{"orpha":140922,"name":"Titin-related limb-girdle muscular dystrophy R10","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive limb-girdle muscular dystrophy type 2J","LGMD type 2J","LGMD2J","Limb-girdle muscular dystrophy type 2J","Titin-related LGMD R10"],"definition":"A form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-140922/","orphanet_url":"https://www.orpha.net/en/disease/detail/140922","names":{"fr":{"name":"Dystrophie musculaire des ceintures liée à la titine R10","synonyms":["Dystrophie musculaire des ceintures autosomique récessive type 2J","Dystrophie musculaire des ceintures type 2J","LGMD liée à la titine R10","LGMD type 2J","LGMD2J"],"definition":"La dystrophie musculaire des ceintures autosomique récessive type 2J (LGMD2J) est une forme de dystrophie musculaire des ceintures caractérisée par une faiblesse proximale progressive sévère atteignant finalement les muscles distaux, et apparaissant habituellement pendant l'enfance. Elle peut aussi survenir entre la première et la troisième décennie. Certains patients restent ambulants, mais la plupart deviennent dépendants d'un fauteuil roulant vingt ans après l'apparition de la maladie."},"de":{"name":"Titin-assoziierte Gliedergürtelmuskeldystrophie R10","synonyms":["Gliedergürtelmuskeldystrophie Typ 2J","Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2J","LGMD Typ 2J","LGMD2J","Titin-assoziierte LGMD R10"],"definition":"Eine Form der Gliedergürtel-Muskeldystrophie, die in der Regel in der Kindheit beginnt (Manifesationsalter vom ersten bis dritten Lebensjahrzehnt). Sie ist gekennzeichnet durch eine schwere progressive proximale Schwäche, die schließlich auch die distalen Muskeln mit einbezieht. Einige Patienten können gehfähig bleiben, aber die meisten sind 20 Jahre nach Beginn der Erkrankung auf einen Rollstuhl angewiesen."},"es":{"name":"Distrofia muscular de cinturas R10 asociada a titina","synonyms":["Distrofia muscular de cinturas autosómica recesiva tipo 2J","LGMD2J"],"definition":"Es una forma de distrofia muscular de cinturas que, por lo habitual, se presenta en la infancia (aunque el inicio puede oscilar de la primera a la tercera década de vida) con una debilidad proximal grave progresiva, que puede terminar afectando también a los músculos distales. Algunos afectados mantienen la deambulación aunque la mayoría dependen de una silla de ruedas 20 años después de las primeras manifestaciones."},"it":{"name":"Distrofia muscolare dei cingoli, autosomica recessiva, tipo 2J","definition":"La distrofia muscolare dei cingoli autosomica recessiva tipo 2J (LGMD2J) è una forma di distrofia muscolare dei cingoli ad esordio per lo più nell'infanzia (anche se può insorgere tra la prima e la terza decade di vita), con debolezza prossimale grave e progressiva, che successivamente colpisce anche i muscoli distali. Alcuni pazienti mantengono la capacità di camminare, ma la maggior parte di essi è costretto alla sedia a rotelle nei 20 anni successivi all'esordio della malattia."},"nl":{"name":"Titine-gerelateerde limb-girdle-spierdystrofie R10","synonyms":["Autosomaal recessieve bekken- en schoudergordel-spierdystrofie type 2J","Autosomaal recessieve ledemaatgordel-spierdystrofie type 2J","Autosomaal recessieve limb-girdle-spierdystrofie type 2J","LGMD type 2J","LGMD2J","Limb-girdle-spierdystrofie type 2J","Titine-gerelateerde LGMD R10"],"definition":"Een vorm van limb-girdle-spierdystrofie met doorgaans aanvang in de kindertijd (maar gaande van het eerste tot derde levensdecennium) van ernstige, progressieve, proximale zwakte, die tenslotte ook distale spieren aantast. Sommige patiënten behouden hun loopvermogen maar de meesten zijn 20 jaar na aanvang van de ziekte afhankelijk van een rolstoel."},"pt":{"name":"Distrofia muscular das cinturas dos membros R10 Titin-relacionada","synonyms":["Distrofia muscular das cinturas dos membros autossómica recessiva tipo 2J"]},"pl":{"name":"Autosomalna recesywna dystrofia kończynowo-obręczowa typu 2J","synonyms":["LGMD2J"]},"cs":{"name":"Autozomálně recesivní pletencová svalová dystrofie, typ 2J","synonyms":["LGMD2J"]},"uk":{"name":"Титинозалежна мязова дистрофія скелетних мязів кінцівок R10","synonyms":["Аутосомно-рецесивна мязова дистрофія мязів пояса кінцівок, тип 2J","LGMD тип 2J","LGMD2J","Мязова дистрофія мязів поясу кінцівок, тип 2J","Титинозвязаний LGMD R10"],"definition":"A form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset."},"zh":{"name":"肢带肌萎缩症2J型","synonyms":["常染色体隐性遗传肢带肌萎缩症2J型"],"definition":"肢带型肌营养不良的一种，通常在儿童期（但也可在出生后十岁到三十岁）出现严重进行性近端无力，最终累及远端肌肉。有些病人仍可以走动，但大多数病人在发病20年后依赖于轮椅。"},"tr":{"name":"Titine bağlı ekstremite-kuşak kas distrofisi R10","synonyms":["LGMD2J","LGMD tipi 2J","Titin-ilişkili LGMD R10","Ekstremite-kavşak tipi kas distrofisi tip 2J","Otozomal Çekinik ekstremite-kavşak tipi kas distrofisi tip 2J"]}},"xrefs":[{"source":"OMIM","code":"608807","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0012127","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563854","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1837342","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":209053,"name":"Qualitative or quantitative defects of titin","classifications":[156]}],"children":[],"genes":[{"symbol":"TTN","name":"titin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301582[PMID]","hgnc":"12403","ensembl":"ENSG00000155657","omim":"188840","loci":["2q31.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"1745277[PMID]_1487757[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_1745277[PMID]_1487757[PMID]"}],"phenotypes":null}