{"entities":{"Q104272":{"pageid":94670,"ns":120,"title":"Item:Q104272","lastrevid":600805,"modified":"2026-08-17T10:08:11Z","type":"item","id":"Q104272","labels":{"mul":{"language":"mul","value":"ID_2037351188"},"pt-br":{"language":"pt-br","value":"Doen\u00e7a de Charcot-Marie-Tooth autoss\u00f4mica recessiva com rouquid\u00e3o"},"en":{"language":"en","value":"Autosomal recessive Charcot-Marie-Tooth disease with hoarseness"}},"descriptions":{"pt-br":{"language":"pt-br","value":"A doen\u00e7a autoss\u00f4mica recessiva de Charcot-Marie-Tooth com rouquid\u00e3o (ARCMT2K ou CMT4C4) \u00e9 uma forma grave de in\u00edcio precoce de polineuropatia perif\u00e9rica sensitivomotora de CMT axonal, com in\u00edcio no per\u00edodo neonatal ou na primeira inf\u00e2ncia com um quadro cl\u00ednico semelhante ao observado em CMT4A (outra forma autoss\u00f4mica recessiva de CMT4 mas com um fen\u00f3tipo desmielinizante), incluindo hipotonia, escoliose, voz rouca, paralisia das cordas vocais e insufici\u00eancia respirat\u00f3ria."},"en":{"language":"en","value":"Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (ARCMT2K or CMT4C4) is a severe early-onset form of axonal CMT peripheral sensorimotor polyneuropathy, with onset in the neonatal period or early infancy with a clinical picture similar to that seen in CMT4A (another autosomal recessive form of CMT4 but with a demyelinating phenotype) including hypotonia, scoliosis, a hoarse voice, vocal cord paralysis and respiratory insufficiency."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"12258c387a1999fd5c6274958e37ecaa92d754fe","datavalue":{"value":"https://id.who.int/icd/entity/2037351188","type":"string"},"datatype":"url"},"type":"statement","id":"Q104272$65C9E33D-0681-4DD4-88F6-B37BBF1AA2EF","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"f846f429d1928727acfcce2e0358510895064412","datavalue":{"value":"CID11:ID_2037351188","type":"string"},"datatype":"string"},"type":"statement","id":"Q104272$6C10BA59-E29F-4D4B-8E25-713F6D666037","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"742dddfa2785f904dfea9b12efb5e1d846ac02ce","datavalue":{"value":"dki-india-ID_2037351188","type":"string"},"datatype":"string"},"type":"statement","id":"Q104272$1920D20F-A722-4318-907C-EA9F13FB7BA1","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q104272$3D188FE9-0A4D-4BFA-AC21-012B1CAC31C4","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":"Q104272$91FBE8C3-7E42-4E82-A473-DACF6403AFC8","rank":"normal"}],"P80":[{"mainsnak":{"snaktype":"value","property":"P80","hash":"8612011b2ca718e4ec0db5a49d2de6d25b2e811c","datavalue":{"value":{"time":"+2026-08-16T00:00:00Z","timezone":0,"before":0,"after":0,"precision":11,"calendarmodel":"http://www.wikidata.org/entity/Q1985727"},"type":"time"},"datatype":"time"},"type":"statement","id":"Q104272$DFEA9DCD-FCE3-432C-A72E-B0789FFA59E7","rank":"normal"}]},"sitelinks":{}}}}