{"entities":{"Q104257":{"pageid":94655,"ns":120,"title":"Item:Q104257","lastrevid":600689,"modified":"2026-08-17T10:07:22Z","type":"item","id":"Q104257","labels":{"mul":{"language":"mul","value":"ID_1592118409"},"pt-br":{"language":"pt-br","value":"Doen\u00e7a de Charcot-Marie-Tooth tipo 2L"},"en":{"language":"en","value":"Charcot-Marie-Tooth disease type 2L"}},"descriptions":{"pt-br":{"language":"pt-br","value":"A doen\u00e7a de Charcot-Marie-Tooth autoss\u00f4mica dominante tipo 2L (CMT2L) \u00e9 uma forma de doen\u00e7a de Charcot-Marie-Tooth axonal, uma neuropatia perif\u00e9rica sensitivomotora. Na \u00fanica fam\u00edlia em que foi relatada at\u00e9 o momento, o in\u00edcio da CMT2L ocorre entre 15 e 33 anos. Os pacientes apresentam fraqueza distal sim\u00e9trica das pernas e ocasionalmente das m\u00e3os, reflexos tendinosos ausentes ou reduzidos, perda sensitiva distal das pernas e frequentemente p\u00e9s cavos. A progress\u00e3o \u00e9 lenta."},"en":{"language":"en","value":"Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"943be2c257c58529269d40143d2a3544e3436c26","datavalue":{"value":"https://id.who.int/icd/entity/1592118409","type":"string"},"datatype":"url"},"type":"statement","id":"Q104257$A0CE29CE-8D7E-4841-A0F0-01EB1211CE8F","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"a3989f54fbc060fc501dc7f73583a54dd17b9c7d","datavalue":{"value":"CID11:ID_1592118409","type":"string"},"datatype":"string"},"type":"statement","id":"Q104257$8BF96F7F-7D68-490E-BA3A-FDB14157105A","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"169101ccafaef2bfbdd53035271969ba60a490d9","datavalue":{"value":"dki-india-ID_1592118409","type":"string"},"datatype":"string"},"type":"statement","id":"Q104257$AB1ED174-D695-4276-A27A-5EB44C1EE61B","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q104257$A35BB6F5-B279-4E4B-AA1E-2C61F027C53F","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":"Q104257$4C9025C2-535C-4D3B-BA16-1FB80D7F627B","rank":"normal"}],"P80":[{"mainsnak":{"snaktype":"value","property":"P80","hash":"8612011b2ca718e4ec0db5a49d2de6d25b2e811c","datavalue":{"value":{"time":"+2026-08-16T00:00:00Z","timezone":0,"before":0,"after":0,"precision":11,"calendarmodel":"http://www.wikidata.org/entity/Q1985727"},"type":"time"},"datatype":"time"},"type":"statement","id":"Q104257$E4A3105E-52E8-45F9-A2F9-8369FE1D63D3","rank":"normal"}]},"sitelinks":{}}}}