{"orpha":261,"name":"Emery-Dreifuss muscular dystrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["EDMD"],"definition":"A neuromuscular disease that is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-261/","orphanet_url":"https://www.orpha.net/en/disease/detail/261","names":{"fr":{"name":"Dystrophie musculaire d'Emery-Dreifuss","synonyms":["DMED","EDMD"],"definition":"Maladie neuromusculaire caractérisée par une faiblesse et une atrophie musculaires, associées à des contractures articulaires d'apparition précoce et à une cardiomyopathie."},"de":{"name":"Emery-Dreifuss Muskeldystrophie","synonyms":["EDMD","Emerinopathie"],"definition":"Eine neuromuskuläre Erkrankung, die durch Muskelschwäche und -atrophie, frühe Gelenkkontrakturen und Kardiomyopathie gekennzeichnet ist."},"es":{"name":"Distrofia muscular de Emery-Dreifuss","definition":"Es una enfermedad neuromuscular caracterizada por debilidad muscular y atrofia, con contracturas articulares de inicio precoz y miocardiopatía."},"it":{"name":"Distrofia muscolare di Emery-Dreifuss","synonyms":["EDMD","Emerinopatia"],"definition":"Si tratta di una malattia neuromuscolare caratterizzata da debolezza e atrofia muscolare, associate a contratture articolari precoci e cardiomiopatia."},"nl":{"name":"Spierdystrofie van Emery-Dreifuss","synonyms":["EDMD"],"definition":"Een neuromusculaire ziekte die wordt gekarakteriseerd door zwakte en atrofie van de spieren, met vroege gewrichtscontracturen en cardiomyopathie."},"pt":{"name":"Distrofia muscular de Emery-Dreifuss","synonyms":["EDMD","Emerinopatia"],"definition":"A distrofia muscular de Emery-Dreifuss (EDMD) é caracterizada por fraqueza e atrofia muscular, com contracturas precoces dos tendões e miocardiopatias."},"pl":{"name":"Dystrofia Emery'ego i Dreifussa","synonyms":["EDMD","Emerynopatia"],"definition":"Choroba nerwowo-mięśniowa charakteryzująca się osłabieniem i zanikiem mięśni, z przykurczami stawowymi o wczesnym początku oraz kardiomiopatią."},"cs":{"name":"Emeryova-Dreifussova svalová dystrofie","synonyms":["EDMD","Emery-Dreifussova svalová dystrofie"]},"uk":{"name":"Мязова дистрофія Емері-Дрейфуса","synonyms":["EDMD"],"definition":"A neuromuscular disease that is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy."},"zh":{"name":"Emery-Dreifuss肌营养不良","synonyms":["EDMD"]},"tr":{"name":"Emery-Dreifuss kas distrofisi","synonyms":["EDMD"]}},"xrefs":[{"source":"OMIM","code":"181350","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"300696","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"310300","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612998","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612999","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614302","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616516","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.0","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"8C70.2","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"749295636"},{"source":"MONDO","code":"0016830","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D020389","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0410189","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6329","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10081544","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":217610,"name":"Neuromuscular disease with dilated cardiomyopathy","classifications":[146,156,233]},{"orpha":206644,"name":"Progressive muscular dystrophy","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[{"orpha":98853,"name":"Autosomal dominant Emery-Dreifuss muscular dystrophy","type":"Etiological subtype"},{"orpha":98855,"name":"Autosomal recessive Emery-Dreifuss muscular dystrophy","type":"Etiological subtype"},{"orpha":98863,"name":"X-linked Emery-Dreifuss muscular dystrophy","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"EMD","name":"emerin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) 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dystrophy"}},{"symbol":"TMEM43","name":"transmembrane protein 43","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21391237[PMID]","hgnc":"28472","ensembl":"ENSG00000170876","omim":"612048","loci":["3p25.1"],"via":{"orpha":98853,"name":"Autosomal dominant Emery-Dreifuss muscular dystrophy"}}],"inheritance":["Autosomal dominant","Autosomal recessive","X-linked recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.3,"area":"Europe","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-06-18","source":"5969090[PMID]_10838246[PMID]_10377322[PMID]_4697975[PMID]_17620497[PMID]_15148145[PMID]_17761684[PMID]_19716112[PMID]_21391237[PMID]","terms":[{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006785","label":"Limb-girdle muscular dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002486","label":"Myotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001315","label":"Reduced tendon reflexes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030117","label":"Absent muscle fiber emerin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001771","label":"Achilles tendon contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003418","label":"Back pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004631","label":"Decreased cervical spine flexion 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(79-30%)","criteria":null},{"hpo":"HP:0008948","label":"Proximal upper limb amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003805","label":"Rimmed vacuoles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003691","label":"Scapular winging","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003306","label":"Spinal rigidity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000912","label":"Sprengel anomaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030051","label":"Tip-toe gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011807","label":"Type 1 muscle fiber atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002515","label":"Waddling gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001678","label":"Atrioventricular block","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001644","label":"Dilated cardiomyopathy","frequency":"Occasional 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(<4-1%)","criteria":null},{"hpo":"HP:0002747","label":"Respiratory insufficiency due to muscle weakness","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001645","label":"Sudden cardiac death","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005155","label":"Ventricular escape rhythm","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001605","label":"Vocal cord paralysis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Excluded (0%)","criteria":null}]}}