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<meta name="keywords" content="C4551827, disease or syndrome, hereditary progressive muscular dystrophy, progressive muscular dystrophy, 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="" /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=1633060
|
||
ConceptID=C4551827
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Progressive muscular dystrophy</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1633060</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:">C4551827</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>Hereditary progressive muscular dystrophy; progressive muscular dystrophy</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Hereditary progressive muscular dystrophy (193225000)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0016106" target="_blank">MONDO:0016106</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=206644">ORPHA206644</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_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="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4551827[DISCUI]&test_type=Clinical" ref="ncbi_uid=1633060">C</a></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 Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1633060" ref="ncbi_uid=1633060">V</a></span></span><span class="TLline">Progressive muscular dystrophy</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="matched_ds">Progressive muscular dystrophy</span><ul><li><span class="TLline"><a href="/medgen/331805" ref="tree=MeSH" title="MedGen record for Bethlem myopathy">Bethlem myopathy</a></span><ul><li><span class="TLline"><a href="/medgen/907426" ref="tree=MeSH" title="MedGen record for Bethlem myopathy 2">Bethlem myopathy 2</a></span></li><li><span class="TLline"><a href="/medgen/893688" ref="tree=MeSH" title="MedGen record for Bethlem myopathy 1A">Bethlem myopathy 1A</a></span></li><li><span class="TLline"><a href="/medgen/1859128" ref="tree=MeSH" title="MedGen record for Bethlem myopathy 1B">Bethlem myopathy 1B</a></span></li><li><span class="TLline"><a href="/medgen/1854240" ref="tree=MeSH" title="MedGen record for Bethlem myopathy 1C">Bethlem myopathy 1C</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1800286" ref="tree=MeSH" title="MedGen record for Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome">Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/724506" ref="tree=MeSH" title="MedGen record for Congenital fibrosis of extraocular muscles">Congenital fibrosis of extraocular muscles</a></span><ul><li><span class="TLline"><a href="/medgen/376943" ref="tree=MeSH" title="MedGen record for Congenital fibrosis of extraocular muscles type 1">Congenital fibrosis of extraocular muscles type 1</a></span></li><li><span class="TLline"><a href="/medgen/468527" ref="tree=MeSH" title="MedGen record for Congenital Fibrosis of the Extraocular Muscles 4">Congenital Fibrosis of the Extraocular Muscles 4</a></span></li><li><span class="TLline"><a href="/medgen/356119" ref="tree=MeSH" title="MedGen record for Fibrosis of extraocular muscles, congenital, 2">Fibrosis of extraocular muscles, congenital, 2</a></span></li><li><span class="TLline"><a href="/medgen/412638" ref="tree=MeSH" title="MedGen record for Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement">Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement</a></span></li><li><span class="TLline"><a href="/medgen/416468" ref="tree=MeSH" title="MedGen record for Fibrosis of extraocular muscles, congenital, 3b">Fibrosis of extraocular muscles, congenital, 3b</a></span></li><li><span class="TLline"><a href="/medgen/412956" ref="tree=MeSH" title="MedGen record for Fibrosis of extraocular muscles, congenital, 3c">Fibrosis of extraocular muscles, congenital, 3c</a></span></li><li><span class="TLline"><a href="/medgen/351285" ref="tree=MeSH" title="MedGen record for Fibrosis of extraocular muscles, congenital, with synergistic divergence">Fibrosis of extraocular muscles, congenital, with synergistic divergence</a></span></li><li><span class="TLline"><a href="/medgen/332153" ref="tree=MeSH" title="MedGen record for Tukel syndrome">Tukel syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/96078" ref="tree=MeSH" title="MedGen record for Emery-Dreifuss muscular dystrophy">Emery-Dreifuss muscular dystrophy</a></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><li><span class="TLline"><a href="/medgen/418981" ref="tree=MeSH" title="MedGen record for Epidermolysis bullosa simplex 5B, with muscular dystrophy">Epidermolysis bullosa simplex 5B, with muscular dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/65956" ref="tree=MeSH" title="MedGen record for Facioscapulohumeral muscular dystrophy">Facioscapulohumeral muscular dystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/1727901" ref="tree=MeSH" title="MedGen record for Facioscapulohumeral muscular dystrophy 1">Facioscapulohumeral muscular dystrophy 1</a></span></li><li><span class="TLline"><a href="/medgen/320405" ref="tree=MeSH" title="MedGen record for Facioscapulohumeral muscular dystrophy 2">Facioscapulohumeral muscular dystrophy 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/350930" ref="tree=MeSH" title="MedGen record for Myopathy, myofibrillar, 9, with early respiratory failure">Myopathy, myofibrillar, 9, with early respiratory failure</a></span></li><li><span class="TLline"><a href="/medgen/75730" ref="tree=MeSH" title="MedGen record for Oculopharyngeal muscular dystrophy">Oculopharyngeal muscular dystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/1054618" ref="tree=MeSH" title="MedGen record for Oculopharyngeal muscular dystrophy 1">Oculopharyngeal muscular dystrophy 1</a></span></li><li><span class="TLline"><a href="/medgen/1841318" ref="tree=MeSH" title="MedGen record for Oculopharyngeal muscular dystrophy 2">Oculopharyngeal muscular dystrophy 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/320250" ref="tree=MeSH" title="MedGen record for Oculopharyngodistal myopathy">Oculopharyngodistal myopathy</a></span><ul><li><span class="TLline"><a href="/medgen/1684682" ref="tree=MeSH" title="MedGen record for Oculopharyngodistal myopathy 1">Oculopharyngodistal myopathy 1</a></span></li><li><span class="TLline"><a href="/medgen/1718769" ref="tree=MeSH" title="MedGen record for Oculopharyngodistal myopathy 2">Oculopharyngodistal myopathy 2</a></span></li><li><span class="TLline"><a href="/medgen/1794166" ref="tree=MeSH" title="MedGen record for Oculopharyngodistal myopathy 3">Oculopharyngodistal myopathy 3</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/905125" ref="tree=MeSH" title="MedGen record for Progressive scapulohumeroperoneal distal myopathy">Progressive scapulohumeroperoneal distal myopathy</a></span></li><li><span class="TLline"><a href="/medgen/19892" ref="tree=MeSH" title="MedGen record for Schwartz-Jampel syndrome">Schwartz-Jampel syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1647990" ref="tree=MeSH" title="MedGen record for Schwartz-Jampel syndrome type 1">Schwartz-Jampel syndrome type 1</a></span></li><li><span class="TLline"><a href="/medgen/167109" ref="tree=MeSH" title="MedGen record for Stuve-Wiedemann syndrome">Stuve-Wiedemann syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1805977" ref="tree=MeSH" title="MedGen record for Stuve-Wiedemann syndrome 2">Stuve-Wiedemann syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/1803541" ref="tree=MeSH" title="MedGen record for Stüve-Wiedemann syndrome 1">Stüve-Wiedemann syndrome 1</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/374264" ref="tree=MeSH" title="MedGen record for X-linked myopathy with excessive autophagy">X-linked myopathy with excessive autophagy</a></span></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/5911163">Treatment of progressive muscular dystrophy by combined infusions of glucose and insulin.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Blietz RJ</span><br />
|
||
<span class="medgenPMjournal">Ger Med Mon</span>
|
||
1966 Jul;11(7):280-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/5911163" target="_blank">5911163</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14313408">ANABOLIC STEROIDS AND DIGITOXIN IN THE TREATMENT OF PROGRESSIVE MUSCULAR DYSTROPHY.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">HEYCK H,
|
||
LAUDAHN G,
|
||
LUEDERS CJ,
|
||
MUELLER-STEPHANN H,
|
||
SCHMIDT-PETER P</span><br />
|
||
<span class="medgenPMjournal">Acta Paediatr Scand</span>
|
||
1965 May;54:205-17.
|
||
doi: 10.1111/j.1651-2227.1965.tb06364.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14313408" target="_blank">14313408</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/13272799">Treatment of muscular dystrophy with amino acids and vitamins.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">WALD SM,
|
||
LAM RL</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
1955 Dec;5(12):887-90.
|
||
doi: 10.1212/wnl.5.12.887.
|
||
<span class="bold">PMID: </span><a href="/pubmed/13272799" target="_blank">13272799</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22progressive%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 (17)</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/35484142">Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim HJ,
|
||
Mohassel P,
|
||
Donkervoort S,
|
||
Guo L,
|
||
O'Donovan K,
|
||
Coughlin M,
|
||
Lornage X,
|
||
Foulds N,
|
||
Hammans SR,
|
||
Foley AR,
|
||
Fare CM,
|
||
Ford AF,
|
||
Ogasawara M,
|
||
Sato A,
|
||
Iida A,
|
||
Munot P,
|
||
Ambegaonkar G,
|
||
Phadke R,
|
||
O'Donovan DG,
|
||
Buchert R,
|
||
Grimmel M,
|
||
Töpf A,
|
||
Zaharieva IT,
|
||
Brady L,
|
||
Hu Y,
|
||
Lloyd TE,
|
||
Klein A,
|
||
Steinlin M,
|
||
Kuster A,
|
||
Mercier S,
|
||
Marcorelles P,
|
||
Péréon Y,
|
||
Fleurence E,
|
||
Manzur A,
|
||
Ennis S,
|
||
Upstill-Goddard R,
|
||
Bello L,
|
||
Bertolin C,
|
||
Pegoraro E,
|
||
Salviati L,
|
||
French CE,
|
||
Shatillo A,
|
||
Raymond FL,
|
||
Haack TB,
|
||
Quijano-Roy S,
|
||
Böhm J,
|
||
Nelson I,
|
||
Stojkovic T,
|
||
Evangelista T,
|
||
Straub V,
|
||
Romero NB,
|
||
Laporte J,
|
||
Muntoni F,
|
||
Nishino I,
|
||
Tarnopolsky MA,
|
||
Shorter J,
|
||
Bönnemann CG,
|
||
Taylor JP</span><br />
|
||
<span class="medgenPMjournal">Nat Commun</span>
|
||
2022 Apr 28;13(1):2306.
|
||
doi: 10.1038/s41467-022-30015-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35484142" target="_blank">35484142</a><a href="/pmc/articles/PMC9050844" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8894416">Advances in the molecular genetics of the limb-girdle type of autosomal recessive progressive muscular dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Beckmann JS,
|
||
Bushby KM</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Neurol</span>
|
||
1996 Oct;9(5):389-93.
|
||
doi: 10.1097/00019052-199610000-00013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8894416" target="_blank">8894416</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8232775">Effects of electrical stimulation on muscles of children with Duchenne and Becker muscular dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zupan A,
|
||
Gregoric M,
|
||
Valencic V,
|
||
Vandot S</span><br />
|
||
<span class="medgenPMjournal">Neuropediatrics</span>
|
||
1993 Aug;24(4):189-92.
|
||
doi: 10.1055/s-2008-1071537.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8232775" target="_blank">8232775</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4418859">Childhood progressive muscular dystrophy and the role of physical therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Harris SE,
|
||
Cherry DB</span><br />
|
||
<span class="medgenPMjournal">Phys Ther</span>
|
||
1974 Jan;54(1):4-12.
|
||
doi: 10.1093/ptj/54.1.4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4418859" target="_blank">4418859</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4639732">The vectorcardiogram in Duchenne's progressive muscular dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ronan JA Jr,
|
||
Perloff JK,
|
||
Bowen PJ,
|
||
Mann O</span><br />
|
||
<span class="medgenPMjournal">Am Heart J</span>
|
||
1972 Nov;84(5):588-96.
|
||
doi: 10.1016/0002-8703(72)90172-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4639732" target="_blank">4639732</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Progressive%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 (73)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/24274203">50 years ago in the Journal of Pediatrics: the use of serum creatine phosphokinase and other serum enzymes in the diagnosis of progressive muscular dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Proud CM</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
2013 Dec;163(6):1656.
|
||
doi: 10.1016/j.jpeds.2013.06.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24274203" target="_blank">24274203</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4418859">Childhood progressive muscular dystrophy and the role of physical therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Harris SE,
|
||
Cherry DB</span><br />
|
||
<span class="medgenPMjournal">Phys Ther</span>
|
||
1974 Jan;54(1):4-12.
|
||
doi: 10.1093/ptj/54.1.4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4418859" target="_blank">4418859</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6038870">Diagnosis of progressive muscular dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vignos PJ Jr</span><br />
|
||
<span class="medgenPMjournal">J Bone Joint Surg Am</span>
|
||
1967 Sep;49(6):1212-20.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6038870" target="_blank">6038870</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6026203">The Frank vectorcardiogram and the electrocardiogram in Duchenne progressive muscular dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fitch CW,
|
||
Ainger LE</span><br />
|
||
<span class="medgenPMjournal">Circulation</span>
|
||
1967 Jun;35(6):1124-40.
|
||
doi: 10.1161/01.cir.35.6.1124.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6026203" target="_blank">6026203</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/5334619">Progressive muscular dystrophy. (Literature review).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Siregar H</span><br />
|
||
<span class="medgenPMjournal">Paediatr Indones</span>
|
||
1965 Jul-Dec;5(3):76-88.
|
||
<span class="bold">PMID: </span><a href="/pubmed/5334619" target="_blank">5334619</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Progressive%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 (106)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/1450492">Therapeutic trials on progressive muscular dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Satoyoshi E</span><br />
|
||
<span class="medgenPMjournal">Intern Med</span>
|
||
1992 Jul;31(7):841-6.
|
||
doi: 10.2169/internalmedicine.31.841.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1450492" target="_blank">1450492</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4125348">Coenzymatic therapy in progressive muscular dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Radu H</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
1973 Sep 8;2(7828):576.
|
||
doi: 10.1016/s0140-6736(73)92406-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4125348" target="_blank">4125348</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/5911163">Treatment of progressive muscular dystrophy by combined infusions of glucose and insulin.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Blietz RJ</span><br />
|
||
<span class="medgenPMjournal">Ger Med Mon</span>
|
||
1966 Jul;11(7):280-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/5911163" target="_blank">5911163</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/13312881">Muscular dystrophy. VIII. Trials of protein hydrolysate, vitamin supplements, and physical therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">DONALDSON JS,
|
||
WRATNEY MJ,
|
||
PASCASSIO A,
|
||
WEIGAND FA,
|
||
DANOWSKI TS</span><br />
|
||
<span class="medgenPMjournal">AMA J Dis Child</span>
|
||
1956 May;91(5):449-53.
|
||
doi: 10.1001/archpedi.1956.02060020451005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/13312881" target="_blank">13312881</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/13272799">Treatment of muscular dystrophy with amino acids and vitamins.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">WALD SM,
|
||
LAM RL</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
1955 Dec;5(12):887-90.
|
||
doi: 10.1212/wnl.5.12.887.
|
||
<span class="bold">PMID: </span><a href="/pubmed/13272799" target="_blank">13272799</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Progressive%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 (36)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/10967589">A 15-year-old male with progressive muscular dystrophy of the becker type and severe heart failure.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMjournal">Arq Bras Cardiol</span>
|
||
2000 Apr;74(4):360-4.
|
||
doi: 10.1590/s0066-782x2000000400008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10967589" target="_blank">10967589</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4418859">Childhood progressive muscular dystrophy and the role of physical therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Harris SE,
|
||
Cherry DB</span><br />
|
||
<span class="medgenPMjournal">Phys Ther</span>
|
||
1974 Jan;54(1):4-12.
|
||
doi: 10.1093/ptj/54.1.4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4418859" target="_blank">4418859</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/5816664">Natural history of progressive muscular dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kobayashi A,
|
||
Tokunaga J,
|
||
Oshiro T,
|
||
Iwamoto A</span><br />
|
||
<span class="medgenPMjournal">Nihon Seikeigeka Gakkai Zasshi</span>
|
||
1969 Apr;43(4):323-34.
|
||
<span class="bold">PMID: </span><a href="/pubmed/5816664" target="_blank">5816664</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6026203">The Frank vectorcardiogram and the electrocardiogram in Duchenne progressive muscular dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fitch CW,
|
||
Ainger LE</span><br />
|
||
<span class="medgenPMjournal">Circulation</span>
|
||
1967 Jun;35(6):1124-40.
|
||
doi: 10.1161/01.cir.35.6.1124.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6026203" target="_blank">6026203</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/5939994">Recent treatment of progressive muscular dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tunbridge PB,
|
||
Diamond C</span><br />
|
||
<span class="medgenPMjournal">Med J Aust</span>
|
||
1966 Jun 4;1(23):962-5.
|
||
doi: 10.5694/j.1326-5377.1966.tb73153.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/5939994" target="_blank">5939994</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Progressive%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 (46)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35428982">Randomized phase 2 study of ACE-083, a muscle-promoting agent, in facioscapulohumeral muscular dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Statland JM,
|
||
Campbell C,
|
||
Desai U,
|
||
Karam C,
|
||
Díaz-Manera J,
|
||
Guptill JT,
|
||
Korngut L,
|
||
Genge A,
|
||
Tawil RN,
|
||
Elman L,
|
||
Joyce NC,
|
||
Wagner KR,
|
||
Manousakis G,
|
||
Amato AA,
|
||
Butterfield RJ,
|
||
Shieh PB,
|
||
Wicklund M,
|
||
Gamez J,
|
||
Bodkin C,
|
||
Pestronk A,
|
||
Weihl CC,
|
||
Vilchez-Padilla JJ,
|
||
Johnson NE,
|
||
Mathews KD,
|
||
Miller B,
|
||
Leneus A,
|
||
Fowler M,
|
||
van de Rijn M,
|
||
Attie KM</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2022 Jul;66(1):50-62.
|
||
Epub 2022 May 9
|
||
doi: 10.1002/mus.27558.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35428982" target="_blank">35428982</a><a href="/pmc/articles/PMC9321022" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3358657">Brown adipose tissue in Duchenne's progressive muscular dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ito M,
|
||
Sekine I,
|
||
Fujii H,
|
||
Ogawa M</span><br />
|
||
<span class="medgenPMjournal">Arch Pathol Lab Med</span>
|
||
1988 May;112(5):550-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3358657" target="_blank">3358657</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6008646">A family of progressive muscular dystrophy with mental retardation. Clinical observations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Suga M,
|
||
Yoshimuta S,
|
||
Hayashi Y,
|
||
Sakamoto F</span><br />
|
||
<span class="medgenPMjournal">Jinrui Idengaku Zasshi</span>
|
||
1966 Mar;10(4):189-92.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6008646" target="_blank">6008646</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14118493">CLINICAL, HEMODYNAMIC, ELECTROCARDIOGRAPHIC, AND VECTORCARDIOGRAPHIC OBSERVATIONS IN PROGRESSIVE MUSCULAR DYSTROPHY OF 34 YEARS' DURATION.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">DUKE M,
|
||
CROSBY DJ</span><br />
|
||
<span class="medgenPMjournal">Am Heart J</span>
|
||
1964 Feb;67:251-7.
|
||
doi: 10.1016/0002-8703(64)90376-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14118493" target="_blank">14118493</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/13663795">Clinical and EEG observations in patients with progressive muscular dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">WAYNE HL,
|
||
BROWNE-MAYERS AN</span><br />
|
||
<span class="medgenPMjournal">Dis Nerv Syst</span>
|
||
1959 Jul;20(7):288-91.
|
||
<span class="bold">PMID: </span><a href="/pubmed/13663795" target="_blank">13663795</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Progressive%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 (81)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
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|
||
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4551827%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C4551827%5bDISCUI%5d&filter=method%3A2%5F12" target="_blank">Microsatellite instability testing (MSI) (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C4551827%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C4551827%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
|
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4551827%5bDISCUI%5d" target="_blank">See all (3)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=206644" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Progressive%20muscular%20dystrophy" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C4551827[DISCUI]" ref="log$=recordlinks">GTR</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cff8fea68b6b5afc4e4a11">Progressive muscular dystrophy</a>
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<div class="ralinkpop offscreen_noflow">Progressive muscular dystrophy<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67cff8fcf4a390645e1f4af8">C4551827[conceptid] <span class="number">(1)</span></a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67cff8fba68b6b5afc4e3684">C4225153[trait identifier] AND "Molecular Genetics, Royal Melbour... <span class="number">(4)</span></a>
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