{"orpha":424261,"name":"TOR1AIP1-related limb-girdle muscular dystrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive limb-girdle muscular dystrophy type 2Y","Autosomal recessive muscular dystrophy due to LAP1B deficiency","Autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency","LGMD type 2Y","LGMD2Y","Muscular dystrophy with progressive weakness, distal contractures and rigid spine","TOR1AIP1-related LGMD"],"definition":"A form of limb-girdle muscular dystrophy, presenting in the first or second decades of life, characterized by slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function, and mild cardiomyopathy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-424261/","orphanet_url":"https://www.orpha.net/en/disease/detail/424261","names":{"fr":{"name":"Dystrophie musculaire des ceintures associée à TOR1AIP1","synonyms":["Dystrophie musculaire des ceintures autosomique récessive avec une atrophie musculaire distale","Dystrophie musculaire des ceintures autosomique récessive par déficit en LAP1B","Dystrophie musculaire des ceintures autosomique récessive par déficit en Torsin-1A-interacting protein 1","Dystrophie musculaire des ceintures autosomique récessive type 2Y","LGMD associée à TOR1AIP1","LGMD type 2Y","LGMD2Y"],"definition":"La dystrophie musculaire des ceintures autosomique récessive type 2Y est une forme de dystrophie musculaire des ceintures, se manifestant au cours de la première ou de la deuxième décennie. Elle se caractérise par une faiblesse et une atrophie musculaires distales et proximales, lentement progressives. Les signes additionnels incluent des contractions des articulations interphalangiennes proximales et distales de la main, une colonne vertébrale rigide, une fonction pulmonaire limitée et une légère cardiomyopathie."},"de":{"name":"Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2Y","synonyms":["LGMD2Y","Muskeldystrophie mit progressiver Schwäche, distalen Kontrakturen und starrer Wirbelsäule","Muskeldystrophie, autosomal-rezessive, durch LAP1B-Mangel","Muskeldystrophie, autosomal-rezessive, durch Torsion-1A-interagierendes Protein 1-Mangel"],"definition":"Eine Form der Gliedergürtel-Muskeldystrophie, die in den ersten oder zweiten Lebensjahrzehnten auftritt und durch langsam fortschreitende proximale und distale Muskelschwäche und -atrophie gekennzeichnet ist. Weitere Manifestationen sind Kontrakturen der proximalen und distalen Interphalangealgelenke der Hände, eine starre Wirbelsäule, eine eingeschränkte Lungenfunktion und eine leichte Kardiomyopathie."},"es":{"name":"Distrofia muscular de cinturas autosómica recesiva tipo 2Y","synonyms":["Distrofia muscular autosómica recesiva por deficiencia de LAP1B","Distrofia muscular autosómica recesiva por deficiencia de la proteína 1 de interacción torsina-1A","Distrofia muscular con debilidad progresiva, contracturas distales y columna vertebral rígida","LGMD2Y"],"definition":"Es una forma de distrofia muscular de cinturas que se presenta en la primera o segunda década de vida caracterizada por debilidad muscular y atrofia distal y proximal lentamente progresivas. Otras manifestaciones adicionales incluyen contracturas de las articulaciones interfalángicas proximales y distales de las manos, columna vertebral rígida, restricción de la función pulmonar y leve miocardiopatía."},"it":{"name":"Distrofia muscolare dei cingoli autosomica recessiva, tipo 2Y","synonyms":["Distrofia muscolare autosomica recessiva da deficit di LAP1B","Distrofia muscolare autosomica recessiva da deficit di Tor1AIP1","Distrofia muscolare con debolezza progressiva, contratture distali e rigidità della colonna vertebrale","LGMD2Y"],"definition":"La distrofia muscolare dei cingoli autosomica recessiva tipo 2Y è una forma di distrofia dei cingoli, che esordisce nella prima o seconda decade di vita ed è caratterizzata da debolezza e atrofia dei muscoli prossimali e distali a progressione lenta. Altri segni sono le contratture delle articolazioni interfalangee prossimali e distali delle mani a progressione lenta, la rigidità della colonna vertebrale, la funzione polmonare limitata e la lieve cardiomiopatia."},"nl":{"name":"Autosomaal recessieve limb-girdle-spierdystrofie type 2Y","synonyms":["Autosomaal recessieve bekken- en schoudergordel-spierdystrofie type 2Y","Autosomaal recessieve ledemaatgordel-spierdystrofie type 2Y","Autosomaal recessieve spierdystrofie door LAP1B-deficiëntie","Autosomaal recessieve spierdystrofie door Torsine-1A-interagerend proteïne 1-deficiëntie","LGMD type 2Y","LGMD2Y","Spierdystrofie met progressieve zwakte, distale contracturen en rigide wervelkolom","TOR1AIP1-gerelateerde LGMD"],"definition":"Een vorm van limb-girdle-spierdystrofie die zich voordoet tijdens het eerste of tweede levensdecennium, en die gekarakteriseerd wordt door traag progressieve zwakte en atrofie van proximale en distale spieren. Bijkomende manifestaties zijn onder meer contracturen van proximale en distale interfalangeale handgewrichten, stijve wervelkolom, beperkte longfunctie, en milde cardiomyopathie."},"pt":{"name":"Distrofia muscular das cinturas dos membros TOR1AIP1-relacionada","synonyms":["Distrofia muscular com fraqueza progressiva, contracturas distais e coluna vertebral rígida"]},"pl":{"name":"Autosomalna recesywna dystrofia obręczowo-kończynowa typu 2Y","synonyms":["LGMD2Y","Autosomalna recesywna dystrofia mięśniowa z powodu niedoboru LAP1B","Dystrofia mięśniowa z postępującym osłabieniem, przykurczami dalszych części kończyn i sztywnym kręgosłupem","Autosomalna recesywna dystrofia mięśniowa z powodu niedoboru białka torsyny 1A"]},"cs":{"name":"Autozomálně recesivní pletencová svalová dystrofie, typ 2Y","synonyms":["Autozomálně recesivní svalová dystrofie způsobená deficitem LAP1B","Autozomálně recesivní svalová dystrofie způsobená deficitem Torsin-1A-interagujícího proteinu"]},"uk":{"name":"TOR1AIP1-асоційована кінцівково-поясна мязова дистрофія","synonyms":["Аутосомно-рецесивна мязова дистрофія мязів кінцівок, тип 2Y","Аутосомно-рецесивна мязова дистрофія внаслідок дефіциту LAP1B","Аутосомно-рецесивна мязова дистрофія, зумовлена дефіцитом білка 1, що взаємодіє з торсином-1А","LGMD тип 2Y","LGMD2Y","Мязова дистрофія з прогресуючою слабкістю, дистальними контрактурами та ригідним хребтом","LGMD, повязана з TOR1AIP1"],"definition":"A form of limb-girdle muscular dystrophy, presenting in the first or second decades of life, characterized by slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function, and mild cardiomyopathy."},"zh":{"name":"TOR1AIP1相关肢带肌营养不良","synonyms":["Torsin-1A反应蛋白1缺乏导致的常染色体隐性肌营养不良症"],"definition":"一种肢带型肌营养不良症，出现在10-20岁，以缓慢进行的近端和远端肌无力和萎缩为特征。其他表现包括近端和远端指间手关节挛缩、脊柱僵硬、肺功能受限和轻度心肌病。"},"tr":{"name":"TOR1AIP1 -ilişkili (lgmd) ekstremite kavşak tip kas distrofisi","synonyms":["LGMD2Y","LGMD tip 2Y","TOR1AIP1-ilişkili LGMD","Otozomal Çekinik ekstremite-kavşak tipi kas distrofisi tip 2Y","LAP1B eksikliğine bağlı otozomal çekinik müsküler distrofi","İlerleyici güçsüzlük, distal kontraktürler ve sert omurga ile seyreden kas distrofisi","Torsin-1A ile etkileşen protein 1 eksikliğine bağlı otozomal çekinik kas distrofisi"]}},"xrefs":[{"source":"OMIM","code":"617072","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014900","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4511482","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":102015,"name":"Autosomal recessive limb-girdle muscular dystrophy","classifications":[156,181]},{"orpha":424925,"name":"Qualitative or quantitative defects of Torsin-1A-interacting protein 1","classifications":[156]}],"children":[],"genes":[{"symbol":"TOR1AIP1","name":"torsin 1A interacting protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24856141[PMID]","hgnc":"29456","ensembl":"ENSG00000143337","omim":"614512","loci":["1q25.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"24856141[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24856141[PMID]"}],"phenotypes":null}