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<div><div class="rprt full-rprt"><div class="portlet" style="border-top-style: none; margin-top: 0px; padding-top: 0px; margin-bottom: 0px; padding-left: 0.2em;">
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<!--
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||
UID=65956
|
||
ConceptID=C0238288
|
||
-->
|
||
<!--imgCountBooks = 2--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Images (2)</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1443/bin/fsh-Image001.gif" src-large="/books/NBK1443/bin/fsh-Image001.jpg" /></a><br /><a href="/books/NBK1443/figure/fsh.F1/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1443/bin/fsh-Image002.gif" src-large="/books/NBK1443/bin/fsh-Image002.jpg" /></a><br /><a href="/books/NBK1443/figure/fsh.F2/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Facioscapulohumeral muscular dystrophy<span class="h1sub">(FSHMD1A)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65956</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.">C0238288</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>FSHMD1A; LANDOUZY-DEJERINE MUSCULAR DYSTROPHY</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Facioscapulohumeral muscular dystrophy (399091004); FSH - Facioscapulohumeral muscular dystrophy (399091004); Landouzy-Déjérine muscular dystrophy (399091004); Landouzy-Dejerine muscular dystrophy (399091004); FSHD - Facioscapulohumeral muscular dystrophy (399091004); FMD - Facioscapulohumeral muscular dystrophy (399091004); Fascioscapulohumeral muscular dystrophy (399091004)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0001347" target="_blank">MONDO:0001347</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/158900" target="_blank">158900</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS158900" target="_blank">PS158900</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=269">ORPHA269</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_101">
|
||
<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/NBK1443" target="_blank">Facioscapulohumeral Muscular Dystrophy</a></div><div>Facioscapulohumeral muscular dystrophy (FSHD) typically presents with weakness of the facial muscles, the stabilizers of the scapula, or the dorsiflexors of the foot. Severity is highly variable. Weakness is slowly progressive and approximately 20% of affected individuals eventually require a wheelchair. Life expectancy is not shortened. [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/NBK1443#fsh.Summary" target="NBK1443">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1443#fsh.Diagnosis" target="NBK1443">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1443#fsh.Clinical_Characteristics" target="NBK1443">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1443#fsh.Genetically_Related_Allelic_Disorder" target="NBK1443">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1443#fsh.Differential_Diagnosis" target="NBK1443">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1443#fsh.Management" target="NBK1443">Management</a> | <a class="medgenPMinfo" href="/books/NBK1443#fsh.Genetic_Counseling" target="NBK1443">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1443#fsh.Resources" target="NBK1443">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1443#fsh.Molecular_Genetics" target="NBK1443">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1443#fsh.References" target="NBK1443">References</a> | <a class="medgenPMinfo" href="/books/NBK1443#fsh.Chapter_Notes" target="NBK1443">Chapter Notes</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Matthew K Preston | Rabi Tawil | Leo H Wang <a href="/books/NBK1443" target="NBK1443" title="NCBI Bookshelf: Facioscapulohumeral Muscular Dystrophy">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Facioscapulohumeral muscular dystrophy (FSHD) is a progressive skeletal muscle disorder with a highly variable phenotype. Most patients present as adults, although about 10% show symptoms before the age of 5 years, including from infancy in some cases. In general, the disease initially involves the upper body, including the face and the scapulae, followed by weakness at the foot dorsiflexors and hip girdles. Typical features are striking asymmetry of muscle involvement from side to side and sparing of bulbar extraocular and respiratory muscles. There is significant clinical variability, even within families, as well as incomplete penetrance. FSHD1 accounts for about 95% of patients. Facioscapulohumeral muscular dystrophy is the third most common hereditary disease of muscle after Duchenne (DMD; 310200) and myotonic (160900) dystrophy (Tawil et al., 1998; van den Boogaard et al., 2016; Johnson and Ankala, 2020; Schatzl et al., 2021).
|
||
Richards et al. (2012) and Schatzl et al. (2021) provided detailed reviews of FSHD, including clinical features, genetics, diagnosis, pathogenesis, and potential therapeutic avenues.
|
||
Genetic Heterogeneity of FSHD
|
||
Several other genetic forms of FSHD that are clinically indistinguishable from FSHD1, but not associated with physical contraction of the D4Z4 microsatellite repeat, have been identified. Historically, these forms have collectively been called 'FSHD2.' Tissue from patients with 'FSHD2' shows D4Z4 hypomethylation on chromosomes 4 and 10, suggesting the presence of unique transactivating factors, some of which have been identified. Genetic forms of FSHD other than FSHD1 account for about 5% of patients overall (summary by Hamanaka et al., 2020; Johnson and Ankala, 2020; review by Schatzl et al., 2021).
|
||
FSHD2 (158901) is caused by mutation in the SMCHD1 gene (614982) on chromosome 18p11; FSHD3 (619477) by mutation in the LRIF1 gene (615354) on chromosome 1p13; and FSHD4 (619478) by mutation in the DMNT3B gene (602900) on chromosome 20q11. Patients with FSHD2, FSHD3, and FSHD4 also carry a 'permissive haplotype' on chromosome 4 (4qA) that promotes DUX4 (606009) expression. There is significant clinical variability and incomplete penetrance. <a target="_blank" href="http://www.omim.org/entry/158900">http://www.omim.org/entry/158900</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Facioscapulohumeral muscular dystrophy is a disorder characterized by muscle weakness and wasting (atrophy). This condition gets its name from the muscles that are affected most often: those of the face (facio-), around the shoulder blades (scapulo-), and in the upper arms (humeral). The signs and symptoms of facioscapulohumeral muscular dystrophy usually appear in adolescence. However, the onset and severity of the condition varies widely. Milder cases may not become noticeable until later in life, whereas rare severe cases become apparent in infancy or early childhood.<br /><br />Weakness involving the facial muscles or shoulders is usually the first symptom of this condition. Facial muscle weakness often makes it difficult to drink from a straw, whistle, or turn up the corners of the mouth when smiling. Weakness in muscles around the eyes can prevent the eyes from closing fully while a person is asleep, which can lead to dry eyes and other eye problems. For reasons that are unclear, weakness may be more severe in one side of the face than the other. Weak shoulder muscles tend to make the shoulder blades (scapulae) protrude from the back, a common sign known as scapular winging. Weakness in muscles of the shoulders and upper arms can make it difficult to raise the arms over the head or throw a ball.<br /><br />The muscle weakness associated with facioscapulohumeral muscular dystrophy worsens slowly over decades and may spread to other parts of the body. Weakness in muscles of the lower legs can lead to a condition called foot drop, which affects walking and increases the risk of falls. Muscular weakness in the hips and pelvis can make it difficult to climb stairs or walk long distances. Additionally, affected individuals may have an exaggerated curvature of the lower back (lordosis) due to weak abdominal muscles. About 20 percent of affected individuals eventually require the use of a wheelchair.<br /><br />Additional signs and symptoms of facioscapulohumeral muscular dystrophy can include mild high-tone hearing loss and abnormalities involving the light-sensitive tissue at the back of the eye (the retina). These signs are often not noticeable and may be discovered only during medical testing. Rarely, facioscapulohumeral muscular dystrophy affects the heart (cardiac) muscle or muscles needed for breathing.<br /><br />Researchers have described two types of facioscapulohumeral muscular dystrophy: type 1 (FSHD1) and type 2 (FSHD2). The two types have the same signs and symptoms and are distinguished by their genetic cause. <a target="_blank" href="https://medlineplus.gov/genetics/condition/facioscapulohumeral-muscular-dystrophy">https://medlineplus.gov/genetics/condition/facioscapulohumeral-muscular-dystrophy</a></div></div>
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</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><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=C0238288[DISCUI]&test_type=Clinical" ref="ncbi_uid=65956">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=65956" target="_blank" href="/omim/158900">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1443/" ref="ncbi_uid=65956">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Facioscapulohumeral muscular dystrophy</span></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">Facioscapulohumeral muscular dystrophy</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></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=62&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Facioscapulohumeral muscular dystrophy</span> in Orphanet.</div></div></div>
|
||
</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>
|
||
<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/38685133">Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Giardina E,
|
||
Camaño P,
|
||
Burton-Jones S,
|
||
Ravenscroft G,
|
||
Henning F,
|
||
Magdinier F,
|
||
van der Stoep N,
|
||
van der Vliet PJ,
|
||
Bernard R,
|
||
Tomaselli PJ,
|
||
Davis MR,
|
||
Nishino I,
|
||
Oflazer P,
|
||
Race V,
|
||
Vishnu VY,
|
||
Williams V,
|
||
Sobreira CFR,
|
||
van der Maarel SM,
|
||
Moore SA,
|
||
Voermans NC,
|
||
Lemmers RJLF</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2024 Jul;106(1):13-26.
|
||
Epub 2024 Apr 29
|
||
doi: 10.1111/cge.14533.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38685133" target="_blank">38685133</a><a href="/pmc/articles/PMC11147721" target="_blank" class="PubMedFree">Free PMC Article</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/26215885">Diagnosis and treatment of facioscapulohumeral muscular dystrophy: 2015 guidelines.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Karceski S</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2015 Jul 28;85(4):e41-3.
|
||
doi: 10.1212/WNL.0000000000001865.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26215885" target="_blank">26215885</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22facioscapulohumeral%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 (45)</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/38685133">Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Giardina E,
|
||
Camaño P,
|
||
Burton-Jones S,
|
||
Ravenscroft G,
|
||
Henning F,
|
||
Magdinier F,
|
||
van der Stoep N,
|
||
van der Vliet PJ,
|
||
Bernard R,
|
||
Tomaselli PJ,
|
||
Davis MR,
|
||
Nishino I,
|
||
Oflazer P,
|
||
Race V,
|
||
Vishnu VY,
|
||
Williams V,
|
||
Sobreira CFR,
|
||
van der Maarel SM,
|
||
Moore SA,
|
||
Voermans NC,
|
||
Lemmers RJLF</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2024 Jul;106(1):13-26.
|
||
Epub 2024 Apr 29
|
||
doi: 10.1111/cge.14533.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38685133" target="_blank">38685133</a><a href="/pmc/articles/PMC11147721" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38631764">Safety and efficacy of losmapimod in facioscapulohumeral muscular dystrophy (ReDUX4): a randomised, double-blind, placebo-controlled phase 2b trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tawil R,
|
||
Wagner KR,
|
||
Hamel JI,
|
||
Leung DG,
|
||
Statland JM,
|
||
Wang LH,
|
||
Genge A,
|
||
Sacconi S,
|
||
Lochmüller H,
|
||
Reyes-Leiva D,
|
||
Diaz-Manera J,
|
||
Alonso-Perez J,
|
||
Muelas N,
|
||
Vilchez JJ,
|
||
Pestronk A,
|
||
Gibson S,
|
||
Goyal NA,
|
||
Hayward LJ,
|
||
Johnson N,
|
||
LoRusso S,
|
||
Freimer M,
|
||
Shieh PB,
|
||
Subramony SH,
|
||
van Engelen B,
|
||
Kools J,
|
||
Leinhard OD,
|
||
Widholm P,
|
||
Morabito C,
|
||
Moxham CM,
|
||
Cadavid D,
|
||
Mellion ML,
|
||
Odueyungbo A,
|
||
Tracewell WG,
|
||
Accorsi A,
|
||
Ronco L,
|
||
Gould RJ,
|
||
Shoskes J,
|
||
Rojas LA,
|
||
Jiang JG</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2024 May;23(5):477-486.
|
||
doi: 10.1016/S1474-4422(24)00073-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38631764" target="_blank">38631764</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37073680">Scapulothoracic Fusion Using Multiple Suture Tape Cerclage.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ba PA,
|
||
Schoch B,
|
||
Werthel JD</span><br />
|
||
<span class="medgenPMjournal">Tech Hand Up Extrem Surg</span>
|
||
2023 Sep 1;27(3):175-181.
|
||
doi: 10.1097/BTH.0000000000000434.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37073680" target="_blank">37073680</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/31808555">Strength training and aerobic exercise training for muscle disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Voet NB,
|
||
van der Kooi EL,
|
||
van Engelen BG,
|
||
Geurts AC</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2019 Dec 6;12(12):CD003907.
|
||
doi: 10.1002/14651858.CD003907.pub5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31808555" target="_blank">31808555</a><a href="/pmc/articles/PMC6953420" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Facioscapulohumeral%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 (367)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39017649">Late-onset myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Salort-Campana E,
|
||
Attarian S</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Neurol</span>
|
||
2024 Oct 1;37(5):523-535.
|
||
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Facioscapulohumeral%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 (348)</a></div></div>
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<div class="portlet mgSection" id="ID_104">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln">
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<div class="nl"><a target="_blank" href="/pubmed/38124127">Effectiveness of conservative non-pharmacological interventions in people with muscular dystrophies: a systematic review and meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Leone E,
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Pandyan A,
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Rogers A,
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Hill J,
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<div class="nl"><a target="_blank" href="/pubmed/31808555">Strength training and aerobic exercise training for muscle disease.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Voet NB,
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van der Kooi EL,
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van Engelen BG,
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Geurts AC</span><br />
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<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
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<div class="nl"><a target="_blank" href="/pubmed/29102079">Early onset facioscapulohumeral dystrophy - a systematic review using individual patient data.</a></div>
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Brouwer OF,
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Padberg GW,
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|
||
<span class="bold">PMID: </span><a href="/pubmed/25532075" target="_blank">25532075</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Facioscapulohumeral%20muscular%20dystrophy%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (17)</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=C0238288%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (4)</a></li>
|
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<li><a href="/gtr/tests?term=C0238288%5bDISCUI%5d&filter=method%3A3%5F32" target="_blank">Karyotyping (1)</a></li>
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<li><a href="/gtr/tests?term=C0238288%5bDISCUI%5d&filter=method%3A2%5F15" target="_blank">Methylation analysis (2)</a></li>
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<li><a href="/gtr/tests?term=C0238288%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (3)</a></li>
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<li><a href="/gtr/tests?term=C0238288%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0238288%5bDISCUI%5d" target="_blank">See all (6)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/phenotypicSeries/PS158900" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=269" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Facioscapulohumeral%20muscular%20dystrophy" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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