{"orpha":289377,"name":"Early-onset myopathy with fatal cardiomyopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["EOMFC","Salih myopathy"],"definition":"A rare genetic neuromuscular disease characterized by neonatal or infancy onset of delayed motor development, generalized muscle weakness involving also the facial muscles, pseudohypertrophy of lower limb muscles, and joint contractures, associated with childhood onset of rapidly progressive dilated cardiomyopathy with arrhythmias leading to sudden cardiac death. Muscle biopsy in early childhood shows minicore-like lesions and centralized nuclei, with dystrophic features being more conspicuous in the second decade of life.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-289377/","orphanet_url":"https://www.orpha.net/en/disease/detail/289377","names":{"fr":{"name":"Myopathie précoce avec cardiomyopathie létale","synonyms":["EOMFC","Myopathie de Salih"],"definition":"Maladie neuromusculaire génétique rare caractérisée par l'apparition néonatale ou infantile d'un retard de développement moteur, d'une faiblesse musculaire généralisée affectant également les muscles faciaux, d'une pseudo-hypertrophie des muscles des membres inférieurs et des contractures articulaires, associée à une cardiomyopathie dilatée rapidement progressive apparaissant dans l'enfance avec des arythmies conduisant à la mort cardiaque subite. La biopsie musculaire réalisée dans la petite enfance révèle des lésions de type minicore et des noyaux centralisés, les signes de la dystrophie étant plus manifestes dans la deuxième décennie de la vie."},"de":{"name":"Myopathie mit fataler Kardiomyopathie, früh-beginnende Form","synonyms":["EOMFC","Myopathie Typ Salih"],"definition":"Eine genetisch bedingte neuromuskuläre Erkrankung, die durch eine Kardiomyopathie mit verzögerter motorischer Entwicklung im Neugeborenen- oder Säuglingsalter gekennzeichnet ist. Sie geht mit einer generalisierten Muskelschwäche (auch der Gesichtsmuskulatur), Pseudohypertrophie der Muskulatur der unteren Extremitäten und Gelenkkontrakturen einher. Typischerweise entwickelt sich im Kindesalter eine rasch fortschreitende dilatative Kardiomyopathie mit Herzrhythmusstörungen, die zum plötzlichen Herztod führen kann. Muskelbiopsien im frühen Kindesalter zeigen Minikernläsionen und zentrale Kerne, wobei die dystrophischen Merkmale im zweiten Lebensjahrzehnt deutlicher hervortreten."},"es":{"name":"Miopatía de inicio precoz con miocardiopatía letal","synonyms":["EOMFC","Miopatía de Salih"],"definition":"Es una enfermedad neuromuscular genética poco frecuente caracterizada por el inicio neonatal o en la lactancia de retraso del desarrollo motor, debilidad muscular generalizada que afecta también a los músculos faciales, pseudohipertrofia de los músculos de las extremidades inferiores y contracturas articulares, asociada con la aparición en la infancia de miocardiopatía dilatada rápidamente progresiva con arritmias que conducen a muerte súbita cardiaca. La biopsia muscular en la primera infancia muestra lesiones de tipo minicore y núcleos centrales, siendo las características distróficas más notorias en la segunda década de vida."},"it":{"name":"Miopatia ad esordio precoce con cardiomiopatia letale","definition":"Si tratta di una malattia neuromuscolare genetica rara, ad esordio nel periodo neonatale o nella prima infanzia con ritardo dello sviluppo motorio, debolezza muscolare generalizzata che interessa anche i muscoli facciali, pseudoipertrofia dei muscoli degli arti inferiori e contratture articolari, associate a cardiomiopatia dilatativa ad esordio infantile e alla progressione rapida con aritmie che esitano nella morte cardiaca improvvisa. La biopsia muscolare nella prima infanzia mostra lesioni simil-minicore e nuclei centralizzati, con distrofia più marcata nella seconda decade di vita."},"nl":{"name":"Vroeg aanvangende myopathie met fatale cardiomyopathie","synonyms":["EOMFC","Myopathie van Salih"],"definition":"Een zeldzame, genetische neuromusculaire aandoening, gekarakteriseerd door neonatale of infantiele aanvang van motorische ontwikkelingsachterstand, gegeneraliseerde spierzwakte met ook betrokkenheid van aangezichtsspieren, pseudohypertrofie van spieren van onderste ledematen, en gewrichtscontracturen, geassocieerd met aanvang in de kindertijd van snel progressieve gedilateerde cardiomyopathie met aritmie, wat leidt tot plotse hartdood. Spierbiopsie in de vroege kindertijd toont op minicore gelijkende laesies en gecentraliseerde nuclei, met dystrofische kenmerken die opvallender aanwezig zijn in het tweede levensdecennium."},"pt":{"name":"Miopatia de início precoce com miocardiopatia fatal"},"pl":{"name":"Miopatia o wczesnym początku ze śmiertelną kardiomiopatią","synonyms":["EOMFC","Salih myopathy"]},"cs":{"name":"Myopatie s časným nástupem a fatální kardiomyopatií","synonyms":["EOMFC","Salih myopathy"]},"uk":{"name":"Рання міопатія з фатальною кардіоміопатією","synonyms":["EOMFC","Міопатія Саліха"],"definition":"A rare genetic neuromuscular disease characterized by neonatal or infancy onset of delayed motor development, generalized muscle weakness involving also the facial muscles, pseudohypertrophy of lower limb muscles, and joint contractures, associated with childhood onset of rapidly progressive dilated cardiomyopathy with arrhythmias leading to sudden cardiac death. Muscle biopsy in early childhood shows minicore-like lesions and centralized nuclei, with dystrophic features being more conspicuous in the second decade of life."},"zh":{"name":"早发性肌病伴致死性心肌病","synonyms":["Salih肌病"],"definition":"一种罕见的遗传性神经肌肉病，其特征是新生儿或婴儿早期出现运动发育迟缓，全身肌无力也累及面肌，下肢肌肉假性肥大和关节挛缩，与儿童期快速进展性扩张型心肌病伴心律失常，可导致心源性猝死。儿童早期肌肉活检显示小轴空样变和细胞细胞核集中，营养不良在第二个十年更为明显。"},"tr":{"name":"Fatal kardiyomiyopati ile seyreden erken-başlangıçlı miyopati","synonyms":["EOMFC","Salih miyopati"]}},"xrefs":[{"source":"OMIM","code":"611705","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C7Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0012714","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567129","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2673677","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":206656,"name":"Non-dystrophic myopathy","classifications":[156,181]},{"orpha":209053,"name":"Qualitative or quantitative defects of titin","classifications":[156]}],"children":[],"genes":[{"symbol":"TTN","name":"titin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17444505[PMID]_22238790[PMID]","hgnc":"12403","ensembl":"ENSG00000155657","omim":"188840","loci":["2q31.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}