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<meta name="keywords" content="C4022169, emg: myotonic discharges, finding, 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="High frequency discharges in electromyography (EMG) that vary in amplitude and frequency, waxing and waning continuously with firing frequencies ranging from 150/second down to 20/second and producing a sound that has been referred to as a dive bomber sound." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=867779
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ConceptID=C4022169
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">EMG: myotonic discharges</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867779</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:">C4022169</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0100284">HP:0100284</a></td></tr>
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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>
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<div class="portlet_content ln">High frequency discharges in electromyography (EMG) that vary in amplitude and frequency, waxing and waning continuously with firing frequencies ranging from 150/second down to 20/second and producing a sound that has been referred to as a dive bomber sound. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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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>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">EMG: myotonic discharges</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/1763488" ref="tree=MeSH" title="MedGen record for Abnormality of the musculoskeletal system">Abnormality of the musculoskeletal system</a></span><ul><li><span class="TLline"><a href="/medgen/867380" ref="tree=MeSH" title="MedGen record for Abnormality of the musculature">Abnormality of the musculature</a></span><ul><li><span class="TLline"><a href="/medgen/868777" ref="tree=MeSH" title="MedGen record for Abnormal muscle physiology">Abnormal muscle physiology</a></span><ul><li><span class="TLline"><a href="/medgen/99199" ref="tree=MeSH" title="MedGen record for EMG abnormality">EMG abnormality</a></span><ul><li><span class="matched_ds">EMG: myotonic discharges</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet mgSection" id="ID_112">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat">
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||
<div class="divPopper rprt" id="rdis_371441"><div><strong>Brody myopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>371441</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.">C1832918</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Brody disease (BROD) is an autosomal recessive skeletal muscle disorder characterized by exercise-induced muscle stiffness and cramps primarily affecting the arms, legs, and eyelids, although more generalized muscle involvement may also occur. Symptom onset is most often in the first decade, but many patients present and are diagnosed later in life. Skeletal muscle biopsy typically shows variation in fiber size, increased internal nuclei, and atrophy of type II muscle fibers. Rare patients have been reported to develop malignant hyperthermia after administration of anesthesia, suggesting that patients with the disorder should be tested. The disorder results from defective relaxation of fast-twitch (type II) skeletal muscle fibers due to defects in calcium homeostasis and reuptake in the muscle fiber (summary by Odermatt et al., 2000 and Molenaar et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/371441">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1647990"><div><strong>Schwartz-Jampel syndrome type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1647990</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.">C4551479</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Schwartz-Jampel syndrome type 1 (SJS1) is a rare autosomal recessive disorder characterized by muscle stiffness (myotonia) and chondrodysplasia. Affected individuals usually present in childhood with permanent muscle stiffness or bone deformities. Common clinical features include mask-like facies (narrow palpebral fissures, blepharospasm, and pursed lips); permanent muscle stiffness with continuous skeletal muscle activity recorded on electromyography; dwarfism; pectus carinatum; kyphoscoliosis; bowing of long bones; and epiphyseal, metaphyseal, and hip dysplasia. The disorder is slowly progressive but does not appear to alter life span (summary by Stum et al., 2006).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1647990">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1645741"><div><strong>Autosomal dominant centronuclear myopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1645741</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.">C4551952</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Centronuclear myopathy-1 (CNM1) is an autosomal dominant congenital myopathy characterized by slowly progressive muscular weakness and wasting. The disorder involves mainly limb girdle, trunk, and neck muscles but may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life, and some affected individuals become wheelchair-bound in their fifties. Ptosis and limitation of eye movements occur frequently. The most prominent histopathologic features include high frequency of centrally located nuclei in a large number of extrafusal muscle fibers (which is the basis of the name of the disorder), radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers (summary by Bitoun et al., 2005). Genetic Heterogeneity of Centronuclear Myopathy Centronuclear myopathy is a genetically heterogeneous disorder. See also X-linked CNM (CNMX; 310400), caused by mutation in the MTM1 gene (300415) on chromosome Xq28; CNM2 (255200), caused by mutation in the BIN1 gene (601248) on chromosome 2q14; CNM4 (614807), caused by mutation in the CCDC78 gene (614666) on chromosome 16p13; CNM5 (615959), caused by mutation in the SPEG gene (615950) on chromosome 2q35; and CNM6 (617760), caused by mutation in the ZAK gene (609479) on chromosome 2q31. The mutation in the MYF6 gene that was reported to cause a form of CNM, formerly designated CNM3, has been reclassified as a variant of unknown significance; see 159991.0001. Some patients with mutation in the RYR1 gene (180901) have findings of centronuclear myopathy on skeletal muscle biopsy (see 255320).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1645741">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1684682"><div><strong>Oculopharyngodistal myopathy 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684682</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.">C5231388</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Oculopharyngodistal myopathy-1 (OPDM1) is an autosomal dominant disorder characterized by adult-onset ptosis, external ophthalmoplegia, facial muscle weakness, distal limb muscle weakness and atrophy, and pharyngeal involvement, resulting in dysphagia and dysarthria. Skeletal muscle biopsy shows myopathic changes with rimmed vacuoles. There are variable manifestations of the disorder regarding muscle involvement and severity (summary by Ishiura et al., 2019). Genetic Heterogeneity of Oculopharyngodistal Myopathy See also OPDM2 (618940), caused by trinucleotide repeat expansion in the GIPC1 gene (605072) on chromosome 19p13; OPDM3 (619473), caused by trinucleotide repeat expansion in the NOTCH2NLC gene (618025) on chromosome 1q21; and OPDM4 (619790), caused by trinucleotide repeat expansion in the RILPL1 gene (614092) on chromosome 12q24. Oculopharyngeal muscular dystrophy (OPMD; 164300) is a similar disorder with overlapping features. It is caused by a similar heterozygous trinucleotide repeat expansion in the PABPN1 gene (602279) (summary by Durmus et al., 2011).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1684682">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1645741" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant centronuclear myopathy</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_371441" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brody myopathy</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684682" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oculopharyngodistal myopathy 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1647990" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Schwartz-Jampel syndrome type 1</a></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/26192196">Clinical Features and Treatment Outcomes of Necrotizing Autoimmune Myopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kassardjian CD,
|
||
Lennon VA,
|
||
Alfugham NB,
|
||
Mahler M,
|
||
Milone M</span><br />
|
||
<span class="medgenPMjournal">JAMA Neurol</span>
|
||
2015 Sep;72(9):996-1003.
|
||
doi: 10.1001/jamaneurol.2015.1207.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26192196" target="_blank">26192196</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(emg%3A%20myotonic%20discharges)%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/37584878">Afterdischarges in myotonic dystrophy type 1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang L,
|
||
Chen X,
|
||
Wu R</span><br />
|
||
<span class="medgenPMjournal">Neurol Sci</span>
|
||
2024 Feb;45(2):735-740.
|
||
Epub 2023 Aug 16
|
||
doi: 10.1007/s10072-023-07013-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37584878" target="_blank">37584878</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25454733">Myotonic discharges discriminate chloride from sodium muscle channelopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Drost G,
|
||
Stunnenberg BC,
|
||
Trip J,
|
||
Borm G,
|
||
McGill KC,
|
||
Ginjaar IH,
|
||
van der Kooi AW,
|
||
Zwarts MJ,
|
||
van Engelen BG,
|
||
Faber CG,
|
||
Stegeman DF,
|
||
Lateva Z</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2015 Jan;25(1):73-80.
|
||
Epub 2014 Oct 6
|
||
doi: 10.1016/j.nmd.2014.09.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25454733" target="_blank">25454733</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25186227">Phenotypic variability and molecular genetics in proximal myotonic myopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Papadimas GK,
|
||
Kekou K,
|
||
Papadopoulos C,
|
||
Kararizou E,
|
||
Kanavakis E,
|
||
Manta P</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2015 May;51(5):686-91.
|
||
Epub 2015 Mar 31
|
||
doi: 10.1002/mus.24440.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25186227" target="_blank">25186227</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21256014">Myofibrillar myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Selcen D</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2011 Mar;21(3):161-71.
|
||
Epub 2011 Jan 20
|
||
doi: 10.1016/j.nmd.2010.12.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21256014" target="_blank">21256014</a><a href="/pmc/articles/PMC3052736" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20513102">Absent, unrecognized, and minimal myotonic discharges in myotonic dystrophy type 2.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Young NP,
|
||
Daube JR,
|
||
Sorenson EJ,
|
||
Milone M</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2010 Jun;41(6):758-62.
|
||
doi: 10.1002/mus.21615.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20513102" target="_blank">20513102</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22EMG%3A%20myotonic%20discharges%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 (27)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36792202">Sporadic Myotonic Dystrophy Type 2 in a Japanese Patient.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miyashita K,
|
||
Ii Y,
|
||
Matsuyama H,
|
||
Niwa A,
|
||
Kawana Y,
|
||
Shibata S,
|
||
Minami N,
|
||
Nishino I,
|
||
Tomimoto H</span><br />
|
||
<span class="medgenPMjournal">Intern Med</span>
|
||
2023 Oct 15;62(20):3027-3031.
|
||
Epub 2023 Feb 15
|
||
doi: 10.2169/internalmedicine.0425-22.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36792202" target="_blank">36792202</a><a href="/pmc/articles/PMC10641181" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34602213">Electrodiagnostic Assessment of Myopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martinez-Thompson JM</span><br />
|
||
<span class="medgenPMjournal">Neurol Clin</span>
|
||
2021 Nov;39(4):1035-1049.
|
||
Epub 2021 Aug 31
|
||
doi: 10.1016/j.ncl.2021.06.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34602213" target="_blank">34602213</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32327288">"Status myotonicus" in Na(v)1.4-M1592V channelopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rempe T,
|
||
Subramony SH</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2020 May;30(5):424-426.
|
||
Epub 2020 Mar 12
|
||
doi: 10.1016/j.nmd.2020.03.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32327288" target="_blank">32327288</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30996034">Brody disease: when myotonia is not myotonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Braz L,
|
||
Soares-Dos-Reis R,
|
||
Seabra M,
|
||
Silveira F,
|
||
Guimarães J</span><br />
|
||
<span class="medgenPMjournal">Pract Neurol</span>
|
||
2019 Oct;19(5):417-419.
|
||
Epub 2019 Apr 17
|
||
doi: 10.1136/practneurol-2019-002224.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30996034" target="_blank">30996034</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21256014">Myofibrillar myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Selcen D</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2011 Mar;21(3):161-71.
|
||
Epub 2011 Jan 20
|
||
doi: 10.1016/j.nmd.2010.12.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21256014" target="_blank">21256014</a><a href="/pmc/articles/PMC3052736" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22EMG%3A%20myotonic%20discharges%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 (80)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/21752396">A novel mutation in the SCN4A responsible for cold-induced myotonia with normal electromyography findings on room temperature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bissay V,
|
||
Keymolen K,
|
||
Lissens W,
|
||
Schmedding E,
|
||
De Keyser J</span><br />
|
||
<span class="medgenPMjournal">J Neurol Sci</span>
|
||
2011 Sep 15;308(1-2):162-4.
|
||
Epub 2011 Jul 14
|
||
doi: 10.1016/j.jns.2011.06.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21752396" target="_blank">21752396</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8965841">Myotonia in colchicine myoneuropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rutkove SB,
|
||
De Girolami U,
|
||
Preston DC,
|
||
Freeman R,
|
||
Nardin RA,
|
||
Gouras GK,
|
||
Johns DR,
|
||
Raynor EM</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
1996 Jul;19(7):870-5.
|
||
doi: 10.1002/(SICI)1097-4598(199607)19:7<870::AID-MUS9>3.0.CO;2-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8965841" target="_blank">8965841</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1851512">Neuromyotonia in hereditary motor neuropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hahn AF,
|
||
Parkes AW,
|
||
Bolton CF,
|
||
Stewart SA</span><br />
|
||
<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
|
||
1991 Mar;54(3):230-5.
|
||
doi: 10.1136/jnnp.54.3.230.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1851512" target="_blank">1851512</a><a href="/pmc/articles/PMC1014391" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6840139">Effect of dantrolene sodium in myotonic dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mamoli B,
|
||
Dal-Bianco P,
|
||
Zeitlhofer K</span><br />
|
||
<span class="medgenPMjournal">Eur Neurol</span>
|
||
1983;22(1):29-34.
|
||
doi: 10.1159/000115533.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6840139" target="_blank">6840139</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6763149">Spontaneous electrical activity: an overview.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Buchthal F</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
1982;5(9S):S52-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6763149" target="_blank">6763149</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22EMG%3A%20myotonic%20discharges%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (20)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31277853">Normal and abnormal spontaneous activity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rubin DI</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2019;160:257-279.
|
||
doi: 10.1016/B978-0-444-64032-1.00017-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31277853" target="_blank">31277853</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30414326">Needle electromyography and histopathologic correlation in myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sener U,
|
||
Martinez-Thompson J,
|
||
Laughlin RS,
|
||
Dimberg EL,
|
||
Rubin DI</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2019 Mar;59(3):315-320.
|
||
Epub 2018 Dec 29
|
||
doi: 10.1002/mus.26381.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30414326" target="_blank">30414326</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25868946">Stüve-Wiedemann syndrome in a neonate.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sarafidis K,
|
||
Piretzi K,
|
||
Agakidou E,
|
||
Kohlhase J,
|
||
Zafeiriou D</span><br />
|
||
<span class="medgenPMjournal">Pediatr Int</span>
|
||
2015 Apr;57(2):302-4.
|
||
doi: 10.1111/ped.12431.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25868946" target="_blank">25868946</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25186227">Phenotypic variability and molecular genetics in proximal myotonic myopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Papadimas GK,
|
||
Kekou K,
|
||
Papadopoulos C,
|
||
Kararizou E,
|
||
Kanavakis E,
|
||
Manta P</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2015 May;51(5):686-91.
|
||
Epub 2015 Mar 31
|
||
doi: 10.1002/mus.24440.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25186227" target="_blank">25186227</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9260160">Electromyography in myopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liguori R,
|
||
Fuglsang-Frederiksen A,
|
||
Nix W,
|
||
Fawcett PR,
|
||
Andersen K</span><br />
|
||
<span class="medgenPMjournal">Neurophysiol Clin</span>
|
||
1997 Jun;27(3):200-3.
|
||
doi: 10.1016/s0987-7053(97)83775-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9260160" target="_blank">9260160</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22EMG%3A%20myotonic%20discharges%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 (16)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37584878">Afterdischarges in myotonic dystrophy type 1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang L,
|
||
Chen X,
|
||
Wu R</span><br />
|
||
<span class="medgenPMjournal">Neurol Sci</span>
|
||
2024 Feb;45(2):735-740.
|
||
Epub 2023 Aug 16
|
||
doi: 10.1007/s10072-023-07013-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37584878" target="_blank">37584878</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34617994">Inclusion body myositis: correlation of clinical outcomes with histopathology, electromyography and laboratory findings.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pinto MV,
|
||
Laughlin RS,
|
||
Klein CJ,
|
||
Mandrekar J,
|
||
Naddaf E</span><br />
|
||
<span class="medgenPMjournal">Rheumatology (Oxford)</span>
|
||
2022 May 30;61(6):2504-2511.
|
||
doi: 10.1093/rheumatology/keab754.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34617994" target="_blank">34617994</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25186227">Phenotypic variability and molecular genetics in proximal myotonic myopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Papadimas GK,
|
||
Kekou K,
|
||
Papadopoulos C,
|
||
Kararizou E,
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||
Kanavakis E,
|
||
Manta P</span><br />
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<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2015 May;51(5):686-91.
|
||
Epub 2015 Mar 31
|
||
doi: 10.1002/mus.24440.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25186227" target="_blank">25186227</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25052913">Does quantitative EMG differ myotonic dystrophy type 2 and type 1?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Szmidt-Salkowska E,
|
||
Gawel M,
|
||
Lusakowska A,
|
||
Nojszewska M,
|
||
Lipowska M,
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||
Sulek A,
|
||
Krysa W,
|
||
Rajkiewicz M,
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Seroka A,
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||
Kaminska AM</span><br />
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||
<span class="medgenPMjournal">J Electromyogr Kinesiol</span>
|
||
2014 Oct;24(5):755-61.
|
||
Epub 2014 Jun 25
|
||
doi: 10.1016/j.jelekin.2014.05.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25052913" target="_blank">25052913</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1716347">Altered Na+ channel activity and reduced Cl- conductance cause hyperexcitability in recessive generalized myotonia (Becker).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Franke C,
|
||
Iaizzo PA,
|
||
Hatt H,
|
||
Spittelmeister W,
|
||
Ricker K,
|
||
Lehmann-Horn F</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
1991 Aug;14(8):762-70.
|
||
doi: 10.1002/mus.880140811.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1716347" target="_blank">1716347</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22EMG%3A%20myotonic%20discharges%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 (31)</a></div></div>
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