{"entities":{"Q89554":{"pageid":79940,"ns":120,"title":"Item:Q89554","lastrevid":494738,"modified":"2026-08-15T16:20:52Z","type":"item","id":"Q89554","labels":{"mul":{"language":"mul","value":"ID_389749238"},"pt-br":{"language":"pt-br","value":"Neuropatia motora heredit\u00e1ria distal, ligada ao X"},"en":{"language":"en","value":"Distal hereditary motor neuropathy, X-linked"}},"descriptions":{"pt-br":{"language":"pt-br","value":"Duas fam\u00edlias foram relatadas com o in\u00edcio de fraqueza distal na primeira d\u00e9cada de vida. Pes cavus foi comumente o primeiro sintoma detectado, seguido por fraqueza e atrofia dos membros inferiores distais. Posteriormente, pode haver o envolvimento do membro superior distal. O transtorno foi herdado em um padr\u00e3o recessivo ligado ao X, com muta\u00e7\u00e3o causal identificada no gene de transporte de cobre ATP7A (Xq21.1)."},"en":{"language":"en","value":"Two families have been reported with the onset of distal weakness in the first decade of life. Pes cavus was commonly the first detected symptom followed by distal lower limb weakness and atrophy. Involvement of the distal upper limb followed. The disorder was inherited in an X-linked recessive pattern, with causative mutation identified in the copper transport gene ATP7A (Xq21.1)."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"28ad32eafb205ab7cd13cb32ba7869c535d487a9","datavalue":{"value":"https://id.who.int/icd/entity/389749238","type":"string"},"datatype":"url"},"type":"statement","id":"Q89554$7C8AE681-B8B2-4948-BF2F-02140EC42CA5","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"3f7701c13e0df0eaaf1e7a5a4613d0a0e3b6dc3e","datavalue":{"value":"CID11:ID_389749238","type":"string"},"datatype":"string"},"type":"statement","id":"Q89554$470ADBAB-0C36-4CBA-A5DA-69D9FC1398A1","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"15c35c3bc9c975434d4e1fce9b33828240575ab6","datavalue":{"value":"dki-india-ID_389749238","type":"string"},"datatype":"string"},"type":"statement","id":"Q89554$75C54FA4-6D65-45E6-906E-79662D0A2928","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q89554$132CD3CE-0D13-4421-AAEA-BB33137BBFF5","rank":"normal"}],"P78":[{"mainsnak":{"snaktype":"value","property":"P78","hash":"5f9b5be68b7400da549761cf15abfdbc4d1e075b","datavalue":{"value":"https://pauloleads.com.br/cases-publicos/","type":"string"},"datatype":"url"},"type":"statement","id":"Q89554$E8005639-5E83-4211-84DE-34F74ACA450A","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":"Q89554$689DA4E6-4022-459C-AD97-D0F182440AA1","rank":"normal"}]},"sitelinks":{}}}}