{"entities":{"Q103454":{"pageid":93852,"ns":120,"title":"Item:Q103454","lastrevid":594889,"modified":"2026-08-17T09:13:11Z","type":"item","id":"Q103454","labels":{"mul":{"language":"mul","value":"ID_731763322"},"pt-br":{"language":"pt-br","value":"Neuropatia motora heredit\u00e1ria distal tipo 5"},"en":{"language":"en","value":"Distal hereditary motor neuropathy type 5"}},"descriptions":{"pt-br":{"language":"pt-br","value":"Pacientes com NMHD5 desenvolvem fraqueza e atrofia mais proeminente do membro superior distal. A idade m\u00e9dia de in\u00edcio \u00e9 na adolesc\u00eancia. A fraqueza subsequentemente se espalha para o membro inferior distal e permanece de forma muito lentamente progressiva. Os pacientes podem permanecer ambulantes em fases mais tardias da vida. Podem ser observadas caracter\u00edsticas piramidais leves. Dois subtipos foram identificados: 5A causada por muta\u00e7\u00f5es em GARS ou BSCL2 e 5B causada por muta\u00e7\u00f5es em REEP1."},"en":{"language":"en","value":"Patients with DHMN5 develop weakness and wasting most prominently of the distal upper limb. Average age of onset is in the teenage years. Weakness subsequently spreads to the distal lower limb and remains very slowly progressive. Patients may remain ambulant into later life. Mild pyramidal features may be observed. Two subtypes have been identified; 5A caused by mutations in GARS or BSCL2, and 5B caused by mutations in REEP1."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"d50bb774baa3eccaa0a94cf43166f6b75675ea2b","datavalue":{"value":"https://id.who.int/icd/entity/731763322","type":"string"},"datatype":"url"},"type":"statement","id":"Q103454$AF6D98FA-48D3-4B88-B875-50829F6CE61C","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"96b38140d17644abfc64cab5344a4be105c3fbb1","datavalue":{"value":"CID11:ID_731763322","type":"string"},"datatype":"string"},"type":"statement","id":"Q103454$14557E62-C457-43F5-9A7E-45CF82FDFA2C","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"5f3a0c6fc79e859fe788631bd999065a36c190dc","datavalue":{"value":"dki-india-ID_731763322","type":"string"},"datatype":"string"},"type":"statement","id":"Q103454$F89B03DF-E5D0-4650-A172-5DED979252A6","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q103454$E2CF65AA-7CA1-43DF-8E5F-55867FEE3D1A","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":"Q103454$8E4DEA26-8B1A-41D6-8299-234A95A224C8","rank":"normal"}],"P80":[{"mainsnak":{"snaktype":"value","property":"P80","hash":"8612011b2ca718e4ec0db5a49d2de6d25b2e811c","datavalue":{"value":{"time":"+2026-08-16T00:00:00Z","timezone":0,"before":0,"after":0,"precision":11,"calendarmodel":"http://www.wikidata.org/entity/Q1985727"},"type":"time"},"datatype":"time"},"type":"statement","id":"Q103454$D43C2297-3989-4BCD-8F9F-D3E506A49F17","rank":"normal"}]},"sitelinks":{}}}}