{"orpha":544602,"name":"Congenital myopathy with reduced type 2 muscle fibers","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital myopathy with fast-twitch fiber atrophy","Congenital myopathy with reduced type II muscle fibers","Congenital myopathy with type 2 muscle fiber atrophy","Congenital myopathy with type II fiber atrophy"],"definition":"A rare congenital myopathy characterized by neonatal onset of severe muscle weakness with selective atrophy/hypotrophy or absence of type II myofibers. Patients present at birth with hypotonia and respiratory failure, as well as mild facial and severe axial and proximal upper and lower limb weakness with areflexia and mild contractures. Eye movements and cardiac function are normal.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-544602/","orphanet_url":"https://www.orpha.net/en/disease/detail/544602","names":{"fr":{"name":"Myopathie congénitale avec réduction des fibres musculaires de type 2","synonyms":["Myopathie congénitale avec atrophie des fibres musculaires de type 2","Myopathie congénitale avec atrophie des fibres musculaires de type II","Myopathie congénitale avec atrophie des fibres à contraction rapide","Myopathie congénitale avec réduction des fibres musculaires de type II"],"definition":"Myopathie congénitale rare caractérisée par l'apparition néonatale d'une faiblesse musculaire sévère associée à une atrophie/hypotrophie sélective ou absence des fibres musculaires de type 2. À la naissance, les patients présentent une hypotonie et une insuffisance respiratoire, ainsi qu'une légère faiblesse faciale, une faiblesse axiale et proximale sévère des membres supérieurs et inférieurs, ainsi qu'une aréflexie et de légères contractures. Les mouvements oculaires et la fonction cardiaque sont normaux."},"de":{"name":"Kongenitale Myopathie mit reduzierten Typ 2-Muskelfasern","synonyms":["Myopathie, kongenitale, mit Typ II-Muskelfaseratrophie"],"definition":"Eine seltene kongenitale Myopathie, die durch eine bei Neugeborenen auftretende schwere Muskelschwäche mit selektiver Atrophie/Hypotrophie oder Fehlen von Myofasern des Typs II gekennzeichnet ist. Die Patienten zeigen bei der Geburt Hypotonie und Ateminsuffizienz sowie eine leichte Schwäche der Fazialmuskeln und eine schwere axiale und proximale Schwäche der oberen und unteren Gliedmaßen mit Areflexie und leichten Kontrakturen. Die Augenbewegungen und die Herzfunktion sind normal."},"es":{"name":"Miopatía congénita con reducción de fibras musculares de tipo 2","synonyms":["Miopatía congénita con atrofia de fibras de contracción rápida","Miopatía congénita con atrofia de fibras de tipo II","Miopatía congénita con atrofia de fibras musculares de tipo 2","Miopatía congénita con reducción de fibras musculares de tipo II"],"definition":"Es una miopatía congénita poco frecuente caracterizada por la aparición neonatal de debilidad muscular grave con atrofia/ hipotrofia selectiva o ausencia de miofibras de tipo II. Los pacientes presentan hipotonía e insuficiencia respiratoria al nacimiento, así como debilidad facial leve y debilidad axial y proximal grave de las extremidades superiores e inferiores con arreflexia y contracturas leves. Los movimientos oculares y la función cardíaca son normales."},"it":{"name":"Miopatia congenita con riduzione delle fibre muscolari di tipo 2","definition":"Si tratta di una miopatia congenita rara, che insorge nel periodo neonatale con debolezza muscolare grave associata ad atrofia/ipotrofia selettiva o agenesia delle miofibre di tipo II. Alla nascita, i pazienti presentano ipotonia e insufficienza respiratoria, debolezza facciale lieve e grave debolezza assiale e prossimale degli arti superiori e inferiori con areflessia e lievi contratture. I movimenti oculari e la funzione cardiaca sono normali."},"nl":{"name":"Congenitale myopathie met vermindering van type 2 spiervezels","synonyms":["Congenitale myopathie met atrofie van snelle vezels","Congenitale myopathie met type 2-spiervezelatrofie","Congenitale myopathie met type II-vezelatrofie","Congenitale myopathie met vermindering van type II spiervezels"],"definition":"Een zeldzame congenitale myopathie, gekenmerkt door neonatale aanvang van ernstige spierzwakte met selectieve atrofie/hypotrofie of afwezigheid van type II spiervezels. Patiënten presenteren zich bij de geboorte met hypotonie en respiratoir falen, alsook milde faciale en ernstige axiale en proximale zwakte van bovenste en onderste ledematen met areflexie en milde contracturen. Oogbewegingen en hartfunctie zijn normaal."},"pt":{"name":"miopatia congénita com redução de fibras musculares tipo 2"},"pl":{"name":"Wrodzona miopatia ze zredukowanymi włóknami mięśniowymi typu 2","synonyms":["Congenital myopathy with fast-twitch fiber atrophy","Congenital myopathy with reduced type II muscle fibers","Congenital myopathy with type 2 muscle fiber atrophy","Congenital myopathy with type II fiber atrophy"]},"cs":{"name":"Vrozená myopatie s redukovanými svalovými vlákny typu 2","synonyms":["Vrozená myopatie s atrofií vláken typu II","Vrozená myopatie s atrofií svalových vláken typu 2","Vrozená myopatie s redukovanými svalovými vlákny typu II","Vrozená myopatie s atrofií rychle se smršťujících/stahujících vláken"]},"uk":{"name":"Вроджена міопатія зі зменшеними мязовими волокнами, тип 2","synonyms":["Вроджена міопатія з атрофією волокон, що швидко смикаються","Вроджена міопатія зі зменшеними мязовими волокнами ІІ типу","Вроджена міопатія з атрофією мязових волокон 2 типу","Вроджена міопатія з атрофією волокон II типу"],"definition":"A rare congenital myopathy characterized by neonatal onset of severe muscle weakness with selective atrophy/hypotrophy or absence of type II myofibers. Patients present at birth with hypotonia and respiratory failure, as well as mild facial and severe axial and proximal upper and lower limb weakness with areflexia and mild contractures. Eye movements and cardiac function are normal."},"zh":{"name":"先天性肌病伴2型肌纤维减少","synonyms":["Congenital myopathy with reduced type II muscle fibers"]},"tr":{"name":"Azaltılmış tip 2 kas lifi ile seyreden doğumsal miyopati","synonyms":["Tip II fiber atrofisi ile seyreden doğumsal miyopati","Hızlı kasılan fiber atrofisi ile seyreden doğumsal miyopati","Tip 2 kas lifi atrofisi ile seyreden doğumsal miyopati","Azaltılmış tip II kas lifleri ile seyreden doğumsal miyopati"]}},"xrefs":[{"source":"OMIM","code":"618414","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0034109","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5193081","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":97245,"name":"Congenital myopathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"MYL1","name":"myosin light chain 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"30215711[PMID]","hgnc":"7582","ensembl":"ENSG00000168530","omim":"160780","loci":["2q34"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"30215711[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_30215711[PMID]"}],"phenotypes":null}