{"orpha":97239,"name":"Reducing body myopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare myopathy characterized by progressive muscle weakness and the presence of characteristic reducing bodies in muscle fibres. Reducing bodies are defined histopathologically by a strong menadione nitro blue tetrazolium reaction in the absence of the substrate, alpha-glycerophosphate.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-97239/","orphanet_url":"https://www.orpha.net/en/disease/detail/97239","names":{"fr":{"name":"Myopathie à corps réducteurs","definition":"Myopathie rare caractérisée par une faiblesse musculaire progressive et la présence de corps réducteurs caractéristiques dans les fibres musculaires. Les corps réducteurs se caractérisent, sur le plan histopathologique, par une forte réaction à la menadione-nitro-bleu-tétrazolium en l'absence du substrat, l'alpha-glycérophosphate."},"de":{"name":"Reducing-Body-Myopathie","synonyms":["Myopathie mit reduzierenden Einschlusskörpern"],"definition":"Die Reducing-Body-Myopathie (RBM) ist eine seltene Muskelerkrankung mit progredienter Muskelschwäche und charakteristischen Einschlusskörpern in den betroffenen Muskelfasern."},"es":{"name":"Miopatía con inclusiones reductoras","definition":"La miopatía con cuerpos reductores (MCR) es una enfermedad muscular rara caracterizada por una debilidad muscular progresiva y por la presencia de cuerpos de inclusión característicos en las fibras musculares afectadas."},"it":{"name":"Miopatia con corpi ridotti"},"nl":{"name":"Reducing body-myopathie","definition":"Reducing body-myopathie (RBM) is een zeldzame aandoening van spier, gekenmerkt door progressieve spierzwakte en aanwezigheid van typische inclusielichaampjes in aangetaste spiervezels."},"pt":{"name":"Miopatia com corpos redutores","definition":"A miopatia de corpos redutores (RBM) é uma doença muscular rara marcada por fraqueza muscular progressiva e a presença de corpos de inclusão característicos nas fibras musculares afetadas."},"pl":{"name":"Miopatia z ciałkami redukującymi"},"cs":{"name":"Reducing body myopatie"},"uk":{"name":"Міопатія з тільцями що редукуються","definition":"Reducing body myopathy (RBM) is a rare muscle disorder marked by progressive muscle weakness and the presence of characteristic inclusion bodies in affected muscle fibres."},"zh":{"name":"还原体肌病","definition":"还原体肌病（RBM）是一种罕见的肌肉疾病，其特征是进行性肌无力和受累肌肉纤维中存在特征性包涵体。"},"tr":{"name":"Vücut miyopatisinin azaltılması"}},"xrefs":[{"source":"OMIM","code":"300717","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"300718","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.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"397698784"},{"source":"MONDO","code":"0019948","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0270970","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12162","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":"FHL1","name":"four and a half LIM domains 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18274675[PMID]","hgnc":"3702","ensembl":"ENSG00000022267","omim":"300163","loci":["Xq26.3"]}],"genes_via_subtypes":[],"inheritance":["X-linked dominant","X-linked recessive"],"onset":["Adult","Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":45.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}