{"entities":{"Q94763":{"pageid":85156,"ns":120,"title":"Item:Q94763","lastrevid":532035,"modified":"2026-08-16T10:10:58Z","type":"item","id":"Q94763","labels":{"mul":{"language":"mul","value":"ID_1972433873"},"pt-br":{"language":"pt-br","value":"Transtornos dos canais de cloreto"},"en":{"language":"en","value":"Chloride channel disorders"}},"descriptions":{"pt-br":{"language":"pt-br","value":"Muta\u00e7\u00f5es nos canais de cloreto (CLCN1) causam miotonia cong\u00eanita, uma doen\u00e7a muscular n\u00e3o distr\u00f3fica. T\u00eam sido descritos os tipos autoss\u00f3mico dominante (doen\u00e7a de Thomsen) e recessivo (doen\u00e7a de Becker). A miotonia geralmente come\u00e7a na primeira ou segunda d\u00e9cada de vida, com os homens mais gravemente afetados do que as mulheres. Os pacientes classicamente t\u00eam uma estrutura muscular hipertr\u00f3fica e experimentam uma melhora caracter\u00edstica da miotonia com exerc\u00edcios (\u201caquecimento\u201d). Praticamente todos os pacientes relatam rigidez, com dores musculares e fadiga afetando a qualidade de vida"},"en":{"language":"en","value":"Mutations in chloride channels (CLCN1) cause myotonia congenita, a non-dystrophic muscle diseases. Both autosomal dominant (Thomsen disease) and recessive (Becker disease) types have been described. Myotonia usually begins in the first or second decade of life, with men more severely affected than women. Patients classically have a hypertrophic, muscular build and experience a characteristic improvement in myotonia with exercise (\u201cwarm-up\u201d). Virtually all patients report stiffness, with muscle pain and fatigue affecting quality of life"}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"224400f26cb939082750d25abf0fac2b51a3a027","datavalue":{"value":"https://id.who.int/icd/entity/1972433873","type":"string"},"datatype":"url"},"type":"statement","id":"Q94763$708E5A61-7DD8-4613-9036-65CCCDF0CB45","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"5ad8f51b489df577665b74422e7bcefe41ec509d","datavalue":{"value":"CID11:ID_1972433873","type":"string"},"datatype":"string"},"type":"statement","id":"Q94763$FC45CB03-F9C2-435A-976D-89904C0E7D00","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"24b1bfa07b69a7f748556636e320c2f202d81f84","datavalue":{"value":"dki-india-ID_1972433873","type":"string"},"datatype":"string"},"type":"statement","id":"Q94763$F06E3F3A-D4E5-4DF2-BCB8-BA5CB8A09C72","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q94763$A1DAE809-7D4D-49EB-B4ED-62A9E8438BBF","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":"Q94763$7C5FF45E-E852-4AED-8E47-BE83E8E2D5EA","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":"Q94763$40EF77C0-E045-41B3-B78A-23FC50983E25","rank":"normal"}]},"sitelinks":{}}}}