
Tacconi P,
|
||
Lai C,
|
||
Marrosu MG</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2007 Dec;36(6):828-32.
|
||
doi: 10.1002/mus.20879.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17701980" target="_blank">17701980</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15965218">Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Benedetti S,
|
||
Bertini E,
|
||
Iannaccone S,
|
||
Angelini C,
|
||
Trisciani M,
|
||
Toniolo D,
|
||
Sferrazza B,
|
||
Carrera P,
|
||
Comi G,
|
||
Ferrari M,
|
||
Quattrini A,
|
||
Previtali SC</span><br />
|
||
<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
|
||
2005 Jul;76(7):1019-21.
|
||
doi: 10.1136/jnnp.2004.046110.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15965218" target="_blank">15965218</a><a href="/pmc/articles/PMC1739728" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10220866">Emerin and cardiomyopathy in Emery-Dreifuss muscular dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Funakoshi M,
|
||
Tsuchiya Y,
|
||
Arahata K</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
1999 Mar;9(2):108-14.
|
||
doi: 10.1016/s0960-8966(98)00097-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10220866" target="_blank">10220866</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Emery-Dreifuss%20muscular%20dystrophy%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 (61)</a></div></div>
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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=C0410189%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (16)</a></li>
|
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<li><a href="/gtr/tests?term=C0410189%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (1)</a></li>
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<li><a href="/gtr/tests?term=C0410189%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
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