{"orpha":53698,"name":"Myosin storage myopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hyaline body myopathy"],"definition":"A rare congenital myopathy characterized by generalized proximal and distal muscle weakness and/or atrophy with slow progression. A subset of patients present with scapuloperoneal weakness and scapular winging. Disease onset usually occurs during infancy/childhood, but adult-onset cases have also been reported. Patients may have respiratory problems and/or cardiomyopathy. Muscle biopsies show hyaline body inclusions in type I fibers.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-53698/","orphanet_url":"https://www.orpha.net/en/disease/detail/53698","names":{"fr":{"name":"Myopathie avec surcharge en myosine","synonyms":["Myosinopathie","Myopathie à corps hyalins"],"definition":"Myopathie congénitale rare lentement progressive, caractérisée par une faiblesse généralisée et/ou une atrophie des muscles proximaux et distaux. Certains patients présentent une faiblesse scapulopéronière et un décollement des omoplates. La maladie se déclare généralement dans la petite enfance ou l'enfance, mais des cas d'apparition à l'âge adulte ont également été rapportés. Les patients peuvent présenter des problèmes respiratoires et/ou une cardiomyopathie. Des inclusions de corps hyalins dans les fibres de type I sont visibles à la biopsie musculaire."},"de":{"name":"Myosin-Speicher-Myopathie","synonyms":["Hyaline Körper-Myopathie"],"definition":"Eine seltene kongenitale Myopathie, die durch eine generalisierte proximale und distale Muskelschwäche und/oder -atrophie mit langsamer Progression gekennzeichnet ist. Eine Untergruppe der Patienten weist eine skapuloperoneale Schwäche und Scapula alata auf. Die Erkrankung beginnt in der Regel im Säuglings-/Kindesalter, es wurden jedoch auch Fälle im Erwachsenenalter berichtet. Die Patienten können Atemprobleme und/oder Kardiomyopathie haben. Muskelbiopsien zeigen hyaline Körpereinschlüsse in Typ-I-Fasern."},"es":{"name":"Miopatía por almacenamiento de miosina","synonyms":["Miopatía por cuerpos hialinos"],"definition":"Es una miopatía congénita poco frecuente caracterizada por debilidad y/o atrofia muscular proximal y distal generalizada de progresión lenta. Un subconjunto de pacientes presenta debilidad escapuloperoneal y aleteo escapular. La enfermedad suele debutar en la lactancia o la infancia, aunque también se han descrito casos de inicio en la edad adulta. Los pacientes pueden presentar problemas respiratorios y/o miocardiopatía. La biopsia muscular muestra inclusiones de cuerpos hialinos en las fibras tipo I."},"it":{"name":"Miopatia da accumulo di miosina","synonyms":["Miopatia con corpi ialini"]},"nl":{"name":"Myopathie met myosinestapeling","synonyms":["Myopathie met hyaliene lichaampjes"],"definition":"Een zeldzame congenitale myopathie, gekenmerkt door gegeneraliseerde zwakte en/of atrofie van proximale en distale spieren met trage progressie. Een deel van de patiënten vertoont scapuloperoneale zwakte en afstaande schouderbladen. De ziekte vangt meestal aan tijdens de zuigelingentijd/kindertijd, maar gevallen met aanvang in de volwassenheid werden ook reeds gerapporteerd. Patiënten hebben mogelijk ademhalingsproblemen en/of cardiomyopathie. Spierbiopsie toont inclusies van hyaliene lichaampjes in type I vezels."},"pt":{"name":"Miopatia de armazenamento de miosina","synonyms":["Miopatia de corpos hialinos"],"definition":"Miopatia congénita rara caracterizada por fraqueza muscular proximal e distal generalizada e/ou atrofia com progressão lenta. Um subconjunto de doentes apresenta fraqueza escapuloperoneal e escápula alada. O início da doença geralmente ocorre durante a infância, mas casos de início na idade adulta também foram relatados. Os doentes podem ter problemas respiratórios e/ou cardiomiopatia. Biópsias musculares mostram inclusões de corpo hialino em fibras do tipo I."},"pl":{"name":"Miopatia z ciałkami hialinowymi","synonyms":["Miopatia ze spichrzaniem miozyny"],"definition":"Rzadka, wrodzona, powoli postępująca miopatia charakteryzująca się uogólnionym osłabieniem i/lub zanikiem mięśni proksymalnych i dystalnych. U niektórych chorych obserwuje się osłabienie mięśni grupy łopatkowej i strzałkowej oraz odstające łopatki. Choroba rozpoczyna się zwykle w okresie niemowlęcym/dziecięcym, ale zgłaszano również początek objawów w wieku dorosłym. Mogą wystąpić problemy z oddychaniem i/lub kardiomiopatia. W biopsji mięśniowej widoczne są wtręty hialinowe we włóknach typu I."},"cs":{"name":"Myopatie s hyalinními tělísky","synonyms":["Hyaline body myopathy"]},"uk":{"name":"Міозинова накопичувальна міопатія","synonyms":["Гіалінова міопатія тіла"],"definition":"A rare congenital myopathy characterized by generalized proximal and distal muscle weakness and/or atrophy with slow progression. A subset of patients present with scapuloperoneal weakness and scapular winging. Disease onset usually occurs during infancy/childhood, but adult-onset cases have also been reported. Patients may have respiratory problems and/or cardiomyopathy. Muscle biopsies show hyaline body inclusions in type I fibers."},"zh":{"name":"均质小体肌病"},"tr":{"name":"Hiyalin vücut miyopatisi"}},"xrefs":[{"source":"OMIM","code":"255160","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"608358","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C72.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"352828432"},{"source":"MONDO","code":"0018889","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564253","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1842160","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7148","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]},{"orpha":209185,"name":"Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)","classifications":[156]}],"children":[{"orpha":636965,"name":"Autosomal dominant myosin storage myopathy","type":"Clinical subtype"},{"orpha":636970,"name":"Autosomal recessive myosin storage myopathy","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"MYH7","name":"myosin heavy chain 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21288719[PMID]","hgnc":"7577","ensembl":"ENSG00000092054","omim":"160760","loci":["14q11.2"],"via":{"orpha":636965,"name":"Autosomal dominant myosin storage myopathy"}},{"symbol":"MYH7","name":"myosin heavy chain 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17372140[PMID]","hgnc":"7577","ensembl":"ENSG00000092054","omim":"160760","loci":["14q11.2"],"via":{"orpha":636970,"name":"Autosomal recessive myosin storage myopathy"}}],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}