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<meta name="keywords" content="C0917713, becker dystrophinopathy, becker muscular dystrophy, becker muscular dystrophy, x-linked recessive, becker's disease, becker's muscular dystrophy, benign congenital myopathy, benign pseudohypertrophic muscular dystrophy, bmd, bmd - becker muscular dystrophy, disease or syndrome, dmd, muscular dystrophy pseudohypertrophic progressive, becker type, muscular dystrophy, becker, muscular dystrophy, becker type, muscular dystrophy, becker's, muscular dystrophy, pseudohypertrophic progressive, becker type, 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="The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). The mild end of the spectrum includes the phenotypes of asymptomatic increase in serum concentration of creatine phosphokinase (CK) and muscle cramps with myoglobinuria. The severe end of the spectrum includes progressive muscle diseases that are classified as Duchenne/Becker muscular dystrophy when skeletal muscle is primarily affected and as DMD-associated DCM when the heart is primarily affected. Duchenne muscular dystrophy (DMD) usually presents in early childhood with delayed motor milestones including delays in walking independently and standing up from a supine position. Proximal weakness causes a waddling gait and difficulty climbing stairs, running, jumping, and standing up from a squatting position. DMD is rapidly progressive, with affected children being wheelchair dependent by age 12 years. Cardiomyopathy occurs in almost all individuals with DMD after age 18 years. Few survive beyond the third decade, with respiratory complications and progressive cardiomyopathy being common causes of death. Becker muscular dystrophy (BMD) is characterized by later-onset skeletal muscle weakness. With improved diagnostic techniques, it has been recognized that the mild end of the spectrum includes men with onset of symptoms after age 30 years who remain ambulatory even into their 60s. Despite the milder skeletal muscle involvement, heart failure from DCM is a common cause of morbidity and the most common cause of death in BMD. Mean age of death is in the mid-40s. DMD-associated DCM is characterized by left ventricular dilatation and congestive heart failure. Females heterozygous for a DMD pathogenic variant are at increased risk for DCM." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=182959
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ConceptID=C0917713
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Becker muscular dystrophy<span class="h1sub">(BMD)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>182959</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:">C0917713</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>BMD; MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, BECKER TYPE</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Becker muscular dystrophy (387732009); Becker's disease (387732009); BMD - Becker muscular dystrophy (387732009); Becker's muscular dystrophy (387732009)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<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>
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||
<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 jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="DMD - ID: 1756 - NCBI Gene" href="/gene/1756" class="medgenPMinfo">DMD</a> (Xp21.2-21.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0010311" target="_blank">MONDO:0010311</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/300376" target="_blank">300376</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=98895">ORPHA98895</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/NBK1119" target="_blank">Dystrophinopathies</a></div><div>The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). The mild end of the spectrum includes the phenotypes of asymptomatic increase in serum concentration of creatine phosphokinase (CK) and muscle cramps with myoglobinuria. The severe end of the spectrum includes progressive muscle diseases that are classified as Duchenne/Becker muscular dystrophy when skeletal muscle is primarily affected and as DMD-associated DCM when the heart is primarily affected. Duchenne muscular dystrophy (DMD) usually presents in early childhood with delayed motor milestones including delays in walking independently and standing up from a supine position. Proximal weakness causes a waddling gait and difficulty climbing stairs, running, jumping, and standing up from a squatting position. DMD is rapidly progressive, with affected children being wheelchair dependent by age 12 years. Cardiomyopathy occurs in almost all individuals with DMD after age 18 years. Few survive beyond the third decade, with respiratory complications and progressive cardiomyopathy being common causes of death. Becker muscular dystrophy (BMD) is characterized by later-onset skeletal muscle weakness. With improved diagnostic techniques, it has been recognized that the mild end of the spectrum includes men with onset of symptoms after age 30 years who remain ambulatory even into their 60s. Despite the milder skeletal muscle involvement, heart failure from DCM is a common cause of morbidity and the most common cause of death in BMD. Mean age of death is in the mid-40s. DMD-associated DCM is characterized by left ventricular dilatation and congestive heart failure. Females heterozygous for a DMD pathogenic variant are at increased risk for DCM. [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/NBK1119#dbmd.Summary" target="NBK1119">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1119#dbmd.GeneReview_Scope" target="NBK1119">GeneReview Scope</a> | <a class="medgenPMinfo" href="/books/NBK1119#dbmd.Diagnosis" target="NBK1119">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1119#dbmd.Clinical_Characteristics" target="NBK1119">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1119#dbmd.Genetically_Related_Allelic_Disorde" target="NBK1119">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1119#dbmd.Differential_Diagnosis" target="NBK1119">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1119#dbmd.Management" target="NBK1119">Management</a> | <a class="medgenPMinfo" href="/books/NBK1119#dbmd.Genetic_Counseling" target="NBK1119">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1119#dbmd.Resources" target="NBK1119">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1119#dbmd.Molecular_Genetics" target="NBK1119">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1119#dbmd.Chapter_Notes" target="NBK1119">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1119#dbmd.References" target="NBK1119">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Basil T Darras | David K Urion | Partha S Ghosh <a href="/books/NBK1119" target="NBK1119" title="NCBI Bookshelf: Dystrophinopathies">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 />The muscular dystrophy that carries the Becker eponym is similar to Duchenne muscular dystrophy in the distribution of muscle wasting and weakness, which is mainly proximal, but the course is more benign, with age of onset around 12 years; some patients have no symptoms until much later in life. Loss of ambulation also varies from adolescence onward, with death usually in the fourth or fifth decade. In some cases, as in Duchenne muscular dystrophy, a degree of mental impairment is present (Emery, 2002).
|
||
As in DMD, about 5 to 10% of female carriers of this X-linked disorder show muscle weakness, and frequently enlarged calves--so-called manifesting heterozygotes. Such weakness is often asymmetric; it can develop in childhood or not become evident until adult life, and can be slowly progressive or remain static. Because weakness is essentially proximal, differentiation from limb-girdle muscular dystrophy is essential for genetic counseling. In both DMD and BMD, female carriers may develop dilated cardiomyopathy in the absence of apparent weakness (Grain et al., 2001). <a target="_blank" href="http://www.omim.org/entry/300376">http://www.omim.org/entry/300376</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Both the Duchenne and Becker forms of muscular dystrophy are associated with a heart condition called cardiomyopathy. This form of heart disease weakens the cardiac muscle, preventing the heart from pumping blood efficiently. In both Duchenne and Becker muscular dystrophy, cardiomyopathy typically begins in adolescence. Later, the heart muscle becomes enlarged, and the heart problems develop into a condition known as dilated cardiomyopathy. Signs and symptoms of dilated cardiomyopathy can include an irregular heartbeat (arrhythmia), shortness of breath, extreme tiredness (fatigue), and swelling of the legs and feet. These heart problems worsen rapidly and become life-threatening in most cases. Males with Duchenne muscular dystrophy typically live into their twenties, while males with Becker muscular dystrophy can survive into their forties or beyond.<br /><br />Duchenne and Becker muscular dystrophies have similar signs and symptoms and are caused by different mutations in the same gene. The two conditions differ in their severity, age of onset, and rate of progression. In boys with Duchenne muscular dystrophy, muscle weakness tends to appear in early childhood and worsen rapidly. Affected children may have delayed motor skills, such as sitting, standing, and walking. They are usually wheelchair-dependent by adolescence. The signs and symptoms of Becker muscular dystrophy are usually milder and more varied. In most cases, muscle weakness becomes apparent later in childhood or in adolescence and worsens at a much slower rate.<br /><br />A related condition called X-linked dilated cardiomyopathy is a form of heart disease caused by mutations in the same gene as Duchenne and Becker muscular dystrophy, and it is sometimes classified as subclinical Becker muscular dystrophy. People with X-linked dilated cardiomyopathy typically do not have any skeletal muscle weakness or wasting, although they may have subtle changes in their skeletal muscle cells that are detectable through laboratory testing.<br /><br />Muscular dystrophies are a group of genetic conditions characterized by progressive muscle weakness and wasting (atrophy). The Duchenne and Becker types of muscular dystrophy are two related conditions that primarily affect skeletal muscles, which are used for movement, and heart (cardiac) muscle. These forms of muscular dystrophy occur almost exclusively in males. <a target="_blank" href="https://medlineplus.gov/genetics/condition/duchenne-and-becker-muscular-dystrophy">https://medlineplus.gov/genetics/condition/duchenne-and-becker-muscular-dystrophy</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_68541"><div><strong>Myalgia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68541</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0231528</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pain in muscle.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68541">Feature record</a> | <a href="/medgen?term=%22Myalgia%22%5BClinical%20Features%5D%20OR%2068541%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_374276"><div><strong>Calf muscle pseudohypertrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>374276</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.">C1839666</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Enlargement of the muscles of the calf due to their replacement by connective tissue or fat.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/374276">Feature record</a> | <a href="/medgen?term=%22Calf%20muscle%20pseudohypertrophy%22%5BClinical%20Features%5D%20OR%20374276%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_2039"><div><strong>Cardiac arrhythmia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2039</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.">C0003811</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2039">Feature record</a> | <a href="/medgen?term=%22Cardiac%20arrhythmia%22%5BClinical%20Features%5D%20OR%202039%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_105507"><div><strong>Abnormal EKG</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>105507</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.">C0522055</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal rhythm of the heart.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/105507">Feature record</a> | <a href="/medgen?term=%22Abnormal%20EKG%22%5BClinical%20Features%5D%20OR%20105507%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_209232"><div><strong>Cardiomyopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>209232</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.">C0878544</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/209232">Feature record</a> | <a href="/medgen?term=%22Cardiomyopathy%22%5BClinical%20Features%5D%20OR%20209232%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_195967"><div><strong>Hyporeflexia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>195967</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.">C0700078</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduction of neurologic reflexes such as the knee-jerk reaction.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/195967">Feature record</a> | <a href="/medgen?term=%22Hyporeflexia%22%5BClinical%20Features%5D%20OR%20195967%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_44527"><div><strong>Muscular dystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44527</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.">C0026850</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/44527">Feature record</a> | <a href="/medgen?term=%22Muscular%20dystrophy%22%5BClinical%20Features%5D%20OR%2044527%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57735"><div><strong>Muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57735</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0151786</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced strength of muscles.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57735">Feature record</a> | <a href="/medgen?term=%22Muscle%20weakness%22%5BClinical%20Features%5D%20OR%2057735%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_69128"><div><strong>Elevated circulating creatine kinase concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>69128</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0241005</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/69128">Feature record</a> | <a href="/medgen?term=%22Elevated%20circulating%20creatine%20kinase%20concentration%22%5BClinical%20Features%5D%20OR%2069128%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_374276" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Calf muscle pseudohypertrophy</a></span></li></ul></li><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_69128" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated circulating creatine kinase concentration</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_105507" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal EKG</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2039" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiac arrhythmia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_209232" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiomyopathy</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57735" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscle weakness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_44527" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular dystrophy</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_195967" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyporeflexia</a></span></li></ul></li><li><span class="TLline">Constitutional symptom</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68541" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myalgia</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5679787[DISCUI]&test_type=Clinical" ref="ncbi_uid=1826053">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/NBK1119/" ref="ncbi_uid=1826053">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1826053" ref="ncbi_uid=1826053">V</a></span></span><span class="TLline"><a href="/medgen/1826053" ref="tree=GTR&ncbi_uid=1826053&link_uid=1826053" title="View MedGen record for 'Qualitative or quantitative defects of dystrophin'">Qualitative or quantitative defects of dystrophin</a></span><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0917713[DISCUI]&test_type=Clinical" ref="ncbi_uid=182959">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=182959" target="_blank" href="/omim/300376">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1119/" ref="ncbi_uid=182959">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=182959" ref="ncbi_uid=182959">V</a></span></span><span class="TLline">Becker muscular dystrophy</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3668940[DISCUI]&test_type=Clinical" ref="ncbi_uid=777148">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=777148" target="_blank" href="/omim/300377">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1119/" ref="ncbi_uid=777148">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=777148" ref="ncbi_uid=777148">V</a></span></span><span class="TLline"><a href="/medgen/777148" ref="tree=GTR&ncbi_uid=777148&link_uid=777148" title="View MedGen record for 'Dilated cardiomyopathy 3B'">Dilated cardiomyopathy 3B</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=C0013264[DISCUI]&test_type=Clinical" ref="ncbi_uid=3925">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=3925" target="_blank" href="/omim/300377">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1119%20OR%20NBK1431)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=3925">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=3925" ref="ncbi_uid=3925">V</a></span></span><span class="TLline"><a href="/medgen/3925" ref="tree=GTR&ncbi_uid=3925&link_uid=3925" title="View MedGen record for 'Duchenne muscular dystrophy'">Duchenne muscular dystrophy</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/762198" ref="tree=MeSH" title="MedGen record for Duchenne and Becker muscular dystrophy">Duchenne and Becker muscular dystrophy</a></span><ul><li><span class="matched_ds">Becker muscular dystrophy</span></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=13912&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Becker muscular dystrophy</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37422773">Diagnosis and management of Becker muscular dystrophy: the French guidelines.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Magot A,
|
||
Wahbi K,
|
||
Leturcq F,
|
||
Jaffre S,
|
||
Péréon Y,
|
||
Sole G;
|
||
French BMD working group</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2023 Oct;270(10):4763-4781.
|
||
Epub 2023 Jul 9
|
||
doi: 10.1007/s00415-023-11837-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37422773" target="_blank">37422773</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/29467387">Clinical Utility Gene Card for: Becker muscular dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Coote D,
|
||
Davis MR,
|
||
Cabrera M,
|
||
Needham M,
|
||
Laing NG,
|
||
Nowak KJ</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2018 Jul;26(7):1065-1071.
|
||
Epub 2018 Feb 21
|
||
doi: 10.1038/s41431-017-0064-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29467387" target="_blank">29467387</a><a href="/pmc/articles/PMC6018697" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22becker%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 (85)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3><h3 class="nl vspace"><a href="https://www.acmg.net/PDFLibrary/DMD-Elevated-CKMM-Algorithm.pdf" target="_blank">American College of Medical Genetics and Genomics, Algorithm, ELEVATED CREATINEKINASE(CK)-MM , Genetic Neuromuscular Disorders, 2022</a></h3>
|
||
<h3 class="nl vspace"><a href="https://www.acmg.net/PDFLibrary/DMD_CKMM.pdf" target="_blank">American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated creatine kinase muscle isoform (CKMM), Genetic Neuromuscular Disease, 2020</a></h3>
|
||
<h3 class="nl vspace"><a href="https://www.acmg.net/PDFLibrary/DMD_No_Pathogenic_Variant.pdf" target="_blank">American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, No Pathogenic Variant in Dystrophin (DMD) Gene after elevated creatine kinase muscle isoform (CK-MM), Genetic Neuromuscular Disease, 2020</a></h3>
|
||
<h3 class="nl vspace"><a href="https://www.acmg.net/PDFLibrary/DMD_Pathogenic_Variants.pdf" target="_blank">American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Pathogenic Variant in Dystrophin (DMD Gene) and elevated creatine kinase muscle isoform (CK-MM), Duchenne and Becker Muscular Dystrophy, 2019</a></h3>
|
||
<h3 class="nl vspace"><a href="https://www.acmg.net/PDFLibrary/Duchenne-Becker-Muscular-Dystrophy.pdf" target="_blank">American College of Medical Genetics &amp; Genomics Genetic Testing ACT Sheet, Duchenne and Becker Muscular Dystrophy, 2012</a></h3>
|
||
</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/37882106">Natural history of Becker muscular dystrophy: a multicenter study of 225 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nakamura A,
|
||
Matsumura T,
|
||
Ogata K,
|
||
Mori-Yoshimura M,
|
||
Takeshita E,
|
||
Kimura K,
|
||
Kawashima T,
|
||
Tomo Y,
|
||
Arahata H,
|
||
Miyazaki D,
|
||
Takeshima Y,
|
||
Takahashi T,
|
||
Ishigaki K,
|
||
Kuru S,
|
||
Wakisaka A,
|
||
Awano H,
|
||
Funato M,
|
||
Sato T,
|
||
Saito Y,
|
||
Takada H,
|
||
Sugie K,
|
||
Kobayashi M,
|
||
Ozasa S,
|
||
Fujii T,
|
||
Maegaki Y,
|
||
Oi H,
|
||
Tachimori H,
|
||
Komaki H</span><br />
|
||
<span class="medgenPMjournal">Ann Clin Transl Neurol</span>
|
||
2023 Dec;10(12):2360-2372.
|
||
Epub 2023 Oct 26
|
||
doi: 10.1002/acn3.51925.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37882106" target="_blank">37882106</a><a href="/pmc/articles/PMC10723226" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37422773">Diagnosis and management of Becker muscular dystrophy: the French guidelines.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Magot A,
|
||
Wahbi K,
|
||
Leturcq F,
|
||
Jaffre S,
|
||
Péréon Y,
|
||
Sole G;
|
||
French BMD working group</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2023 Oct;270(10):4763-4781.
|
||
Epub 2023 Jul 9
|
||
doi: 10.1007/s00415-023-11837-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37422773" target="_blank">37422773</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34602496">A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Megarbane A,
|
||
Bizzari S,
|
||
Deepthi A,
|
||
Sabbagh S,
|
||
Mansour H,
|
||
Chouery E,
|
||
Hmaimess G,
|
||
Jabbour R,
|
||
Mehawej C,
|
||
Alame S,
|
||
Hani A,
|
||
Hasbini D,
|
||
Ghanem I,
|
||
Koussa S,
|
||
Al-Ali MT,
|
||
Obeid M,
|
||
Talea DB,
|
||
Lefranc G,
|
||
Lévy N,
|
||
Leturcq F,
|
||
El Hayek S,
|
||
Delague V,
|
||
Urtizberea JA</span><br />
|
||
<span class="medgenPMjournal">J Neuromuscul Dis</span>
|
||
2022;9(1):193-210.
|
||
doi: 10.3233/JND-210652.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34602496" target="_blank">34602496</a><a href="/pmc/articles/PMC8842757" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34736624">The DMD gene and therapeutic approaches to restore dystrophin.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fortunato F,
|
||
Farnè M,
|
||
Ferlini A</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2021 Oct;31(10):1013-1020.
|
||
doi: 10.1016/j.nmd.2021.08.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34736624" target="_blank">34736624</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27230049">Dystrophin-Deficient Cardiomyopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kamdar F,
|
||
Garry DJ</span><br />
|
||
<span class="medgenPMjournal">J Am Coll Cardiol</span>
|
||
2016 May 31;67(21):2533-46.
|
||
doi: 10.1016/j.jacc.2016.02.081.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27230049" target="_blank">27230049</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Becker%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 (437)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37759719">Advances in Dystrophinopathy Diagnosis and Therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Saad FA,
|
||
Siciliano G,
|
||
Angelini C</span><br />
|
||
<span class="medgenPMjournal">Biomolecules</span>
|
||
2023 Aug 28;13(9)
|
||
doi: 10.3390/biom13091319.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37759719" target="_blank">37759719</a><a href="/pmc/articles/PMC10526396" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37591308">An update on Becker muscular dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Straub V,
|
||
Guglieri M</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Neurol</span>
|
||
2023 Oct 1;36(5):450-454.
|
||
Epub 2023 Aug 21
|
||
doi: 10.1097/WCO.0000000000001191.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37591308" target="_blank">37591308</a><a href="/pmc/articles/PMC10487383" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37422773">Diagnosis and management of Becker muscular dystrophy: the French guidelines.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Magot A,
|
||
Wahbi K,
|
||
Leturcq F,
|
||
Jaffre S,
|
||
Péréon Y,
|
||
Sole G;
|
||
French BMD working group</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2023 Oct;270(10):4763-4781.
|
||
Epub 2023 Jul 9
|
||
doi: 10.1007/s00415-023-11837-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37422773" target="_blank">37422773</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26754139">The importance of genetic diagnosis for Duchenne muscular dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aartsma-Rus A,
|
||
Ginjaar IB,
|
||
Bushby K</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2016 Mar;53(3):145-51.
|
||
Epub 2016 Jan 11
|
||
doi: 10.1136/jmedgenet-2015-103387.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26754139" target="_blank">26754139</a><a href="/pmc/articles/PMC4789806" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25037084">Duchenne and Becker muscular dystrophies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Flanigan KM</span><br />
|
||
<span class="medgenPMjournal">Neurol Clin</span>
|
||
2014 Aug;32(3):671-88, viii.
|
||
doi: 10.1016/j.ncl.2014.05.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25037084" target="_blank">25037084</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Becker%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 (646)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37759719">Advances in Dystrophinopathy Diagnosis and Therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Saad FA,
|
||
Siciliano G,
|
||
Angelini C</span><br />
|
||
<span class="medgenPMjournal">Biomolecules</span>
|
||
2023 Aug 28;13(9)
|
||
doi: 10.3390/biom13091319.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37759719" target="_blank">37759719</a><a href="/pmc/articles/PMC10526396" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37591308">An update on Becker muscular dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Straub V,
|
||
Guglieri M</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Neurol</span>
|
||
2023 Oct 1;36(5):450-454.
|
||
Epub 2023 Aug 21
|
||
doi: 10.1097/WCO.0000000000001191.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37591308" target="_blank">37591308</a><a href="/pmc/articles/PMC10487383" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31487757">Respiratory muscle training in children and adults with neuromuscular disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Silva IS,
|
||
Pedrosa R,
|
||
Azevedo IG,
|
||
Forbes AM,
|
||
Fregonezi GA,
|
||
Dourado Junior ME,
|
||
Lima SR,
|
||
Ferreira GM</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2019 Sep 5;9(9):CD011711.
|
||
doi: 10.1002/14651858.CD011711.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31487757" target="_blank">31487757</a><a href="/pmc/articles/PMC6953358" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30093306">Systemic AAV Micro-dystrophin Gene Therapy for Duchenne Muscular Dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Duan D</span><br />
|
||
<span class="medgenPMjournal">Mol Ther</span>
|
||
2018 Oct 3;26(10):2337-2356.
|
||
Epub 2018 Jul 17
|
||
doi: 10.1016/j.ymthe.2018.07.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30093306" target="_blank">30093306</a><a href="/pmc/articles/PMC6171037" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27230049">Dystrophin-Deficient Cardiomyopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kamdar F,
|
||
Garry DJ</span><br />
|
||
<span class="medgenPMjournal">J Am Coll Cardiol</span>
|
||
2016 May 31;67(21):2533-46.
|
||
doi: 10.1016/j.jacc.2016.02.081.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27230049" target="_blank">27230049</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Becker%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 (206)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37882106">Natural history of Becker muscular dystrophy: a multicenter study of 225 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nakamura A,
|
||
Matsumura T,
|
||
Ogata K,
|
||
Mori-Yoshimura M,
|
||
Takeshita E,
|
||
Kimura K,
|
||
Kawashima T,
|
||
Tomo Y,
|
||
Arahata H,
|
||
Miyazaki D,
|
||
Takeshima Y,
|
||
Takahashi T,
|
||
Ishigaki K,
|
||
Kuru S,
|
||
Wakisaka A,
|
||
Awano H,
|
||
Funato M,
|
||
Sato T,
|
||
Saito Y,
|
||
Takada H,
|
||
Sugie K,
|
||
Kobayashi M,
|
||
Ozasa S,
|
||
Fujii T,
|
||
Maegaki Y,
|
||
Oi H,
|
||
Tachimori H,
|
||
Komaki H</span><br />
|
||
<span class="medgenPMjournal">Ann Clin Transl Neurol</span>
|
||
2023 Dec;10(12):2360-2372.
|
||
Epub 2023 Oct 26
|
||
doi: 10.1002/acn3.51925.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37882106" target="_blank">37882106</a><a href="/pmc/articles/PMC10723226" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37422773">Diagnosis and management of Becker muscular dystrophy: the French guidelines.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Magot A,
|
||
Wahbi K,
|
||
Leturcq F,
|
||
Jaffre S,
|
||
Péréon Y,
|
||
Sole G;
|
||
French BMD working group</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2023 Oct;270(10):4763-4781.
|
||
Epub 2023 Jul 9
|
||
doi: 10.1007/s00415-023-11837-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37422773" target="_blank">37422773</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35168641">Global prevalence of Duchenne and Becker muscular dystrophy: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Salari N,
|
||
Fatahi B,
|
||
Valipour E,
|
||
Kazeminia M,
|
||
Fatahian R,
|
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Kiaei A,
|
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Shohaimi S,
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Mohammadi M</span><br />
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<span class="medgenPMjournal">J Orthop Surg Res</span>
|
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2022 Feb 15;17(1):96.
|
||
doi: 10.1186/s13018-022-02996-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35168641" target="_blank">35168641</a><a href="/pmc/articles/PMC8848641" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31487757">Respiratory muscle training in children and adults with neuromuscular disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Silva IS,
|
||
Pedrosa R,
|
||
Azevedo IG,
|
||
Forbes AM,
|
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Fregonezi GA,
|
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Dourado Junior ME,
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Lima SR,
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Ferreira GM</span><br />
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<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
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2019 Sep 5;9(9):CD011711.
|
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doi: 10.1002/14651858.CD011711.pub2.
|
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<span class="bold">PMID: </span><a href="/pubmed/31487757" target="_blank">31487757</a><a href="/pmc/articles/PMC6953358" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19937601">Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Flanigan KM,
|
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Dunn DM,
|
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von Niederhausern A,
|
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Soltanzadeh P,
|
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Gappmaier E,
|
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Howard MT,
|
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Sampson JB,
|
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Mendell JR,
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Wall C,
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King WM,
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Pestronk A,
|
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Florence JM,
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Connolly AM,
|
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Mathews KD,
|
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Stephan CM,
|
||
Laubenthal KS,
|
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Wong BL,
|
||
Morehart PJ,
|
||
Meyer A,
|
||
Finkel RS,
|
||
Bonnemann CG,
|
||
Medne L,
|
||
Day JW,
|
||
Dalton JC,
|
||
Margolis MK,
|
||
Hinton VJ;
|
||
United Dystrophinopathy Project Consortium,
|
||
Weiss RB</span><br />
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||
<span class="medgenPMjournal">Hum Mutat</span>
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2009 Dec;30(12):1657-66.
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doi: 10.1002/humu.21114.
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<span class="bold">PMID: </span><a href="/pubmed/19937601" target="_blank">19937601</a><a href="/pmc/articles/PMC3404892" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Becker%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 (267)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37882106">Natural history of Becker muscular dystrophy: a multicenter study of 225 patients.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Nakamura A,
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Matsumura T,
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Ogata K,
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Mori-Yoshimura M,
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Takeshita E,
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Kimura K,
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Kawashima T,
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Tomo Y,
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Arahata H,
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Miyazaki D,
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Takeshima Y,
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Takahashi T,
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Ishigaki K,
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Kuru S,
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Wakisaka A,
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Awano H,
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Funato M,
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||
Sato T,
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Saito Y,
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||
Takada H,
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Sugie K,
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Kobayashi M,
|
||
Ozasa S,
|
||
Fujii T,
|
||
Maegaki Y,
|
||
Oi H,
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||
Tachimori H,
|
||
Komaki H</span><br />
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<span class="medgenPMjournal">Ann Clin Transl Neurol</span>
|
||
2023 Dec;10(12):2360-2372.
|
||
Epub 2023 Oct 26
|
||
doi: 10.1002/acn3.51925.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37882106" target="_blank">37882106</a><a href="/pmc/articles/PMC10723226" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35168641">Global prevalence of Duchenne and Becker muscular dystrophy: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Salari N,
|
||
Fatahi B,
|
||
Valipour E,
|
||
Kazeminia M,
|
||
Fatahian R,
|
||
Kiaei A,
|
||
Shohaimi S,
|
||
Mohammadi M</span><br />
|
||
<span class="medgenPMjournal">J Orthop Surg Res</span>
|
||
2022 Feb 15;17(1):96.
|
||
doi: 10.1186/s13018-022-02996-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35168641" target="_blank">35168641</a><a href="/pmc/articles/PMC8848641" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31487757">Respiratory muscle training in children and adults with neuromuscular disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Silva IS,
|
||
Pedrosa R,
|
||
Azevedo IG,
|
||
Forbes AM,
|
||
Fregonezi GA,
|
||
Dourado Junior ME,
|
||
Lima SR,
|
||
Ferreira GM</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2019 Sep 5;9(9):CD011711.
|
||
doi: 10.1002/14651858.CD011711.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31487757" target="_blank">31487757</a><a href="/pmc/articles/PMC6953358" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19937601">Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Flanigan KM,
|
||
Dunn DM,
|
||
von Niederhausern A,
|
||
Soltanzadeh P,
|
||
Gappmaier E,
|
||
Howard MT,
|
||
Sampson JB,
|
||
Mendell JR,
|
||
Wall C,
|
||
King WM,
|
||
Pestronk A,
|
||
Florence JM,
|
||
Connolly AM,
|
||
Mathews KD,
|
||
Stephan CM,
|
||
Laubenthal KS,
|
||
Wong BL,
|
||
Morehart PJ,
|
||
Meyer A,
|
||
Finkel RS,
|
||
Bonnemann CG,
|
||
Medne L,
|
||
Day JW,
|
||
Dalton JC,
|
||
Margolis MK,
|
||
Hinton VJ;
|
||
United Dystrophinopathy Project Consortium,
|
||
Weiss RB</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2009 Dec;30(12):1657-66.
|
||
doi: 10.1002/humu.21114.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19937601" target="_blank">19937601</a><a href="/pmc/articles/PMC3404892" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17259292">Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Taylor PJ,
|
||
Maroulis S,
|
||
Mullan GL,
|
||
Pedersen RL,
|
||
Baumli A,
|
||
Elakis G,
|
||
Piras S,
|
||
Walsh C,
|
||
Prósper-Gutiérrez B,
|
||
De La Puente-Alonso F,
|
||
Bell CG,
|
||
Mowat DR,
|
||
Johnston HM,
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||
Buckley MF</span><br />
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||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2007 Jun;44(6):368-72.
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||
Epub 2007 Jan 26
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||
doi: 10.1136/jmg.2006.047464.
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||
<span class="bold">PMID: </span><a href="/pubmed/17259292" target="_blank">17259292</a><a href="/pmc/articles/PMC2740880" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Becker%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 (376)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/38997055">Electrophysiologic and cardiovascular manifestations of Duchenne and Becker muscular dystrophies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hakimi M,
|
||
Burnham T,
|
||
Ramsay J,
|
||
Cheung JW,
|
||
Goyal NA,
|
||
Jefferies JL,
|
||
Donaldson D</span><br />
|
||
<span class="medgenPMjournal">Heart Rhythm</span>
|
||
2025 Jan;22(1):192-202.
|
||
Epub 2024 Jul 10
|
||
doi: 10.1016/j.hrthm.2024.07.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38997055" target="_blank">38997055</a></div>
|
||
|
||
<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>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Leone E,
|
||
Pandyan A,
|
||
Rogers A,
|
||
Kulshrestha R,
|
||
Hill J,
|
||
Philp F</span><br />
|
||
<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
|
||
2024 Apr 12;95(5):442-453.
|
||
doi: 10.1136/jnnp-2023-331988.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38124127" target="_blank">38124127</a><a href="/pmc/articles/PMC11041561" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35168641">Global prevalence of Duchenne and Becker muscular dystrophy: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Salari N,
|
||
Fatahi B,
|
||
Valipour E,
|
||
Kazeminia M,
|
||
Fatahian R,
|
||
Kiaei A,
|
||
Shohaimi S,
|
||
Mohammadi M</span><br />
|
||
<span class="medgenPMjournal">J Orthop Surg Res</span>
|
||
2022 Feb 15;17(1):96.
|
||
doi: 10.1186/s13018-022-02996-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35168641" target="_blank">35168641</a><a href="/pmc/articles/PMC8848641" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31487757">Respiratory muscle training in children and adults with neuromuscular disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Silva IS,
|
||
Pedrosa R,
|
||
Azevedo IG,
|
||
Forbes AM,
|
||
Fregonezi GA,
|
||
Dourado Junior ME,
|
||
Lima SR,
|
||
Ferreira GM</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2019 Sep 5;9(9):CD011711.
|
||
doi: 10.1002/14651858.CD011711.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31487757" target="_blank">31487757</a><a href="/pmc/articles/PMC6953358" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24780148">A systematic review and meta-analysis on the epidemiology of Duchenne and Becker muscular dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mah JK,
|
||
Korngut L,
|
||
Dykeman J,
|
||
Day L,
|
||
Pringsheim T,
|
||
Jette N</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2014 Jun;24(6):482-91.
|
||
Epub 2014 Mar 22
|
||
doi: 10.1016/j.nmd.2014.03.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24780148" target="_blank">24780148</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Becker%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>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
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|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0917713%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (89)</a></li>
|
||
<li><a href="/gtr/tests?term=C0917713%5bDISCUI%5d&filter=method%3A1%5F2" target="_blank">Enzyme assay (10)</a></li>
|
||
<li><a href="/gtr/tests?term=C0917713%5bDISCUI%5d&filter=method%3A2%5F13" target="_blank">Linkage analysis (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0917713%5bDISCUI%5d&filter=method%3A2%5F12" target="_blank">Microsatellite instability testing (MSI) (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0917713%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (6)</a></li>
|
||
<li><a href="/gtr/tests?term=C0917713%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C0917713%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (21)</a></li>
|
||
<li><a href="/gtr/tests?term=C0917713%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (119)</a></li>
|
||
<li><a href="/gtr/tests?term=C0917713%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (27)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0917713%5bDISCUI%5d" target="_blank">See all (159)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=300376" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=98895" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Becker%20muscular%20dystrophy" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22becker%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">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Becker%20muscular%20dystrophy%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="https://www.acmg.net/PDFLibrary/DMD-Elevated-CKMM-Algorithm.pdf">ACMG Algorithm, 2022</a><div>American College of Medical Genetics and Genomics, Algorithm, ELEVATED CREATINEKINASE(CK)-MM , Genetic Neuromuscular Disorders, 2022</div></li><li><a target="_blank" href="https://www.acmg.net/PDFLibrary/DMD_CKMM.pdf">ACMG ACT, 2020</a><div>American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated creatine kinase muscle isoform (CKMM), Genetic Neuromuscular Disease, 2020</div></li><li><a target="_blank" href="https://www.acmg.net/PDFLibrary/DMD_No_Pathogenic_Variant.pdf">ACMG ACT, 2020</a><div>American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, No Pathogenic Variant in Dystrophin (DMD) Gene after elevated creatine kinase muscle isoform (CK-MM), Genetic Neuromuscular Disease, 2020</div></li><li><a target="_blank" href="https://www.acmg.net/PDFLibrary/DMD_Pathogenic_Variants.pdf">ACMG ACT, 2019</a><div>American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Pathogenic Variant in Dystrophin (DMD Gene) and elevated creatine kinase muscle isoform (CK-MM), Duchenne and Becker Muscular Dystrophy, 2019</div></li><li><a target="_blank" href="https://www.acmg.net/PDFLibrary/Duchenne-Becker-Muscular-Dystrophy.pdf">ACMG ACT, 2012</a><div>American College of Medical Genetics &amp; Genomics Genetic Testing ACT Sheet, Duchenne and Becker Muscular Dystrophy, 2012</div></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=300377" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=1756[geneid]" target="_blank">View DMD variations in ClinVar</a></li><li><a href="/nuccore/256355061" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=300376" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
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||
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/muscular_dystrophy_becker_type" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Becker%20muscular%20dystrophy" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/duchenne-and-becker-muscular-dystrophy" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/5900/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
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|
||
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||
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|
||
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|
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<h3>Related information</h3>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0917713[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
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<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
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|
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=182959" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
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<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
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<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=182959" ref="log$=recordlinks">PubMed (OMIM)</a>
|
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
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|
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cbeb3784f3725e59fac0e9">Becker muscular dystrophy</a>
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