{"orpha":363447,"name":"Autosomal dominant childhood-onset proximal spinal muscular atrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy","SMALED"],"definition":"A rare genetic neuromuscular disease characterized by early onset muscular weakness with predominant proximal lower limb involvement. The disorder is static or only mildly progressive. The severity of manifestations ranges from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-363447/","orphanet_url":"https://www.orpha.net/en/disease/detail/363447","names":{"fr":{"name":"Amyotrophie spinale proximale autosomique dominante de l'enfance","synonyms":["Amyotrophie spinale proximale autosomique dominante de l'enfance avec prédominance des membres inférieurs","SMALED"],"definition":"Maladie neuromusculaire génétique rare caractérisée par une faiblesse musculaire précoce avec une atteinte prédominante des muscles proximaux des membres inférieurs. La maladie évolue lentement et progresse par paliers. La sévérité des signes cliniques est variable, allant d'une atrophie musculaire congénitale létale avec une arthrogrypose à des formes asymptomatiques accompagnées de signes subcliniques."},"de":{"name":"Proximale spinale Muskelatrophie mit Beginn im Kindesalter, autosomal-dominant","synonyms":["Proximale spinale Muskelatrophie vorwiegend der unteren Extremitäten, autosomal-dominant","SMALED"],"definition":"Eine seltene genetisch bedingte neuromuskuläre Erkrankung, die durch eine früh einsetzende Muskelschwäche mit vorherrschender Beteiligung der proximalen unteren Gliedmaßen gekennzeichnet ist. Die Störung ist statisch oder nur leicht progredient. Der Schweregrad der Manifestationen reicht von tödlicher, kongenitaler Muskelatrophie mit Arthrogrypose bis hin zu asymptomatischen, subklinischen Merkmalen."},"es":{"name":"Atrofia muscular espinal proximal autosómica dominante de inicio en la infancia","synonyms":["Atrofia muscular espinal proximal autosómica dominante con predominancia de las extremidades inferiores","SMALED"],"definition":"Es una enfermedad neuromuscular genética poco frecuente caracterizada por debilidad muscular de inicio temprano con afectación predominante de las extremidades inferiores a nivel proximal. El trastorno es estático o solo levemente progresivo. La gravedad de las manifestaciones varía desde atrofia muscular congénita letal con artrogriposis hasta formas asintomáticas con características subclínicas."},"it":{"name":"Atrofia muscolare spinale prossimale autosomica dominante ad esordio nell'infanzia","synonyms":["Atrofia muscolare spinale prossimale, autosomica dominante, con coinvolgimento prevalente degli arti inferiori","SMALED"],"definition":"Si tratta di una malattia neuromuscolare genetica rara, caratterizzata da debolezza muscolare ad esordio precoce che interessa prevalentemente la porzione prossimale degli arti inferiori. La malattia non è progressiva o è solo lievemente progressiva. La gravità varia tra l'atrofia muscolare congenita letale con artrogriposi e i quadri asintomatici non percepiti a livello clinico."},"nl":{"name":"Autosomaal dominante proximale spinale spieratrofie met aanvang in de kindertijd","synonyms":["SMALED","Autosomaal dominante proximale spinale spieratrofie van overwegend onderste ledematen"],"definition":"Een zeldzame, genetische neuromusculaire aandoening, gekarakteriseerd door vroeg optredende spierzwakte met vooral betrokkenheid van proximale onderste ledematen. De aandoening is statisch of slechts mild progressief. De ernst van manifestaties gaat van letale, congenitale spieratrofie met artrogrypose tot asymptomatisch met subklinische kenmerken."},"pt":{"name":"Atrofia muscular espinhal proximal autossómica dominante de início na infância"},"pl":{"name":"Autosomalny dominujący proksymalny rdzeniowy zanik mieśni o początku w wieku dziecięcym","synonyms":["Autosomalny dominujący proksymalny rdzeniowy zanik mieśni dominujący w kończynach dolnych","SMALED"]},"cs":{"name":"Autozomálně dominantní proximální spinální svalová atrofie s nástupem v dětství","synonyms":["SMALED","Autozomálně dominantní proximální spinální svalová atrofie, predominantně na dolních končetinách"]},"uk":{"name":"Аутосомно-домінантна проксимальна спінальна мязова атрофія, що починається в дитячому віці","synonyms":["Аутосомно-домінантна проксимальна спінальна мязова атрофія з переважним ураженням нижніх кінцівок","SMALED"],"definition":"A rare genetic neuromuscular disease characterized by early onset muscular weakness with predominant proximal lower limb involvement. The disorder is static or only mildly progressive. The severity of manifestations ranges from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features."},"zh":{"name":"儿童起病常染色体显性近端脊髓性肌萎缩症","synonyms":["下肢为主的常染色体显性遗传性近端脊髓肌萎缩症"],"definition":"本病是一种罕见的遗传性神经肌肉疾病，其特征为近端下肢受累为主的早发性肌肉无力。本病呈静态性，或轻微进行性。临床表现的严重程度从致命的先天性肌萎缩症伴关节强直到无症状的亚临床特征不等。"},"tr":{"name":"Otozomal dominant çocukluk çağında başlayan proksimal spinal kas atrofisi","synonyms":["SMALED","Alt ekstremite baskın otozomal dominant proksimal spinal kas atrofi"]}},"xrefs":[{"source":"OMIM","code":"158600","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615290","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G12.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8B61.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1205775957"},{"source":"MONDO","code":"0018190","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1834690","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":211037,"name":"Autosomal dominant proximal spinal muscular atrophy","classifications":[156,181]}],"children":[{"orpha":363454,"name":"BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy","type":"Etiological subtype"},{"orpha":209341,"name":"DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"BICD2","name":"BICD cargo adaptor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23664119[PMID]","hgnc":"17208","ensembl":"ENSG00000185963","omim":"609797","loci":["9q22.31"],"via":{"orpha":363454,"name":"BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy"}},{"symbol":"DYNC1H1","name":"dynein cytoplasmic 1 heavy chain 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22459677[PMID]","hgnc":"2961","ensembl":"ENSG00000197102","omim":"600112","loci":["14q32.31"],"via":{"orpha":209341,"name":"DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy"}}],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Antenatal","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20697106[PMID]_22459677[PMID]_22847149[PMID]_26594138[PMID]_26998597[PMID]_27784775[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":97.0,"area":"Worldwide","status":"Validated","source":"20697106[PMID]_22459677[PMID]_22847149[PMID]_26594138[PMID]_26998597[PMID]_27784775[PMID]"}],"phenotypes":null}