{"orpha":266,"name":"Autosomal dominant limb-girdle muscular dystrophy type 1A","type":"Disease","group":"Disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":["LGMD1A","Limb-girdle muscular dystrophy due to myotilin deficiency"],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Distal myotilinopathy","url":"https://raremap.alftech.space/d/ORPHA-266/","orphanet_url":"https://www.orpha.net/en/disease/detail/266","names":{"fr":{"name":"Dystrophie musculaire des ceintures autosomique dominante type 1A","synonyms":["Dystrophie musculaire des ceintures par déficit en myotiline","LGMD1A"]},"de":{"name":"Gliedergürtelmuskeldystrophie, autosomal-dominante, Typ 1A","synonyms":["Gliedergürtelmuskeldystrophie durch Myotilin-Mangel","LGMD1A"]},"es":{"name":"Distrofia muscular de cinturas autosómica dominante tipo 1A","synonyms":["Distrofia muscular de cinturas por deficiencia de miotilina","LGMD1A"]},"it":{"name":"Distrofia muscolare dei cingoli, autosomica dominante, tipo 1A","synonyms":["Distrofia muscolare dei cingoli da deficit di miotilina","LGMD1A"]},"nl":{"name":"Autosomaal dominante limb-girdle-spierdystrofie type 1A","synonyms":["Autosomaal dominante bekken- en schoudergordel-spierdystrofie type 1A","Autosomaal dominante ledemaatgordel-spierdystrofie type 1A","LGMD1A","Limb-girdle-spierdystrofie door myotilinedeficiëntie"]},"pt":{"name":"Distrofia muscular das cinturas dos membros autossómica dominante tipo 1A","synonyms":["Distrofia muscular das cinturas dos membros por deficiência de miotilina"]},"pl":{"name":"Autosomalna recesywna dystrofia obręczowo-kończynowa typu 1A","synonyms":["Dystrofia obręczowo-kończynowa z powodu niedoboru miotiliny","LGMD1A"]},"cs":{"name":"Autozomálně dominantní pletencová svalová dystrofie, typ 1A","synonyms":["LGMD1A","Pletencová svalová dystrofie způsobená deficitem myotilinu"]},"uk":{"name":"Аутосомно-домінантна мязова дистрофія скелетних мязів кінцівок, тип 1А","synonyms":["LGMD1A","Мязова дистрофія скелетних мязів кінцівок внаслідок дефіциту міотиліну"],"definition":"A rare subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed."},"zh":{"name":"1A型常染色体显性遗传肢带肌营养不良","synonyms":["肌节蛋白所致所致肢带型肌营养不良症"]},"tr":{"name":"Otozomal dominant ekstremite kavşak tip kas distrofisi tip 1A","synonyms":["LGMD1A","Miyotilin eksikliğine bağlı ekstremite-kavşak tipi kas distrofisi"]}},"xrefs":[{"source":"UMLS","code":"C4304304","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10229","qualifier":"E","icd_relation":null,"validated":true}],"associations":[{"type":"Moved to","orpha":98911,"name":"Distal myotilinopathy"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}