{"entities":{"Q99659":{"pageid":90052,"ns":120,"title":"Item:Q99659","lastrevid":567381,"modified":"2026-08-16T16:20:01Z","type":"item","id":"Q99659","labels":{"mul":{"language":"mul","value":"ID_1143673207"},"pt-br":{"language":"pt-br","value":"Distonia dopa-responsiva autoss\u00f4mica dominante"},"en":{"language":"en","value":"Autosomal dominant dopa-responsive dystonia"}},"descriptions":{"pt-br":{"language":"pt-br","value":"Este transtorno envolve contra\u00e7\u00f5es musculares involunt\u00e1rias, tremores e outros movimentos descontrolados (distonia). Os pacientes costumam ter flutua\u00e7\u00f5es diurnas com piora \u00e0 tarde e melhora pela manh\u00e3. O parkinsonismo pode ocorrer em pessoas mais velhas da fam\u00edlia. \u00c9 herdada de forma autoss\u00f4mica dominante e costuma responder ao tratamento com L-Dopa. \u00c9 tamb\u00e9m chamada de doen\u00e7a de Segawa. Ocorre devido a uma muta\u00e7\u00e3o no gene GTP ciclo-hidrolase, ou \u00e0s vezes devido a varia\u00e7\u00f5es em outros genes."},"en":{"language":"en","value":"This disorder involves involuntary muscle contractions, tremors, and other uncontrolled movements (dystonia). Patients often have diurnal fluctuations with worsening in the afternoon and improvement in the morning. Parikinsonism may occur in older individuals in the family. It is inherited in an autosomal dominant fashion and is often responsive to treatment with L-Dopa, also called Segawa Disease. It is due to a mutation in the GTP Cyclohydrolase gene, sometimes due to variations in other genes."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"0c1555355b01b5833585b8ac413e47adb1a07216","datavalue":{"value":"https://id.who.int/icd/entity/1143673207","type":"string"},"datatype":"url"},"type":"statement","id":"Q99659$C187A3B0-0636-4D33-81A1-FD27BC0318A4","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"63f6fc3621350baace141792a0c99938bfdfa5a8","datavalue":{"value":"CID11:ID_1143673207","type":"string"},"datatype":"string"},"type":"statement","id":"Q99659$B8188371-D7C4-4E8F-AEFB-876009A08CBA","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"55a8342c6ba19473455a0f13a7d352f0ba490aee","datavalue":{"value":"dki-india-ID_1143673207","type":"string"},"datatype":"string"},"type":"statement","id":"Q99659$7027D434-E032-496F-B54E-8D3A521FF6EF","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q99659$F5A6DFDD-9B1F-4484-BCC9-3C110DA9D69F","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":"Q99659$2B971392-AF4B-43AE-AD1E-53347C71F303","rank":"normal"}],"P80":[{"mainsnak":{"snaktype":"value","property":"P80","hash":"378ac503ed43f21e1f461d2823a6ad59da580514","datavalue":{"value":{"time":"+2026-08-15T00:00:00Z","timezone":0,"before":0,"after":0,"precision":11,"calendarmodel":"http://www.wikidata.org/entity/Q1985727"},"type":"time"},"datatype":"time"},"type":"statement","id":"Q99659$AB0C137A-00EE-477B-8BC9-BE7D9138171D","rank":"normal"}]},"sitelinks":{}}}}