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<meta name="keywords" content="C5561956, disease or syndrome, notch2nlc, oculopharyngodistal myopathy 3, opdm3, 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="Oculopharyngodistal myopathy-3 (OPDM3) is a neuromyodegenerative disease characterized by progressive muscle weakness with ocular, facial, pharyngeal, and distal limb involvement, resulting in dysarthria and gait difficulties. The onset of the disorder is usually in adulthood, although childhood onset has rarely been reported. Additional features include hyporeflexia, proximal muscle weakness, neck muscle weakness, dysarthria, dysphagia, and ptosis. Some patients may develop pigmentary retinopathy, peripheral neuropathy, or hearing loss. Cognition is usually not affected, but there may be deficits or psychiatric manifestations. Brain imaging tends to show a leukoencephalopathy, often with a characteristic linear signal along the corticomedullary junction on brain imaging. Skin and muscle biopsy show intranuclear inclusions and rimmed vacuoles. Many of the clinical features are reminiscent of NIID, suggesting that these disorders likely fall within a broad phenotypic spectrum of diseases with neuromyodegenerative features associated with abnormal repeat expansions in this gene (summary by Ogasawara et al., 2020 and Yu et al., 2021). For a discussion of genetic heterogeneity of OPDM, see OPDM1 (164310)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=1794166
|
||
ConceptID=C5561956
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Oculopharyngodistal myopathy 3<span class="h1sub">(OPDM3)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794166</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:">C5561956</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>OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3</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="NOTCH2NLC - ID: 100996717 - NCBI Gene" href="/gene/100996717" class="medgenPMinfo">NOTCH2NLC</a> (1q21.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0023671" target="_blank">MONDO:0023671</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/619473" target="_blank">619473</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Oculopharyngodistal myopathy-3 (OPDM3) is a neuromyodegenerative disease characterized by progressive muscle weakness with ocular, facial, pharyngeal, and distal limb involvement, resulting in dysarthria and gait difficulties. The onset of the disorder is usually in adulthood, although childhood onset has rarely been reported. Additional features include hyporeflexia, proximal muscle weakness, neck muscle weakness, dysarthria, dysphagia, and ptosis. Some patients may develop pigmentary retinopathy, peripheral neuropathy, or hearing loss. Cognition is usually not affected, but there may be deficits or psychiatric manifestations. Brain imaging tends to show a leukoencephalopathy, often with a characteristic linear signal along the corticomedullary junction on brain imaging. Skin and muscle biopsy show intranuclear inclusions and rimmed vacuoles. Many of the clinical features are reminiscent of NIID, suggesting that these disorders likely fall within a broad phenotypic spectrum of diseases with neuromyodegenerative features associated with abnormal repeat expansions in this gene (summary by Ogasawara et al., 2020 and Yu et al., 2021). For a discussion of genetic heterogeneity of OPDM, see OPDM1 (164310). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<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>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<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>
|
||
<div class="spaceAbove">Reduced strength and weakness of the muscles of the arms and legs.</div>
|
||
<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>
|
||
<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>
|
||
<div class="spaceAbove">Difficulty in swallowing.</div>
|
||
<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>
|
||
<div class="divPopper rprt" id="clin_9163"><div><strong>Conductive hearing impairment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9163</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.">C0018777</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9163">Feature record</a> | <a href="/medgen?term=%22Conductive%20hearing%20impairment%22%5BClinical%20Features%5D%20OR%209163%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9164"><div><strong>Sensorineural hearing loss disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9164</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.">C0018784</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9164">Feature record</a> | <a href="/medgen?term=%22Sensorineural%20hearing%20loss%20disorder%22%5BClinical%20Features%5D%20OR%209164%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_849"><div><strong>Cerebellar ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>849</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.">C0007758</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/849">Feature record</a> | <a href="/medgen?term=%22Cerebellar%20ataxia%22%5BClinical%20Features%5D%20OR%20849%5Buid%5D">Search on this feature</a></div></div>
|
||
<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>
|
||
<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>
|
||
<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>
|
||
<div class="divPopper rprt" id="clin_21635"><div><strong>Tremor</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21635</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.">C0040822</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An unintentional, oscillating to-and-fro muscle movement about a joint axis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21635">Feature record</a> | <a href="/medgen?term=%22Tremor%22%5BClinical%20Features%5D%20OR%2021635%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_43220"><div><strong>Photophobia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43220</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.">C0085636</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/43220">Feature record</a> | <a href="/medgen?term=%22Photophobia%22%5BClinical%20Features%5D%20OR%2043220%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_78722"><div><strong>Leukoencephalopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78722</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.">C0270612</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78722">Feature record</a> | <a href="/medgen?term=%22Leukoencephalopathy%22%5BClinical%20Features%5D%20OR%2078722%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_329971"><div><strong>Increased CSF protein concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>329971</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.">C1806780</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased concentration of protein in the cerebrospinal fluid.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/329971">Feature record</a> | <a href="/medgen?term=%22Increased%20CSF%20protein%20concentration%22%5BClinical%20Features%5D%20OR%20329971%5Buid%5D">Search on this feature</a></div></div>
|
||
<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>
|
||
<div class="spaceAbove">Decreased strength of the neck musculature.</div>
|
||
<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>
|
||
<div class="divPopper rprt" id="clin_98103"><div><strong>Weakness of facial musculature</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98103</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.">C0427055</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98103">Feature record</a> | <a href="/medgen?term=%22Weakness%20of%20facial%20musculature%22%5BClinical%20Features%5D%20OR%2098103%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_234650"><div><strong>Generalized amyotrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>234650</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.">C1389113</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/234650">Feature record</a> | <a href="/medgen?term=%22Generalized%20amyotrophy%22%5BClinical%20Features%5D%20OR%20234650%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_336019"><div><strong>Increased variability in muscle fiber diameter</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336019</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.">C1843700</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336019">Feature record</a> | <a href="/medgen?term=%22Increased%20variability%20in%20muscle%20fiber%20diameter%22%5BClinical%20Features%5D%20OR%20336019%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_338530"><div><strong>Distal amyotrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338530</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.">C1848736</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Muscular atrophy affecting muscles in the distal portions of the extremities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338530">Feature record</a> | <a href="/medgen?term=%22Distal%20amyotrophy%22%5BClinical%20Features%5D%20OR%20338530%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_340089"><div><strong>Rimmed vacuoles</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340089</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.">C1853932</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, rimmed vacuoles are popcorn-like clear vacuoles with a densely blue rim. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340089">Feature record</a> | <a href="/medgen?term=%22Rimmed%20vacuoles%22%5BClinical%20Features%5D%20OR%20340089%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_867771"><div><strong>Increased endomysial connective tissue</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867771</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.">C4022161</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased volume of the endomysium, which is a connective tissue sheath that surrounds each muscule fiber. Together, bundles of muscle fibers form a fasciculus, surrounded by another layer of connective tissue called the perimysium.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/867771">Feature record</a> | <a href="/medgen?term=%22Increased%20endomysial%20connective%20tissue%22%5BClinical%20Features%5D%20OR%20867771%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1623054"><div><strong>Internally nucleated skeletal muscle fibers</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1623054</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.">C4531255</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally increased proportion of nuclei of sarcomeres with an internal localization. Individual muscle fibers are syncytia, formed by embryonic fusion of many myoblasts or later, myosatellite cells. Each muscle fiber contains many nuclei, peripherally positioned immediately adjacent to the sarcolemmal membrane. In healthy muscle only 3-5% of fibers contain nuclei that are located internally, within the cell, but many disease processes lead to internal nuclei.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1623054">Feature record</a> | <a href="/medgen?term=%22Internally%20nucleated%20skeletal%20muscle%20fibers%22%5BClinical%20Features%5D%20OR%201623054%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="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>
|
||
<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>
|
||
<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>
|
||
<div class="divPopper rprt" id="clin_6409"><div><strong>Miosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6409</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.">C0026205</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal (non-physiological) constriction of the pupil.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6409">Feature record</a> | <a href="/medgen?term=%22Miosis%22%5BClinical%20Features%5D%20OR%206409%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_45205"><div><strong>Ophthalmoplegia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>45205</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.">C0029089</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Paralysis of one or more extraocular muscles that are responsible for eye movements.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/45205">Feature record</a> | <a href="/medgen?term=%22Ophthalmoplegia%22%5BClinical%20Features%5D%20OR%2045205%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1643295"><div><strong>Pigmentary retinopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1643295</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.">C4551715</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1643295">Feature record</a> | <a href="/medgen?term=%22Pigmentary%20retinopathy%22%5BClinical%20Features%5D%20OR%201643295%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_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">
|
||
<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">
|
||
<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">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6409" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Miosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_45205" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ophthalmoplegia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1643295" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pigmentary retinopathy</a></span></li><li class="TLline">
|
||
<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">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_338530" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Distal amyotrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_234650" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized amyotrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_867771" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased endomysial connective tissue</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_336019" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased variability in muscle fiber diameter</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1623054" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Internally nucleated skeletal muscle fibers</a></span></li><li class="TLline">
|
||
<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">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_340089" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rimmed vacuoles</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98103" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Weakness of facial musculature</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_849" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar ataxia</a></span></li><li class="TLline">
|
||
<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">
|
||
<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><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_329971" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased CSF protein concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_78722" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leukoencephalopathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_43220" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Photophobia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21635" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tremor</a></span></li></ul></li><li><span class="TLline">Ear malformation</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9163" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Conductive hearing impairment</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9164" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sensorineural hearing loss disorder</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></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=C1834014[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=320250">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=320250" target="_blank" href="/omim/164310">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/320250" ref="tree=GTR&ncbi_uid=320250&link_uid=320250" title="View MedGen record for 'Oculopharyngodistal myopathy'">Oculopharyngodistal myopathy</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1684682" target="_blank" href="/omim/164310">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=1684682" ref="ncbi_uid=1684682">V</a></span></span><span class="TLline"><a href="/medgen/1684682" ref="tree=GTR&ncbi_uid=1684682&link_uid=1684682" title="View MedGen record for 'Oculopharyngodistal myopathy 1'">Oculopharyngodistal myopathy 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=1718769" target="_blank" href="/omim/605072">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=1718769" ref="ncbi_uid=1718769">V</a></span></span><span class="TLline"><a href="/medgen/1718769" ref="tree=GTR&ncbi_uid=1718769&link_uid=1718769" title="View MedGen record for 'Oculopharyngodistal myopathy 2'">Oculopharyngodistal myopathy 2</a></span></li><li class="matched_ds"><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=1794166" target="_blank" href="/omim/618025">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=1794166" ref="ncbi_uid=1794166">V</a></span></span><span class="TLline">Oculopharyngodistal myopathy 3</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/1826097" ref="tree=MeSH" title="MedGen record for Autosomal dominant distal myopathy">Autosomal dominant distal myopathy</a></span><ul><li><span class="TLline"><a href="/medgen/320250" ref="tree=MeSH" title="MedGen record for Oculopharyngodistal myopathy">Oculopharyngodistal myopathy</a></span><ul><li><span class="matched_ds">Oculopharyngodistal myopathy 3</span></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/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><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(oculopharyngodistal%20myopathy%203)%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 (1)</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/35022573">Neurodegenerative diseases associated with non-coding CGG tandem repeat expansions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhou ZD,
|
||
Jankovic J,
|
||
Ashizawa T,
|
||
Tan EK</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Neurol</span>
|
||
2022 Mar;18(3):145-157.
|
||
Epub 2022 Jan 12
|
||
doi: 10.1038/s41582-021-00612-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35022573" target="_blank">35022573</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34333668">NOTCH2NLC-related repeat expansion disorders: an expanding group of neurodegenerative disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cao L,
|
||
Yan Y,
|
||
Zhao G</span><br />
|
||
<span class="medgenPMjournal">Neurol Sci</span>
|
||
2021 Oct;42(10):4055-4062.
|
||
Epub 2021 Aug 1
|
||
doi: 10.1007/s10072-021-05498-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34333668" target="_blank">34333668</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34047774">Clinicopathologic Features of Oculopharyngodistal Myopathy With LRP12 CGG Repeat Expansions Compared With Other Oculopharyngodistal Myopathy Subtypes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kumutpongpanich T,
|
||
Ogasawara M,
|
||
Ozaki A,
|
||
Ishiura H,
|
||
Tsuji S,
|
||
Minami N,
|
||
Hayashi S,
|
||
Noguchi S,
|
||
Iida A,
|
||
Nishino I;
|
||
OPDM_LRP12 Study Group,
|
||
Mori-Yoshimura M,
|
||
Oya Y,
|
||
Ono K,
|
||
Shimizu T,
|
||
Kawata A,
|
||
Shimohama S,
|
||
Toyooka K,
|
||
Endo K,
|
||
Toru S,
|
||
Sasaki O,
|
||
Isahaya K,
|
||
Takahashi MP,
|
||
Iwasa K,
|
||
Kira JI,
|
||
Yamamoto T,
|
||
Kawamoto M,
|
||
Hamano T,
|
||
Sugie K,
|
||
Eura N,
|
||
Shiota T,
|
||
Koide M,
|
||
Sekiya K,
|
||
Kishi H,
|
||
Hideyama T,
|
||
Kawai S,
|
||
Yanagimoto S,
|
||
Sato H,
|
||
Arahata H,
|
||
Murayama S,
|
||
Saito K,
|
||
Hara H,
|
||
Kanda T,
|
||
Yaguchi H,
|
||
Imai N,
|
||
Kawagashira Y,
|
||
Sanada M,
|
||
Obara K,
|
||
Kaido M,
|
||
Furuta M,
|
||
Kurashige T,
|
||
Hara W,
|
||
Kuzume D,
|
||
Yamamoto M,
|
||
Tsugawa J,
|
||
Kishida H,
|
||
Ishizuka N,
|
||
Morimoto K,
|
||
Tsuji Y,
|
||
Tsuneyama A,
|
||
Matsuno A,
|
||
Sasaki R,
|
||
Tamakoshi D,
|
||
Abe E,
|
||
Yamada S,
|
||
Uzawa A</span><br />
|
||
<span class="medgenPMjournal">JAMA Neurol</span>
|
||
2021 Jul 1;78(7):853-863.
|
||
doi: 10.1001/jamaneurol.2021.1509.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34047774" target="_blank">34047774</a><a href="/pmc/articles/PMC8164150" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33693509">The GGC repeat expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy type 3.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yu J,
|
||
Deng J,
|
||
Guo X,
|
||
Shan J,
|
||
Luan X,
|
||
Cao L,
|
||
Zhao J,
|
||
Yu M,
|
||
Zhang W,
|
||
Lv H,
|
||
Xie Z,
|
||
Meng L,
|
||
Zheng Y,
|
||
Zhao Y,
|
||
Gang Q,
|
||
Wang Q,
|
||
Liu J,
|
||
Zhu M,
|
||
Zhou B,
|
||
Li P,
|
||
Liu Y,
|
||
Wang Y,
|
||
Yan C,
|
||
Hong D,
|
||
Yuan Y,
|
||
Wang Z</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2021 Jul 28;144(6):1819-1832.
|
||
doi: 10.1093/brain/awab077.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33693509" target="_blank">33693509</a><a href="/pmc/articles/PMC8320266" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21242490">Oculopharyngodistal myopathy is a distinct entity: clinical and genetic features of 47 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Durmus H,
|
||
Laval SH,
|
||
Deymeer F,
|
||
Parman Y,
|
||
Kiyan E,
|
||
Gokyigiti M,
|
||
Ertekin C,
|
||
Ercan I,
|
||
Solakoglu S,
|
||
Karcagi V,
|
||
Straub V,
|
||
Bushby K,
|
||
Lochmüller H,
|
||
Serdaroglu-Oflazer P</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2011 Jan 18;76(3):227-35.
|
||
doi: 10.1212/WNL.0b013e318207b043.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21242490" target="_blank">21242490</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Oculopharyngodistal%20myopathy%203%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 (7)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35022573">Neurodegenerative diseases associated with non-coding CGG tandem repeat expansions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhou ZD,
|
||
Jankovic J,
|
||
Ashizawa T,
|
||
Tan EK</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Neurol</span>
|
||
2022 Mar;18(3):145-157.
|
||
Epub 2022 Jan 12
|
||
doi: 10.1038/s41582-021-00612-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35022573" target="_blank">35022573</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34047774">Clinicopathologic Features of Oculopharyngodistal Myopathy With LRP12 CGG Repeat Expansions Compared With Other Oculopharyngodistal Myopathy Subtypes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kumutpongpanich T,
|
||
Ogasawara M,
|
||
Ozaki A,
|
||
Ishiura H,
|
||
Tsuji S,
|
||
Minami N,
|
||
Hayashi S,
|
||
Noguchi S,
|
||
Iida A,
|
||
Nishino I;
|
||
OPDM_LRP12 Study Group,
|
||
Mori-Yoshimura M,
|
||
Oya Y,
|
||
Ono K,
|
||
Shimizu T,
|
||
Kawata A,
|
||
Shimohama S,
|
||
Toyooka K,
|
||
Endo K,
|
||
Toru S,
|
||
Sasaki O,
|
||
Isahaya K,
|
||
Takahashi MP,
|
||
Iwasa K,
|
||
Kira JI,
|
||
Yamamoto T,
|
||
Kawamoto M,
|
||
Hamano T,
|
||
Sugie K,
|
||
Eura N,
|
||
Shiota T,
|
||
Koide M,
|
||
Sekiya K,
|
||
Kishi H,
|
||
Hideyama T,
|
||
Kawai S,
|
||
Yanagimoto S,
|
||
Sato H,
|
||
Arahata H,
|
||
Murayama S,
|
||
Saito K,
|
||
Hara H,
|
||
Kanda T,
|
||
Yaguchi H,
|
||
Imai N,
|
||
Kawagashira Y,
|
||
Sanada M,
|
||
Obara K,
|
||
Kaido M,
|
||
Furuta M,
|
||
Kurashige T,
|
||
Hara W,
|
||
Kuzume D,
|
||
Yamamoto M,
|
||
Tsugawa J,
|
||
Kishida H,
|
||
Ishizuka N,
|
||
Morimoto K,
|
||
Tsuji Y,
|
||
Tsuneyama A,
|
||
Matsuno A,
|
||
Sasaki R,
|
||
Tamakoshi D,
|
||
Abe E,
|
||
Yamada S,
|
||
Uzawa A</span><br />
|
||
<span class="medgenPMjournal">JAMA Neurol</span>
|
||
2021 Jul 1;78(7):853-863.
|
||
doi: 10.1001/jamaneurol.2021.1509.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34047774" target="_blank">34047774</a><a href="/pmc/articles/PMC8164150" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33599827">Neuronal intranuclear inclusion disease: recognition and update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lu X,
|
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Hong D</span><br />
|
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<span class="medgenPMjournal">J Neural Transm (Vienna)</span>
|
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2021 Mar;128(3):295-303.
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Epub 2021 Feb 18
|
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doi: 10.1007/s00702-021-02313-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33599827" target="_blank">33599827</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33374016">5' UTR CGG repeat expansion in GIPC1 is associated with oculopharyngodistal myopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xi J,
|
||
Wang X,
|
||
Yue D,
|
||
Dou T,
|
||
Wu Q,
|
||
Lu J,
|
||
Liu Y,
|
||
Yu W,
|
||
Qiao K,
|
||
Lin J,
|
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Luo S,
|
||
Li J,
|
||
Du A,
|
||
Dong J,
|
||
Chen Y,
|
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Luo L,
|
||
Yang J,
|
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Niu Z,
|
||
Liang Z,
|
||
Zhao C,
|
||
Lu J,
|
||
Zhu W,
|
||
Zhou Y</span><br />
|
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<span class="medgenPMjournal">Brain</span>
|
||
2021 Mar 3;144(2):601-614.
|
||
doi: 10.1093/brain/awaa426.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33374016" target="_blank">33374016</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21242490">Oculopharyngodistal myopathy is a distinct entity: clinical and genetic features of 47 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Durmus H,
|
||
Laval SH,
|
||
Deymeer F,
|
||
Parman Y,
|
||
Kiyan E,
|
||
Gokyigiti M,
|
||
Ertekin C,
|
||
Ercan I,
|
||
Solakoglu S,
|
||
Karcagi V,
|
||
Straub V,
|
||
Bushby K,
|
||
Lochmüller H,
|
||
Serdaroglu-Oflazer P</span><br />
|
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<span class="medgenPMjournal">Neurology</span>
|
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2011 Jan 18;76(3):227-35.
|
||
doi: 10.1212/WNL.0b013e318207b043.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21242490" target="_blank">21242490</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Oculopharyngodistal%20myopathy%203%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 (9)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/21242490">Oculopharyngodistal myopathy is a distinct entity: clinical and genetic features of 47 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Durmus H,
|
||
Laval SH,
|
||
Deymeer F,
|
||
Parman Y,
|
||
Kiyan E,
|
||
Gokyigiti M,
|
||
Ertekin C,
|
||
Ercan I,
|
||
Solakoglu S,
|
||
Karcagi V,
|
||
Straub V,
|
||
Bushby K,
|
||
Lochmüller H,
|
||
Serdaroglu-Oflazer P</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2011 Jan 18;76(3):227-35.
|
||
doi: 10.1212/WNL.0b013e318207b043.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21242490" target="_blank">21242490</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Oculopharyngodistal%20myopathy%203%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 (1)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35788208">NOTCH2NLC-related oculopharyngodistal myopathy type 3 complicated with focal segmental glomerular sclerosis: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ji G,
|
||
Zhao Y,
|
||
Zhang J,
|
||
Dong H,
|
||
Wu H,
|
||
Chen X,
|
||
Qi X,
|
||
Tian Y,
|
||
Shen L,
|
||
Yang G,
|
||
Song X</span><br />
|
||
<span class="medgenPMjournal">BMC Neurol</span>
|
||
2022 Jul 4;22(1):243.
|
||
doi: 10.1186/s12883-022-02766-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35788208" target="_blank">35788208</a><a href="/pmc/articles/PMC9251914" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34927285">Intranuclear inclusions in skin biopsies are not limited to neuronal intranuclear inclusion disease but can also be seen in oculopharyngodistal myopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ogasawara M,
|
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Eura N,
|
||
Nagaoka U,
|
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Sato T,
|
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Arahata H,
|
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Hayashi T,
|
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Okamoto T,
|
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Takahashi Y,
|
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Mori-Yoshimura M,
|
||
Oya Y,
|
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Nakamura A,
|
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Shimazaki R,
|
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Sano T,
|
||
Kumutpongpanich T,
|
||
Minami N,
|
||
Hayashi S,
|
||
Noguchi S,
|
||
Iida A,
|
||
Takao M,
|
||
Nishino I</span><br />
|
||
<span class="medgenPMjournal">Neuropathol Appl Neurobiol</span>
|
||
2022 Apr;48(3):e12787.
|
||
Epub 2021 Dec 28
|
||
doi: 10.1111/nan.12787.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34927285" target="_blank">34927285</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34047774">Clinicopathologic Features of Oculopharyngodistal Myopathy With LRP12 CGG Repeat Expansions Compared With Other Oculopharyngodistal Myopathy Subtypes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kumutpongpanich T,
|
||
Ogasawara M,
|
||
Ozaki A,
|
||
Ishiura H,
|
||
Tsuji S,
|
||
Minami N,
|
||
Hayashi S,
|
||
Noguchi S,
|
||
Iida A,
|
||
Nishino I;
|
||
OPDM_LRP12 Study Group,
|
||
Mori-Yoshimura M,
|
||
Oya Y,
|
||
Ono K,
|
||
Shimizu T,
|
||
Kawata A,
|
||
Shimohama S,
|
||
Toyooka K,
|
||
Endo K,
|
||
Toru S,
|
||
Sasaki O,
|
||
Isahaya K,
|
||
Takahashi MP,
|
||
Iwasa K,
|
||
Kira JI,
|
||
Yamamoto T,
|
||
Kawamoto M,
|
||
Hamano T,
|
||
Sugie K,
|
||
Eura N,
|
||
Shiota T,
|
||
Koide M,
|
||
Sekiya K,
|
||
Kishi H,
|
||
Hideyama T,
|
||
Kawai S,
|
||
Yanagimoto S,
|
||
Sato H,
|
||
Arahata H,
|
||
Murayama S,
|
||
Saito K,
|
||
Hara H,
|
||
Kanda T,
|
||
Yaguchi H,
|
||
Imai N,
|
||
Kawagashira Y,
|
||
Sanada M,
|
||
Obara K,
|
||
Kaido M,
|
||
Furuta M,
|
||
Kurashige T,
|
||
Hara W,
|
||
Kuzume D,
|
||
Yamamoto M,
|
||
Tsugawa J,
|
||
Kishida H,
|
||
Ishizuka N,
|
||
Morimoto K,
|
||
Tsuji Y,
|
||
Tsuneyama A,
|
||
Matsuno A,
|
||
Sasaki R,
|
||
Tamakoshi D,
|
||
Abe E,
|
||
Yamada S,
|
||
Uzawa A</span><br />
|
||
<span class="medgenPMjournal">JAMA Neurol</span>
|
||
2021 Jul 1;78(7):853-863.
|
||
doi: 10.1001/jamaneurol.2021.1509.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34047774" target="_blank">34047774</a><a href="/pmc/articles/PMC8164150" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33374016">5' UTR CGG repeat expansion in GIPC1 is associated with oculopharyngodistal myopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xi J,
|
||
Wang X,
|
||
Yue D,
|
||
Dou T,
|
||
Wu Q,
|
||
Lu J,
|
||
Liu Y,
|
||
Yu W,
|
||
Qiao K,
|
||
Lin J,
|
||
Luo S,
|
||
Li J,
|
||
Du A,
|
||
Dong J,
|
||
Chen Y,
|
||
Luo L,
|
||
Yang J,
|
||
Niu Z,
|
||
Liang Z,
|
||
Zhao C,
|
||
Lu J,
|
||
Zhu W,
|
||
Zhou Y</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2021 Mar 3;144(2):601-614.
|
||
doi: 10.1093/brain/awaa426.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33374016" target="_blank">33374016</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21242490">Oculopharyngodistal myopathy is a distinct entity: clinical and genetic features of 47 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Durmus H,
|
||
Laval SH,
|
||
Deymeer F,
|
||
Parman Y,
|
||
Kiyan E,
|
||
Gokyigiti M,
|
||
Ertekin C,
|
||
Ercan I,
|
||
Solakoglu S,
|
||
Karcagi V,
|
||
Straub V,
|
||
Bushby K,
|
||
Lochmüller H,
|
||
Serdaroglu-Oflazer P</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2011 Jan 18;76(3):227-35.
|
||
doi: 10.1212/WNL.0b013e318207b043.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21242490" target="_blank">21242490</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Oculopharyngodistal%20myopathy%203%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 (5)</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">
|
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<div class="portlet mgSection" id="ID_113">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_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=619473" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Oculopharyngodistal%20myopathy%203" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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</div>
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|
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<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>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(oculopharyngodistal%20myopathy%203)%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></ul></div>
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</div>
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<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=618025" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=100996717[geneid]" target="_blank">View NOTCH2NLC variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=619473" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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</div>
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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/oculopharyngodistal_myopathy_3" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Oculopharyngodistal%20myopathy%203" target="_blank">MedlinePlus</a></li></ul></div>
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||
<div class="portlet_head">
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<h3>Reviews</h3>
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</div>
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<div class="portlet_content">
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||
<ul>
|
||
<li>
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||
<a href="/pubmed/clinical?term=Oculopharyngodistal%20myopathy%203" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Oculopharyngodistal%20myopathy%203%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
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||
<div class="portlet brieflink">
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||
<div class="portlet_head">
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||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
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