{"orpha":593,"name":"Myofibrillar myopathy","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["MFM"],"definition":"Myofibrillar myopathy (MFM) describes a group of skeletal and cardiac muscle disorders, defined by the disintegration of myofibrils and aggregation of degradation products into intracellular inclusions, and is typically clinically characterized by slowly-progressive muscle weakness, which initially involves the distal muscles, but is highly variable and that can affect the proximal muscles as well as the cardiac and respiratory muscles in some patients.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-593/","orphanet_url":"https://www.orpha.net/en/disease/detail/593","names":{"fr":{"name":"Myopathie myofibrillaire","definition":"Groupe de maladies des muscles squelettiques et cardiaques défini par la désintégration des myofibrilles et l'agrégation des produits de dégradation en inclusions intracellulaires. Les maladies se caractérisent cliniquement par une faiblesse musculaire à progression lente, affectant initialement les muscles distaux, mais qui est très inconstante et peut affecter les muscles proximaux ainsi que les muscles cardiaques et respiratoires chez certains patients."},"de":{"name":"Myopathie, myofibrilläre","synonyms":["MFM"],"definition":"Die myofibrilläre Myopathie (MFM) beschreibt eine Gruppe von Erkrankungen der Skelett- und Herzmuskulatur, die durch den Zerfall von Myofibrillen und die Aggregation von Abbauprodukten zu intrazellulären Einschlüssen gekennzeichnet sind. Klinisch äußert sich dies typischerweise in einer langsam fortschreitenden Muskelschwäche, die zunächst die distalen Muskeln betrifft, jedoch sehr variabel ist und bei einigen Patienten auch die proximalen Muskeln sowie die Herz- und Atemmuskulatur betreffen kann."},"es":{"name":"Miopatía miofibrilar","synonyms":["MFM","MMF"],"definition":"Este término describe un grupo de trastornos musculares esqueléticos y cardíacos definido por la desintegración de las miofibrillas y el acúmulo de productos de degradación en inclusiones intracelulares. Clínicamente se caracteriza por una debilidad muscular lentamente progresiva, que afecta inicialmente a los músculos distales, siendo muy variable y que puede afectar también a los músculos proximales, así como a los músculos cardíacos y respiratorios en algunos afectados."},"it":{"name":"Miopatia miofibrillare","synonyms":["MFN"],"definition":"La miopatia miofibrillare (MFM) comprende un gruppo di malattie scheletriche e del muscolo cardiaco, causate dalla distruzione delle miofibrille e dall'aggregazione dei prodotti della loro degradazione sotto forma di inclusioni intracellulari. Dal punto di vista clinico, di solito è caratterizzata da debolezza muscolare a progressione lenta e molto variabile, che inizialmente interessa i muscoli distali, ma può colpire anche i muscoli prossimali, nonché, in alcuni pazienti, il muscolo cardiaco e i muscoli respiratori."},"nl":{"name":"Myofibrillaire myopathie","synonyms":["MFM"],"definition":"Myofibrillaire myopathie (MFM) beschrijft een groep van skeletale en cardiale spierstoornissen die worden gedefinieerd door desintegratie van myofibrillen en aggregatie van degradatieproducten in intracellulaire inclusies. Een typisch klinisch kenmerk is traag progressieve spierzwakte die initieel de distale spieren treft, maar er is een hoge variabiliteit en proximale spieren kunnen eveneens getroffen worden, alsook hart- en ademhalingsspieren in sommige patiënten."},"pt":{"name":"Miopatia miofibrilar","synonyms":["MFM"]},"pl":{"name":"Miopatia miofibrylarna","synonyms":["MFM"],"definition":"Miopatia miofibrylarna (MFM) obejmuje grupę schorzeń dotyczących mięśni szkieletowych i mięśnia sercowego, których istotą jest rozpad miofibryli i agregacja produktów degradacji do postaci wtrętów wewnątrzkomórkowych. Obraz kliniczny charakteryzuje się zwykle wolno postępującym osłabieniem mięśni, które początkowo obejmuje mięśnie dystalne, ale wskutek zmienności u niektórych pacjentów może dotyczyć mięśni proksymalnych, a także oddechowych i mięśnia sercowego."},"cs":{"name":"Myofibrilární myopatie","synonyms":["MFM"]},"uk":{"name":"Міофібрилярна міопатія","synonyms":["MFM"],"definition":"Myofibrillar myopathy (MFM) describes a group of skeletal and cardiac muscle disorders, defined by the disintegration of myofibrils and aggregation of degradation products into intracellular inclusions, and is typically clinically characterized by slowly-progressive muscle weakness, which initially involves the distal muscles, but is highly variable and that can affect the proximal muscles as well as the cardiac and respiratory muscles in some patients."},"zh":{"name":"肌原纤维肌病"},"tr":{"name":"Miyofibriler miyopati"}},"xrefs":[{"source":"ICD-11","code":"8C76","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"125656853"},{"source":"MONDO","code":"0018943","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"18943","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C580316","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2678065","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10529","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10087101","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":206656,"name":"Non-dystrophic myopathy","classifications":[156,181]}],"children":[{"orpha":98910,"name":"Alpha-crystallinopathy","type":"Clinical group"},{"orpha":708133,"name":"Autosomal dominant ACTN2-related distal myopathy","type":"Disease"},{"orpha":199340,"name":"BAG3-related myofibrillar myopathy","type":"Disease"},{"orpha":708126,"name":"DNAJB6-related distal myopathy","type":"Disease"},{"orpha":98909,"name":"Desminopathy","type":"Disease"},{"orpha":476093,"name":"HSPB8-related autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome","type":"Disease"},{"orpha":476403,"name":"Hypercontractile muscle stiffness syndrome","type":"Clinical group"},{"orpha":496686,"name":"Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome","type":"Disease"},{"orpha":98912,"name":"Late-onset distal myopathy, Markesbery-Griggs type","type":"Disease"},{"orpha":171445,"name":"Muscle filaminopathy","type":"Disease"},{"orpha":209224,"name":"Myotilinopathy","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}