{"entities":{"Q88657":{"pageid":79042,"ns":120,"title":"Item:Q88657","lastrevid":488174,"modified":"2026-08-15T14:59:58Z","type":"item","id":"Q88657","labels":{"mul":{"language":"mul","value":"ID_1678732111"},"pt-br":{"language":"pt-br","value":"Miastenia gravis, familiar"},"en":{"language":"en","value":"Myasthenia gravis, familial"}},"descriptions":{"pt-br":{"language":"pt-br","value":"A hist\u00f3ria familiar \u00e9 positiva em 3-5% dos pacientes com Miastenia Gravis (MG). Os pacientes mais comumente afetados s\u00e3o da mesma gera\u00e7\u00e3o. Idade de in\u00edcio de 2 a 20 anos. O quadro cl\u00ednico \u00e9 semelhante ao da MG n\u00e3o familiar com MG ocular, oculobulbar ou generalizada._x000D_ Em uma fam\u00edlia \u00edtalo-americana com consanguinidade parental, onde 5 em cada 10 irm\u00e3os tinham MG autoimune de in\u00edcio tardio manifestando-se com ptose, diplopia e fraqueza no pesco\u00e7o e nas extremidades, uma sequ\u00eancia homozig\u00f3tica variante no trocador Ecto-NOX dissulfeto-tiol 1 (ENOX1 ) gene foi encontrada."},"en":{"language":"en","value":"Family history is positive in 3-5% of Myasthenia Gravis (MG) patients. Most commonly affected patients are of the same generation. Age at onset 2-20 years. The clinical picture is similar to that of non-familial MG with ocular, oculobulbar or generalised MG.  In an Italian-American family with parental consanguinity where 5 out of 10 siblings had late-onset autoimmune MG manifesting with ptosis, diplopia, and weakness in the neck and extremities a homozygous sequence variant in the Ecto-NOX Disulfide-Thiol exchanger 1 (ENOX1) gene was found."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"b700170b20ddaf1c04e792b3f519ebd3a427d7ae","datavalue":{"value":"https://id.who.int/icd/entity/1678732111","type":"string"},"datatype":"url"},"type":"statement","id":"Q88657$DA00540E-2315-4203-BDD9-983CAF6AB198","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"413355a6c949f75980cdce801b268241c912e565","datavalue":{"value":"CID11:ID_1678732111","type":"string"},"datatype":"string"},"type":"statement","id":"Q88657$405C0FCB-26FC-4112-925A-18EA6081E96A","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"2b84415bb1cc6485489a883ac8ad2f40f39e6542","datavalue":{"value":"dki-india-ID_1678732111","type":"string"},"datatype":"string"},"type":"statement","id":"Q88657$13DE0D98-FE50-40E4-B0D1-8B3B12813E69","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q88657$77FAF736-B350-4854-8105-25BA854BAE1B","rank":"normal"}],"P78":[{"mainsnak":{"snaktype":"value","property":"P78","hash":"5f9b5be68b7400da549761cf15abfdbc4d1e075b","datavalue":{"value":"https://pauloleads.com.br/cases-publicos/","type":"string"},"datatype":"url"},"type":"statement","id":"Q88657$D623FCEF-2741-4212-AA6C-6ADE86BB7AF0","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":"Q88657$E877EBD2-78BA-47F3-B4B5-E885DE8AE2FF","rank":"normal"}]},"sitelinks":{}}}}