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<meta name="keywords" content="C0270952, disease or syndrome, dystrophies, oculopharyngeal muscular, dystrophy, oculopharyngeal muscular, muscular dystrophies, oculopharyngeal, muscular dystrophy, oculopharyngeal, oculopharyngeal dystrophy, oculopharyngeal muscular dystrophies, oculopharyngeal muscular dystrophy, oculopharyngeal muscular dystrophy 1, opmd, opmd1, progressive muscular dystrophy, oculopharyngeal 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="Oculopharyngeal muscular dystrophy (OPMD) is characterized by ptosis and dysphagia due to selective involvement of the muscles of the eyelids and pharynx, respectively. For the vast majority of individuals with typical OPMD, the mean age of onset of ptosis is usually 48 years and of dysphagia 50 years; in 5%-10% of individuals with severe OPMD, onset of ptosis and dysphagia occur before age 45 years and is associated with lower limb girdle weakness starting around age 60 years. Swallowing difficulties, which determine prognosis, increase the risk for potentially life-threatening aspiration pneumonia and poor nutrition. Other manifestations as the disease progresses can include limitation of upward gaze, tongue atrophy and weakness, chewing difficulties, wet voice, facial muscle weakness, axial muscle weakness, and proximal limb girdle weakness predominantly in lower limbs. Some individuals with severe involvement will eventually need a wheelchair. Neuropsychological tests have shown altered scores in executive functions in some." /><meta name="robots" content="index,nofollow,noarchive" />
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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=75730
|
||
ConceptID=C0270952
|
||
-->
|
||
<!--imgCountBooks = 1--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Image</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1126/bin/opmd-Image001.gif" src-large="/books/NBK1126/bin/opmd-Image001.jpg" /></a><br /><a href="/books/NBK1126/figure/opmd.F1/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Oculopharyngeal muscular dystrophy<span class="h1sub">(OPMD1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75730</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:">C0270952</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>Dystrophies, Oculopharyngeal Muscular; Dystrophy, Oculopharyngeal Muscular; Muscular Dystrophies, Oculopharyngeal; Muscular Dystrophy, Oculopharyngeal; Oculopharyngeal Dystrophy; Oculopharyngeal Muscular Dystrophies; Oculopharyngeal Muscular Dystrophy; Progressive Muscular Dystrophy, Oculopharyngeal Type</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Oculopharyngeal muscular dystrophy (77097004); Oculopharyngeal dystrophy (77097004)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/8106">PABPN1</a>, <a target="_blank" href="/gene/3181">HNRNPA2B1</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0008116" target="_blank">MONDO:0008116</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/164300" target="_blank">164300</a>; <a href="https://omim.org/entry/602279" target="_blank">602279</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS164300" target="_blank">PS164300</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=270">ORPHA270</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/NBK1126" target="_blank">Oculopharyngeal Muscular Dystrophy</a></div><div>Oculopharyngeal muscular dystrophy (OPMD) is characterized by ptosis and dysphagia due to selective involvement of the muscles of the eyelids and pharynx, respectively. For the vast majority of individuals with typical OPMD, the mean age of onset of ptosis is usually 48 years and of dysphagia 50 years; in 5%-10% of individuals with severe OPMD, onset of ptosis and dysphagia occur before age 45 years and is associated with lower limb girdle weakness starting around age 60 years. Swallowing difficulties, which determine prognosis, increase the risk for potentially life-threatening aspiration pneumonia and poor nutrition. Other manifestations as the disease progresses can include limitation of upward gaze, tongue atrophy and weakness, chewing difficulties, wet voice, facial muscle weakness, axial muscle weakness, and proximal limb girdle weakness predominantly in lower limbs. Some individuals with severe involvement will eventually need a wheelchair. Neuropsychological tests have shown altered scores in executive functions in some. [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/NBK1126#opmd.Summary" target="NBK1126">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1126#opmd.Diagnosis" target="NBK1126">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1126#opmd.Clinical_Characteristics" target="NBK1126">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1126#opmd.Genetically_Related_Allelic_Disorde" target="NBK1126">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1126#opmd.Differential_Diagnosis" target="NBK1126">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1126#opmd.Management" target="NBK1126">Management</a> | <a class="medgenPMinfo" href="/books/NBK1126#opmd.Genetic_Counseling" target="NBK1126">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1126#opmd.Resources" target="NBK1126">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1126#opmd.Molecular_Genetics" target="NBK1126">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1126#opmd.Chapter_Notes" target="NBK1126">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1126#opmd.References" target="NBK1126">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Capucine Trollet | Alexis Boulinguiez | Fanny Roth<i>, et. al.</i> <a href="/books/NBK1126" target="NBK1126" title="NCBI Bookshelf: Oculopharyngeal 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_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Oculopharyngeal muscular dystrophy is a genetic condition characterized by muscle weakness that begins in adulthood, typically after age 40. The term "oculopharyngeal" refers to the eyes (oculo-) and a part of the throat called the pharynx (-pharyngeal). Affected individuals usually first experience weakness of the muscles in both eyelids that causes droopy eyelids (ptosis). Ptosis can worsen over time, causing the eyelid to impair vision, and in some cases, limit eye movement. Along with ptosis, affected individuals develop weakness of the throat muscles that causes difficulty swallowing (dysphagia). Dysphagia begins with dry food, but over time, liquids can also become difficult to swallow. Dysphagia can cause saliva to accumulate and a wet-sounding voice. Many people with oculopharyngeal muscular dystrophy also have weakness and wasting (atrophy) of the tongue. These problems with food intake may cause malnutrition, choking, or a bacterial lung infection called aspiration pneumonia.<br /><br />Individuals with oculopharyngeal muscular dystrophy frequently have weakness in the muscles near the center of the body (proximal muscles), particularly muscles in the shoulders, upper legs, and hips (limb-girdle muscles). The weakness slowly gets worse, and people may need the aid of a cane or a walker. Rarely, affected individuals need wheelchair assistance.<br /><br />Rarely, individuals have a severe form of oculopharyngeal muscular dystrophy with muscle weakness that begins before age 45, and have trouble walking independently by age 60. These individuals often also have disturbances in nerve function (neuropathy), a gradual loss of intellectual functioning (cognitive decline), and psychiatric symptoms such as depression or strongly held false beliefs (delusions). <a target="_blank" href="https://medlineplus.gov/genetics/condition/oculopharyngeal-muscular-dystrophy">https://medlineplus.gov/genetics/condition/oculopharyngeal-muscular-dystrophy</a></div></div>
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</div>
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<div class="portlet mgSection" id="ID_102">
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<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>
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<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
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<div class="divPopper rprt" id="clin_107956"><div><strong>Limb muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107956</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.">C0587246</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Reduced strength and weakness of the muscles of the arms and legs.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/107956">Feature record</a> | <a href="/medgen?term=%22Limb%20muscle%20weakness%22%5BClinical%20Features%5D%20OR%20107956%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_41440"><div><strong>Dysphagia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41440</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.">C0011168</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Difficulty in swallowing.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/41440">Feature record</a> | <a href="/medgen?term=%22Dysphagia%22%5BClinical%20Features%5D%20OR%2041440%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_8510"><div><strong>Dysarthria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8510</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.">C0013362</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
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<div class="spaceAbove">Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/8510">Feature record</a> | <a href="/medgen?term=%22Dysarthria%22%5BClinical%20Features%5D%20OR%208510%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_107895"><div><strong>Gait disturbance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107895</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.">C0575081</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">The term gait disturbance can refer to any disruption of the ability to walk.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/107895">Feature record</a> | <a href="/medgen?term=%22Gait%20disturbance%22%5BClinical%20Features%5D%20OR%20107895%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_113169"><div><strong>Proximal muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>113169</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.">C0221629</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">A lack of strength of the proximal muscles.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/113169">Feature record</a> | <a href="/medgen?term=%22Proximal%20muscle%20weakness%22%5BClinical%20Features%5D%20OR%20113169%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_66808"><div><strong>Neck muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66808</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.">C0240479</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Decreased strength of the neck musculature.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/66808">Feature record</a> | <a href="/medgen?term=%22Neck%20muscle%20weakness%22%5BClinical%20Features%5D%20OR%2066808%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_87660"><div><strong>Facial palsy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87660</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.">C0376175</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/87660">Feature record</a> | <a href="/medgen?term=%22Facial%20palsy%22%5BClinical%20Features%5D%20OR%2087660%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_140883"><div><strong>Distal muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140883</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.">C0427065</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Reduced strength of the musculature of the distal extremities.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/140883">Feature record</a> | <a href="/medgen?term=%22Distal%20muscle%20weakness%22%5BClinical%20Features%5D%20OR%20140883%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_477048"><div><strong>Ragged-red muscle fibers</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>477048</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.">C3275417</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged. The ragged-red is due to the accumulation of abnormal mitochondria below the plasma membrane of the muscle fiber, leading to the appearance of a red rim and speckled sarcoplasm.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/477048">Feature record</a> | <a href="/medgen?term=%22Ragged-red%20muscle%20fibers%22%5BClinical%20Features%5D%20OR%20477048%5Buid%5D">Search on this feature</a></div></div>
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<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>
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<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>
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<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>
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<div class="divPopper rprt" id="clin_99115"><div><strong>Hypernasal speech</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>99115</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.">C0454555</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">A type of speech characterized by the presence of an abnormally increased nasal airflow during speech associated with structural abnormality of the nasal passages.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/99115">Feature record</a> | <a href="/medgen?term=%22Hypernasal%20speech%22%5BClinical%20Features%5D%20OR%2099115%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_140860"><div><strong>Mask-like facies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140860</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.">C0424448</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">A lack of facial expression often with staring eyes and a slightly open mouth.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/140860">Feature record</a> | <a href="/medgen?term=%22Mask-like%20facies%22%5BClinical%20Features%5D%20OR%20140860%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_2287"><div><strong>Ptosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2287</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.">C0005745</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/2287">Feature record</a> | <a href="/medgen?term=%22Ptosis%22%5BClinical%20Features%5D%20OR%202287%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_320251"><div><strong>Progressive ptosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>320251</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.">C1834015</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">A progressive form of ptosis.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/320251">Feature record</a> | <a href="/medgen?term=%22Progressive%20ptosis%22%5BClinical%20Features%5D%20OR%20320251%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 head or neck</span><ul><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_140860" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mask-like facies</a></span></li></ul></li><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107956" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Limb muscle weakness</a></span></li></ul></li><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
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<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 digestive system</span><ul><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_41440" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysphagia</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_320251" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive ptosis</a></span></li><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2287" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ptosis</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_140883" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Distal muscle weakness</a></span></li><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_87660" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Facial palsy</a></span></li><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66808" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neck muscle weakness</a></span></li><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_113169" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Proximal muscle weakness</a></span></li><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_477048" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ragged-red muscle fibers</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8510" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysarthria</a></span></li><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107895" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gait disturbance</a></span></li></ul></li><li><span class="TLline">Abnormality of the voice</span><ul><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_99115" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypernasal speech</a></span></li></ul></li></ul></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=C0270952[DISCUI]&test_type=Clinical" ref="ncbi_uid=75730">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=75730" target="_blank" href="/omim/164300">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1126/" ref="ncbi_uid=75730">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=75730" ref="ncbi_uid=75730">V</a></span></span><span class="TLline">Oculopharyngeal muscular dystrophy</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN376802[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=1054618">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/NBK1126/" ref="ncbi_uid=1054618">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1054618" ref="ncbi_uid=1054618">V</a></span></span><span class="TLline"><a href="/medgen/1054618" ref="tree=GTR&ncbi_uid=1054618&link_uid=1054618" title="View MedGen record for 'Oculopharyngeal muscular dystrophy 1'">Oculopharyngeal muscular dystrophy 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1841318" target="_blank" href="/omim/600124">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1841318" ref="ncbi_uid=1841318">V</a></span></span><span class="TLline"><a href="/medgen/1841318" ref="tree=GTR&ncbi_uid=1841318&link_uid=1841318" title="View MedGen record for 'Oculopharyngeal muscular dystrophy 2'">Oculopharyngeal muscular dystrophy 2</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/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">Oculopharyngeal muscular dystrophy</span><ul><li><span class="TLline"><a href="/medgen/1054618" ref="tree=MeSH" title="MedGen record for Oculopharyngeal muscular dystrophy 1">Oculopharyngeal muscular dystrophy 1</a></span></li><li><span class="TLline"><a href="/medgen/1841318" ref="tree=MeSH" title="MedGen record for Oculopharyngeal muscular dystrophy 2">Oculopharyngeal muscular dystrophy 2</a></span></li></ul></li></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=664&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Oculopharyngeal 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/36178005">A review of surgical management of progressive myogenic ptosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Park RB,
|
||
Akella SS,
|
||
Aakalu VK</span><br />
|
||
<span class="medgenPMjournal">Orbit</span>
|
||
2023 Feb;42(1):11-24.
|
||
Epub 2022 Sep 30
|
||
doi: 10.1080/01676830.2022.2122514.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36178005" target="_blank">36178005</a><a href="/pmc/articles/PMC10329817" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34133031">Guidelines for genetic testing of muscle and neuromuscular junction disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nicolau S,
|
||
Milone M,
|
||
Liewluck T</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2021 Sep;64(3):255-269.
|
||
Epub 2021 Jun 16
|
||
doi: 10.1002/mus.27337.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34133031" target="_blank">34133031</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23848287">Delayed diagnosis of oculopharyngeal muscular dystrophy in Denmark: from initial ptosis to genetic testing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mensah A,
|
||
Witting N,
|
||
Duno M,
|
||
Milea D,
|
||
Vissing J</span><br />
|
||
<span class="medgenPMjournal">Acta Ophthalmol</span>
|
||
2014 May;92(3):e247-9.
|
||
Epub 2013 Jul 15
|
||
doi: 10.1111/aos.12243.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23848287" target="_blank">23848287</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22oculopharyngeal%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 (12)</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/38809679">Ocular manifestations and outcomes of OPMD- a report from the national IsrOPMD registry.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mekiten O,
|
||
Zvulunov A,
|
||
Ben Simon G,
|
||
Charas H,
|
||
Ben-David M,
|
||
Shelly S,
|
||
Greenbaum L,
|
||
Dori A,
|
||
Benyamini L,
|
||
Zur D,
|
||
Levi N,
|
||
Landau Prat D,
|
||
Zloto O</span><br />
|
||
<span class="medgenPMjournal">Eur J Ophthalmol</span>
|
||
2025 Mar;35(2):451-455.
|
||
Epub 2024 May 29
|
||
doi: 10.1177/11206721241259145.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38809679" target="_blank">38809679</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/39503119">A Review of Muscular Dystrophies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hoang T,
|
||
Dowdy RAE</span><br />
|
||
<span class="medgenPMjournal">Anesth Prog</span>
|
||
2024 May 3;71(1):44-52.
|
||
doi: 10.2344/673191.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39503119" target="_blank">39503119</a><a href="/pmc/articles/PMC11101287" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25283883">Oculopharyngeal muscular dystrophy: phenotypic and genotypic studies in a Chinese population.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shan J,
|
||
Chen B,
|
||
Lin P,
|
||
Li D,
|
||
Luo Y,
|
||
Ji K,
|
||
Zheng J,
|
||
Yuan Y,
|
||
Yan C</span><br />
|
||
<span class="medgenPMjournal">Neuromolecular Med</span>
|
||
2014 Dec;16(4):782-6.
|
||
Epub 2014 Oct 5
|
||
doi: 10.1007/s12017-014-8327-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25283883" target="_blank">25283883</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24008050">Distal myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pénisson-Besnier I</span><br />
|
||
<span class="medgenPMjournal">Rev Neurol (Paris)</span>
|
||
2013 Aug-Sep;169(8-9):534-45.
|
||
Epub 2013 Sep 3
|
||
doi: 10.1016/j.neurol.2012.09.021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24008050" target="_blank">24008050</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9392016">Oculopharyngeal muscular dystrophy in Uruguay.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Medici M,
|
||
Pizzarossa C,
|
||
Skuk D,
|
||
Yorio D,
|
||
Emmanuelli G,
|
||
Mesa R</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
1997 Oct;7 Suppl 1:S50-2.
|
||
doi: 10.1016/s0960-8966(97)00082-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9392016" target="_blank">9392016</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Oculopharyngeal%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 (114)</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.
|
||
Epub 2024 Jul 16
|
||
doi: 10.1097/WCO.0000000000001298.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39017649" target="_blank">39017649</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28815453">The clinical eye.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Elia F,
|
||
Covella M,
|
||
Perna M,
|
||
Aprà F,
|
||
Crupi V</span><br />
|
||
<span class="medgenPMjournal">Intern Emerg Med</span>
|
||
2018 Mar;13(2):213-217.
|
||
Epub 2017 Aug 16
|
||
doi: 10.1007/s11739-017-1739-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28815453" target="_blank">28815453</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24008050">Distal myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pénisson-Besnier I</span><br />
|
||
<span class="medgenPMjournal">Rev Neurol (Paris)</span>
|
||
2013 Aug-Sep;169(8-9):534-45.
|
||
Epub 2013 Sep 3
|
||
doi: 10.1016/j.neurol.2012.09.021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24008050" target="_blank">24008050</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10711989">Oculopharyngeal muscular dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brais B,
|
||
Rouleau GA,
|
||
Bouchard JP,
|
||
Fardeau M,
|
||
Tomé FM</span><br />
|
||
<span class="medgenPMjournal">Semin Neurol</span>
|
||
1999;19(1):59-66.
|
||
doi: 10.1055/s-2008-1040826.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10711989" target="_blank">10711989</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10829913">Oculopharyngeal muscular dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sarkar AK,
|
||
Biswas SK,
|
||
Ghosh AK,
|
||
Mitra P,
|
||
Ghosh SK,
|
||
Mathew J</span><br />
|
||
<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
1995 Jul-Aug;62(4):496-8.
|
||
doi: 10.1007/BF02755075.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10829913" target="_blank">10829913</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Oculopharyngeal%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 (196)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39503119">A Review of Muscular Dystrophies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hoang T,
|
||
Dowdy RAE</span><br />
|
||
<span class="medgenPMjournal">Anesth Prog</span>
|
||
2024 May 3;71(1):44-52.
|
||
doi: 10.2344/673191.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39503119" target="_blank">39503119</a><a href="/pmc/articles/PMC11101287" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37483025">Indications for Tube Feeding in Adults with Muscular Disorders: A Scoping Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Middelink M,
|
||
Voermans NC,
|
||
van Engelen BGM,
|
||
Janssen MCH,
|
||
Groothuis JT,
|
||
Knuijt S,
|
||
Zweers-van Essen H</span><br />
|
||
<span class="medgenPMjournal">J Neuromuscul Dis</span>
|
||
2023;10(5):777-785.
|
||
doi: 10.3233/JND-230014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37483025" target="_blank">37483025</a><a href="/pmc/articles/PMC10578233" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24259282">Safety of botulinum toxin for dysphagia in oculopharyngeal muscular dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Youssof S,
|
||
Schrader RM,
|
||
Romero-Clark C,
|
||
Roy G,
|
||
Spafford M</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2014 Apr;49(4):601-3.
|
||
Epub 2014 Feb 25
|
||
doi: 10.1002/mus.24123.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24259282" target="_blank">24259282</a><a href="/pmc/articles/PMC5215498" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20689305">Speech pathology interventions in patients with neuromuscular diseases: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Knuijt S,
|
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Cup EH,
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Pieterse AJ,
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de Swart BJ,
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van der Wilt GJ,
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van Engelen BG,
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|
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<span class="bold">PMID: </span><a href="/pubmed/20689305" target="_blank">20689305</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/16530457">Oculopharyngeal muscular dystrophy: potential therapies for an aggregate-associated disorder.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Davies JE,
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Berger Z,
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<div class="nl"><a target="_blank" href="/pubmed/37926637">Emerging and established biomarkers of oculopharyngeal muscular dystrophy.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/24259282">Safety of botulinum toxin for dysphagia in oculopharyngeal muscular dystrophy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Youssof S,
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Schrader RM,
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Romero-Clark C,
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<div class="nl"><a target="_blank" href="/pubmed/10711989">Oculopharyngeal muscular dystrophy.</a></div>
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Rouleau GA,
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<div class="nl"><a target="_blank" href="/pubmed/10829913">Oculopharyngeal muscular dystrophy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Sarkar AK,
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Biswas SK,
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Ghosh AK,
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Mitra P,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Oculopharyngeal%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 (53)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/34334411">Behavioural Impairment and Frontotemporal Dementia in Oculopharyngeal Muscular Dystrophy.</a></div>
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|
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||
<div class="nl"><a target="_blank" href="/pubmed/24259282">Safety of botulinum toxin for dysphagia in oculopharyngeal muscular dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Youssof S,
|
||
Schrader RM,
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||
Romero-Clark C,
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Roy G,
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Spafford M</span><br />
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<span class="medgenPMjournal">Muscle Nerve</span>
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2014 Apr;49(4):601-3.
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Epub 2014 Feb 25
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doi: 10.1002/mus.24123.
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<span class="bold">PMID: </span><a href="/pubmed/24259282" target="_blank">24259282</a><a href="/pmc/articles/PMC5215498" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/14988608">Mitochondrial abnormalities in genetically assessed oculopharyngeal muscular dystrophy.</a></div>
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Malandrini A,
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Cardaioli E,
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De Stefano R,
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Franci M,
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Salvadori C,
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Mari F,
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<div class="nl"><a target="_blank" href="/pubmed/10711989">Oculopharyngeal muscular dystrophy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Brais B,
|
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Rouleau GA,
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Bouchard JP,
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Fardeau M,
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<div class="nl"><a target="_blank" href="/pubmed/9392014">Epidemiology and inheritance of oculopharyngeal muscular dystrophy in Israel.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Blumen SC,
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Nisipeanu P,
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Sadeh M,
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Asherov A,
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Blumen N,
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Wirguin Y,
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Khilkevich O,
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<span class="bold">PMID: </span><a href="/pubmed/9392014" target="_blank">9392014</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Oculopharyngeal%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 (105)</a></div></div>
|
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</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>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/30950905">Resistance towards nondepolarising muscle relaxants: prolonged onset time: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mørk EL,
|
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Kristensen ML,
|
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Stokholm JB,
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||
Söderström CM,
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||
Madsen MV,
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||
Gätke MR</span><br />
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||
<span class="medgenPMjournal">Eur J Anaesthesiol</span>
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||
2019 Jul;36(7):477-485.
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||
doi: 10.1097/EJA.0000000000000991.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30950905" target="_blank">30950905</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23468283">A systematic review and meta-analysis of measurements of tongue and hand strength and endurance using the Iowa Oral Performance Instrument (IOPI).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Adams V,
|
||
Mathisen B,
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||
Baines S,
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||
Lazarus C,
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||
Epub 2013 Mar 7
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||
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||
<span class="bold">PMID: </span><a href="/pubmed/23468283" target="_blank">23468283</a></div>
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||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20689305">Speech pathology interventions in patients with neuromuscular diseases: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Knuijt S,
|
||
Cup EH,
|
||
Pieterse AJ,
|
||
de Swart BJ,
|
||
van der Wilt GJ,
|
||
van Engelen BG,
|
||
Oostendorp RA,
|
||
Hendricks HT</span><br />
|
||
<span class="medgenPMjournal">Folia Phoniatr Logop</span>
|
||
2011;63(1):15-20.
|
||
Epub 2010 Aug 5
|
||
doi: 10.1159/000319731.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20689305" target="_blank">20689305</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15106246">Treatment for swallowing difficulties (dysphagia) in chronic muscle disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hill M,
|
||
Hughes T,
|
||
Milford C</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2004;(2):CD004303.
|
||
doi: 10.1002/14651858.CD004303.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15106246" target="_blank">15106246</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Oculopharyngeal%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 (4)</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=C0270952%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (6)</a></li>
|
||
<li><a href="/gtr/tests?term=C0270952%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C0270952%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (10)</a></li>
|
||
<li><a href="/gtr/tests?term=C0270952%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (10)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0270952%5bDISCUI%5d" target="_blank">See all (24)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Oculopharyngeal+muscular+dystrophy/5329" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/oculopharyngeal_muscular_dystrophy_1" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Oculopharyngeal%20muscular%20dystrophy" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/oculopharyngeal-muscular-dystrophy" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/7245/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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