{"entities":{"Q96316":{"pageid":86709,"ns":120,"title":"Item:Q96316","lastrevid":543193,"modified":"2026-08-16T12:16:44Z","type":"item","id":"Q96316","labels":{"mul":{"language":"mul","value":"ID_1262541689"},"pt-br":{"language":"pt-br","value":"Ataxia espinocerebelar de in\u00edcio na inf\u00e2ncia"},"en":{"language":"en","value":"Infantile onset spinocerebellar ataxia"}},"descriptions":{"pt-br":{"language":"pt-br","value":"A ataxia espinocerebelar de in\u00edcio na inf\u00e2ncia (IOSCA) \u00e9 uma doen\u00e7a neurol\u00f3gica heredit\u00e1ria com envolvimento precoce e grave dos sistemas nervosos perif\u00e9rico e central. IOSCA \u00e9 caracterizado por ataxia muito precoce, atetose e redu\u00e7\u00e3o dos reflexos tendinosos (entre 9 e 18 meses de idade). A oftalmoplegia e a perda auditiva neurossensorial s\u00e3o diagnosticadas na inf\u00e2ncia. Outras caracter\u00edsticas, como atrofia \u00f3ptica e neuropatia sensorial com perda progressiva de fibras mielinizadas no nervo sural, aparecem mais tarde no curso da doen\u00e7a. O hipogonadismo pode ocorrer em mulheres. Alguns pacientes apresentam d\u00e9ficit intelectual. A epilepsia \u00e9 uma manifesta\u00e7\u00e3o tardia e as convuls\u00f5es podem ser fatais."},"en":{"language":"en","value":"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. IOSCA is characterised by very early ataxia, athetosis and reduced tendon reflexes (between 9 and 18 months of age). Ophthalmoplegia and sensorineural hearing loss are diagnosed in childhood. Other features, such as optic atrophy and sensory neuropathy with progressive loss of myelinated fibres in the sural nerve, appear later in the disease course. Hypogonadism may occur in females. Some patients show intellectual deficit. Epilepsy is a late manifestation and seizures may be life-threatening."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"e6cf7d608c2da77ea1e0a41de3daf4ba5737d7c8","datavalue":{"value":"https://id.who.int/icd/entity/1262541689","type":"string"},"datatype":"url"},"type":"statement","id":"Q96316$2FBB3A43-60DE-4AF9-9F0E-2BA0C816D63F","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"2786e0ef95ce200bc1d05fc3f6735da81079ed5f","datavalue":{"value":"CID11:ID_1262541689","type":"string"},"datatype":"string"},"type":"statement","id":"Q96316$65A592C9-7252-4ECF-8776-DD40133BA275","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"f243203ca8ae59f7141161d5fcd89a0e1635f2df","datavalue":{"value":"dki-india-ID_1262541689","type":"string"},"datatype":"string"},"type":"statement","id":"Q96316$F7056921-F2B2-4557-B631-5CD2576C5244","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q96316$7B427332-9507-487C-A610-45B5DF0230DF","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":"Q96316$0F3E36A0-A7C1-48EB-974C-13752D53B689","rank":"normal"}],"P80":[{"mainsnak":{"snaktype":"value","property":"P80","hash":"378ac503ed43f21e1f461d2823a6ad59da580514","datavalue":{"value":{"time":"+2026-08-15T00:00:00Z","timezone":0,"before":0,"after":0,"precision":11,"calendarmodel":"http://www.wikidata.org/entity/Q1985727"},"type":"time"},"datatype":"time"},"type":"statement","id":"Q96316$C60A8B18-73A9-4D6F-8105-959E2F318282","rank":"normal"}]},"sitelinks":{}}}}