{"entities":{"Q41392":{"pageid":31760,"ns":120,"title":"Item:Q41392","lastrevid":137760,"modified":"2026-08-13T07:32:51Z","type":"item","id":"Q41392","labels":{"mul":{"language":"mul","value":"8C71.2"},"pt-br":{"language":"pt-br","value":"Miotonia cong\u00eanita"},"en":{"language":"en","value":"Myotonia congenita"}},"descriptions":{"pt-br":{"language":"pt-br","value":"As doen\u00e7as de Thomsen e Becker s\u00e3o transtornos miot\u00f4nicos caracterizados por relaxamento muscular lento associado a hiperexcita\u00e7\u00e3o das fibras musculares ocorrendo nos primeiros meses ap\u00f3s o nascimento. A miotonia \u00e9 incomum, pois \u00e9 aliviada com exerc\u00edcios (efeito de aquecimento). A miotonia cong\u00eanita autoss\u00f4mica dominante (doen\u00e7a de Thomsen) \u00e9 um transtorno muscular n\u00e3o distr\u00f3fico causado por muta\u00e7\u00e3o no gene que codifica o canal 1 de cloreto do m\u00fasculo esquel\u00e9tico (CLCN1). \u00c9 clinicamente caracterizado por rigidez muscular e uma incapacidade do m\u00fasculo para relaxar ap\u00f3s a contra\u00e7\u00e3o volunt\u00e1ria. A miotonia cong\u00eanita autoss\u00f4mica recessiva (doen\u00e7a de Becker) \u00e9 causada por muta\u00e7\u00e3o no gene que codifica o canal 1 de cloreto do m\u00fasculo esquel\u00e9tico (CLCN1). \u00c9 um transtorno n\u00e3o distr\u00f3fico do m\u00fasculo esquel\u00e9tico caracterizado por rigidez muscular e uma incapacidade do m\u00fasculo para relaxar ap\u00f3s a contra\u00e7\u00e3o volunt\u00e1ria. A maioria dos pacientes tem in\u00edcio dos sintomas nas pernas, que mais tarde progride para bra\u00e7os, pesco\u00e7o e m\u00fasculos faciais. Muitos pacientes apresentam hipertrofia acentuada dos m\u00fasculos dos membros inferiores. A fraqueza muscular transit\u00f3ria \u00e9 uma manifesta\u00e7\u00e3o caracter\u00edstica."},"en":{"language":"en","value":"Thomsen and Becker disease are myotonic disorders characterised by slow muscle relaxation associated with hyperexcitation of the muscle fibres occurring within the first few months after birth. The myotonia is unusual in that it is relieved by exercise (warm-up effect). Autosomal dominant myotonia congenita (Thomsen disease) is a non-dystrophic muscle disorder caused by mutation in the gene encoding skeletal muscle chloride channel-1 (CLCN1). It is clinically characterised by muscle stiffness and an inability of the muscle to relax after voluntary contraction. Autosomal recessive myotonia congenita (Becker disease) is caused by mutation in the gene encoding skeletal muscle chloride channel-1 (CLCN1). It is a non-dystrophic skeletal muscle disorder characterised by muscle stiffness and an inability of the muscle to relax after voluntary contraction. Most patients have symptom onset in the legs, which later progresses to the arms, neck, and facial muscles. Many patients show marked hypertrophy of the lower limb muscles. Transient muscle weakness is a characteristic feature."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"c5c1ada87aeeb55380f0793d307d6070452dab98","datavalue":{"value":"https://id.who.int/icd/entity/1916703439","type":"string"},"datatype":"url"},"type":"statement","id":"Q41392$721E886C-CDD2-4036-B204-15CA1371566E","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"e787aea9514678d504ba1abb4944c54db235d34a","datavalue":{"value":"CID11:8C71.2","type":"string"},"datatype":"string"},"type":"statement","id":"Q41392$71EE9EA4-BBE1-4C6D-A8D7-290A207CF919","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"b3b57ae1134afc513989798d0f8a248e3618d454","datavalue":{"value":"dki-india-8C71.2","type":"string"},"datatype":"string"},"type":"statement","id":"Q41392$A8599776-186B-47B9-9F7C-F93EDA2F7D78","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q41392$365BA8E5-B88D-4323-8B16-43709BE1CB5F","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":"Q41392$9130D68B-34FB-4C5D-88AF-2198AAF87C08","rank":"normal"}],"P80":[{"mainsnak":{"snaktype":"value","property":"P80","hash":"92b8222fcbb75718504f915073a3f43bd4003d18","datavalue":{"value":{"time":"+2026-08-13T00:00:00Z","timezone":0,"before":0,"after":0,"precision":11,"calendarmodel":"http://www.wikidata.org/entity/Q1985727"},"type":"time"},"datatype":"time"},"type":"statement","id":"Q41392$B9F6456A-0D40-4CA6-8D32-8C1076C28297","rank":"normal"}],"P89":[{"mainsnak":{"snaktype":"value","property":"P89","hash":"e1b713d1aee9878f927228efdab4c66c06611ce7","datavalue":{"value":{"entity-type":"item","numeric-id":17303,"id":"Q17303"},"type":"wikibase-entityid"},"datatype":"wikibase-item"},"type":"statement","id":"Q41392$C7A1B40D-11DB-424B-9DA5-48046ED805F5","rank":"normal"}]},"sitelinks":{}}}}