{"entities":{"Q105008":{"pageid":95406,"ns":120,"title":"Item:Q105008","lastrevid":606099,"modified":"2026-08-17T10:54:47Z","type":"item","id":"Q105008","labels":{"mul":{"language":"mul","value":"ID_1205775957"},"pt-br":{"language":"pt-br","value":"Atrofia muscular espinal proximal autoss\u00f4mica dominante, in\u00edcio na inf\u00e2ncia"},"en":{"language":"en","value":"Autosomal dominant proximal spinal muscular atrophy, childhood-onset"}},"descriptions":{"pt-br":{"language":"pt-br","value":"Pacientes com atrofia muscular espinal proximal autoss\u00f4mica dominante de in\u00edcio na inf\u00e2ncia apresentam fraqueza dos membros inferiores proximais por volta dos 2 anos de idade. Fraqueza e atrofia s\u00e3o mais proeminentes nos quadr\u00edceps e adutores do quadril, com fraqueza leve de outros m\u00fasculos dos membros inferiores. A fraqueza permanece est\u00e1tica ou muito lentamente progressiva. \u00c9 causada por muta\u00e7\u00f5es heterozigotas no gene DYNC1H1 (14q32.31)."},"en":{"language":"en","value":"Patients with childhood-onset autosomal dominant proximal spinal muscular atrophy present with proximal lower limb weakness around the age of 2. Weakness and atrophy are most prominent in the quadriceps and hip adductors, with mild weakness of other lower limb muscles. Weakness remains static or very slowly progressive. It is caused by heterozygous mutations in the DYNC1H1 gene (14q32.31)."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"a979a5f08b289f9417641c5d8b47c15f5627f68a","datavalue":{"value":"https://id.who.int/icd/entity/1205775957","type":"string"},"datatype":"url"},"type":"statement","id":"Q105008$10EDD0A9-CF82-439A-BF57-95DC8AA4A3BD","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"bcc09ddcb0f8fae73a2614734de5faa10a0b5bc3","datavalue":{"value":"CID11:ID_1205775957","type":"string"},"datatype":"string"},"type":"statement","id":"Q105008$64FE871B-F0F1-4969-952B-B81399F3D632","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"1f430a4cf73fb1437f91900153125c693aadcdba","datavalue":{"value":"dki-india-ID_1205775957","type":"string"},"datatype":"string"},"type":"statement","id":"Q105008$0E04C03F-2BD3-4112-A3EA-7A8E691C7CAC","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q105008$8E92DB33-D428-41EC-A8BE-C4362CE0AD57","rank":"normal"}],"P78":[{"mainsnak":{"snaktype":"value","property":"P78","hash":"5f9b5be68b7400da549761cf15abfdbc4d1e075b","datavalue":{"value":"https://pauloleads.com.br/cases-publicos/","type":"string"},"datatype":"url"},"type":"statement","id":"Q105008$61EADC2A-F640-4277-A3F0-9407C915636D","rank":"normal"}],"P80":[{"mainsnak":{"snaktype":"value","property":"P80","hash":"8612011b2ca718e4ec0db5a49d2de6d25b2e811c","datavalue":{"value":{"time":"+2026-08-16T00:00:00Z","timezone":0,"before":0,"after":0,"precision":11,"calendarmodel":"http://www.wikidata.org/entity/Q1985727"},"type":"time"},"datatype":"time"},"type":"statement","id":"Q105008$5EA10209-AD68-48D4-8813-FF07303ADDBF","rank":"normal"}]},"sitelinks":{}}}}