{"entities":{"Q90418":{"pageid":80808,"ns":120,"title":"Item:Q90418","lastrevid":500998,"modified":"2026-08-15T17:23:33Z","type":"item","id":"Q90418","labels":{"mul":{"language":"mul","value":"ID_894802822"},"pt-br":{"language":"pt-br","value":"Doen\u00e7a de m\u00fasculo rippling"},"en":{"language":"en","value":"Rippling muscle disease"}},"descriptions":{"pt-br":{"language":"pt-br","value":"A irritabilidade muscular causa rigidez muscular, lentifica\u00e7\u00e3o dos movimentos ap\u00f3s o repouso, dor muscular induzida pelo exerc\u00edcio e sensa\u00e7\u00f5es semelhantes a c\u00e3ibras. Percuss\u00e3o nos m\u00fasculos evocam contra\u00e7\u00f5es r\u00e1pidas e o alongamento passivo induz contra\u00e7\u00f5es involunt\u00e1rias das fibras musculares dispostas mais \u00e0 superf\u00edcie muscular, dando o nome \u00e0 doen\u00e7a. A RMD geralmente tem um modo de heran\u00e7a autoss\u00f4mico dominante, mas casos espor\u00e1dicos tamb\u00e9m foram descritos. Estudos gen\u00e9ticos identificaram principalmente muta\u00e7\u00f5es de sentido incorreto no gene da caveolina-3 (CAV3) no cromossomo 1q42 que causam express\u00e3o reduzida de caveolina no sarcolema dos pacientes com RMD."},"en":{"language":"en","value":"Muscular irritability causes muscle stiffness, slowness of movements after rest, exercise-induced muscle pain, and cramp-like sensations. Taps on the muscles evoke rapid contractions, and passive stretching induce involuntary contractions of muscle fibres that roll over the muscle surface, giving the disease its name. RMD usually has an autosomal dominant mode of inheritance, but sporadic cases have also been described. Genetic studies have identified mostly missense mutations in the caveolin-3 gene (CAV3) on chromosome 1q42 that cause reduced expression of sarcolemmal caveolin in RMD."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"2aba1f0db48ba4bb3963e62cad53264efcde0910","datavalue":{"value":"https://id.who.int/icd/entity/894802822","type":"string"},"datatype":"url"},"type":"statement","id":"Q90418$7EE5DD06-623B-4551-A97B-7C405AEC2A89","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"b47a04e39ef5305e84e9256706f867bd2e52dd01","datavalue":{"value":"CID11:ID_894802822","type":"string"},"datatype":"string"},"type":"statement","id":"Q90418$9F9E4211-C324-4C8B-90F7-7CA43C18B99F","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"08b752fde10ca873aff39c39320941401ead3e78","datavalue":{"value":"dki-india-ID_894802822","type":"string"},"datatype":"string"},"type":"statement","id":"Q90418$2D700C96-65F6-4483-9B4D-89817B54DD61","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q90418$0FBF5E57-9F8E-42B4-B373-F628F16D9838","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":"Q90418$2D14FC81-DC5D-497B-8ED6-707BCEE58F95","rank":"normal"}],"P80":[{"mainsnak":{"snaktype":"value","property":"P80","hash":"92b8222fcbb75718504f915073a3f43bd4003d18","datavalue":{"value":{"time":"+2026-08-13T00:00:00Z","timezone":0,"before":0,"after":0,"precision":11,"calendarmodel":"http://www.wikidata.org/entity/Q1985727"},"type":"time"},"datatype":"time"},"type":"statement","id":"Q90418$98F3C486-5A22-490A-BE6E-ED5638B70124","rank":"normal"}]},"sitelinks":{}}}}