{"entities":{"Q89056":{"pageid":79441,"ns":120,"title":"Item:Q89056","lastrevid":491088,"modified":"2026-08-15T15:30:37Z","type":"item","id":"Q89056","labels":{"mul":{"language":"mul","value":"ID_439347096"},"pt-br":{"language":"pt-br","value":"Myotonia congenita, recessiva"},"en":{"language":"en","value":"Myotonia congenita, recessive"}},"descriptions":{"pt-br":{"language":"pt-br","value":"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 do m\u00fasculo esquel\u00e9tico n\u00e3o distr\u00f3fico 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 os bra\u00e7os, pesco\u00e7o e m\u00fasculos faciais. Muitos pacientes apresentam hipertrofia acentuada dos m\u00fasculos dos membros inferiores. Alguns pacientes apresentam fraqueza muscular transit\u00f3ria."},"en":{"language":"en","value":"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. Some patients show transient muscle weakness."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"d0cb683ea6be4a35f9fe54a4efec82ad4b1b74aa","datavalue":{"value":"https://id.who.int/icd/entity/439347096","type":"string"},"datatype":"url"},"type":"statement","id":"Q89056$7A7A8096-9A80-4D0D-996B-D58B568A5D06","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"05994194aa1e440cbd94f2f4d1b76dfc142ca613","datavalue":{"value":"CID11:ID_439347096","type":"string"},"datatype":"string"},"type":"statement","id":"Q89056$FB246AB3-2C0B-487E-ADF9-E9506C7D5AB8","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"d1daf41d1d726715db842849f1c5d55556dd5685","datavalue":{"value":"dki-india-ID_439347096","type":"string"},"datatype":"string"},"type":"statement","id":"Q89056$7101F935-AA1F-48EA-A5F9-31B524DCE5FB","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q89056$5419091F-C7B4-48F9-9AD0-2309F8538136","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":"Q89056$37895EA7-854C-4452-9DEA-84EAA302F063","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":"Q89056$8F25BE9E-3FF2-4FA3-A0DE-4053A80708AE","rank":"normal"}]},"sitelinks":{}}}}