{"entities":{"Q103452":{"pageid":93850,"ns":120,"title":"Item:Q103452","lastrevid":594873,"modified":"2026-08-17T09:13:03Z","type":"item","id":"Q103452","labels":{"mul":{"language":"mul","value":"ID_741190474"},"pt-br":{"language":"pt-br","value":"Atrofia muscular espinal distal benigna autoss\u00f4mica dominante"},"en":{"language":"en","value":"Autosomal dominant benign distal spinal muscular atrophy"}},"descriptions":{"pt-br":{"language":"pt-br","value":"Pacientes com atrofia muscular espinal distal benigna autoss\u00f4mica dominante apresentam fraqueza do neur\u00f4nio motor inferior do membro inferior. A fraqueza \u00e9 cong\u00eanita e pode ser observada artrogripose, sugerindo in\u00edcio intrauterino. A gravidade da fraqueza varia dentro das fam\u00edlias. A fraqueza normalmente n\u00e3o \u00e9 progressiva. A doen\u00e7a \u00e9 causada por muta\u00e7\u00f5es no gene TRPV4 (12q24.11)."},"en":{"language":"en","value":"Patients with autosomal dominant benign distal spinal muscular atrophy present with lower motor neuron weakness of the lower limb. Weakness is congenital, and arthrogryposis may be observed, suggesting intrauterine onset. Severity of weakness varies within families. Weakness is typically non-progressive. The disease is caused by mutations in the TRPV4 gene (12q24.11)."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"750fdddccae09967aefac12ada7e6fd75d681af0","datavalue":{"value":"https://id.who.int/icd/entity/741190474","type":"string"},"datatype":"url"},"type":"statement","id":"Q103452$842431DF-4532-4A9B-B44B-2A874A9A39BE","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"1dc61e889b474407dfb32a93146d9f49415a9891","datavalue":{"value":"CID11:ID_741190474","type":"string"},"datatype":"string"},"type":"statement","id":"Q103452$0943D0AA-90AE-44F3-ABB0-AA1D18E2B616","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"1b90b25906e5c8bbb65c15a7c9a67e3d9a34bf2f","datavalue":{"value":"dki-india-ID_741190474","type":"string"},"datatype":"string"},"type":"statement","id":"Q103452$4E7E6F0C-637F-41F3-8F3C-C9D9E03EA438","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q103452$7B3D56C0-88CD-4F91-868D-D8665C8A7CC8","rank":"normal"}],"P78":[{"mainsnak":{"snaktype":"value","property":"P78","hash":"5f9b5be68b7400da549761cf15abfdbc4d1e075b","datavalue":{"value":"https://pauloleads.com.br/cases-publicos/","type":"string"},"datatype":"url"},"type":"statement","id":"Q103452$DE9CA043-693E-4B4E-9A1F-40C28D3A8D32","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":"Q103452$FDE836CB-3207-439B-B4B4-3BF7332A4D0C","rank":"normal"}]},"sitelinks":{}}}}