{"entities":{"Q102553":{"pageid":92946,"ns":120,"title":"Item:Q102553","lastrevid":588379,"modified":"2026-08-16T19:37:52Z","type":"item","id":"Q102553","labels":{"mul":{"language":"mul","value":"ID_1947548457"},"pt-br":{"language":"pt-br","value":"Miopatia por corp\u00fasculo de inclus\u00e3o com doen\u00e7a de Paget \u00f3ssea e dem\u00eancia frontotemporal"},"en":{"language":"en","value":"Inclusion body myopathy with Paget disease of bone and frontotemporal dementia"}},"descriptions":{"pt-br":{"language":"pt-br","value":"Transtorno degenerativo multissist\u00eamico de heran\u00e7a autoss\u00f4mica dominante causado por muta\u00e7\u00f5es em p97/VCP (prote\u00edna contendo valosina). A miopatia est\u00e1 presente em 90% dos indiv\u00edduos afetados, caracterizada por fraqueza muscular proximal e distal de in\u00edcio na idade adulta com atrofia associada. O m\u00fasculo esquel\u00e9tico afetado cont\u00e9m \u201cvac\u00faolos arom\u00e1ticos\u201d e inclus\u00f5es tanto mionucleares quanto sarcoplasm\u00e1ticas. A penetr\u00e2ncia de dem\u00eancia fronto-temporal \u00e9 de aproximadamente 30% e seu in\u00edcio \u00e9 mais tardio do que o da miopatia. O tecido do SNC tem inclus\u00f5es ubiquitinadas intranucleares proeminentes e positivas para TDP-43. A doen\u00e7a de Paget do osso se manifesta em aproximadamente 50% dos pacientes com idade semelhante \u00e0 da miopatia. Os osteoclastos pag\u00e9ticos tamb\u00e9m possuem inclus\u00f5es nucleares e citos\u00f3licas ubiquitinadas."},"en":{"language":"en","value":"Autosomal dominantly inherited multisystem degenerative disorder caused by mutations in p97/VCP (valosin-containing protein). Myopathy is present in 90%of affected individuals, characterised by adult-onset, proximal and distal muscle weakness with associated atrophy. Affected skeletal muscle contains \u201crimmed vacuoles\u201d and both myonuclear and sarcoplasmic inclusions. The penetrance of fronto-temporal dementia is approximately 30% and its onset is at a later age than myopathy. CNS tissue has prominent intranuclear ubiquitinated and TDP-43-positive inclusions. Paget disease of the bone manifests in approximately 50% of patients at a similar age to the myopathy. Pagetoid osteoclasts have ubiquitinated nuclear and cytosolic inclusions as well."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"7503134f30a336f0f0263c260b62e175c333aadc","datavalue":{"value":"https://id.who.int/icd/entity/1947548457","type":"string"},"datatype":"url"},"type":"statement","id":"Q102553$42B7F004-8C3E-43EE-93BB-7A0530CC4988","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"2f2dd8750d0c4ab4d5cc36f5b7ada8eaffba76ed","datavalue":{"value":"CID11:ID_1947548457","type":"string"},"datatype":"string"},"type":"statement","id":"Q102553$F767EDA0-1A3E-410D-BC7F-D098388F4C55","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"fa2cc14caaa38cbaa9b0849aa71931b8074325c3","datavalue":{"value":"dki-india-ID_1947548457","type":"string"},"datatype":"string"},"type":"statement","id":"Q102553$8E28F4A6-9C7D-4379-9868-09C66383E174","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q102553$5F3C09D8-0CC8-4598-A962-C086A1C02B64","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":"Q102553$398AB35B-FEE6-4104-8A30-7EC17AFB593A","rank":"normal"}],"P80":[{"mainsnak":{"snaktype":"value","property":"P80","hash":"378ac503ed43f21e1f461d2823a6ad59da580514","datavalue":{"value":{"time":"+2026-08-15T00:00:00Z","timezone":0,"before":0,"after":0,"precision":11,"calendarmodel":"http://www.wikidata.org/entity/Q1985727"},"type":"time"},"datatype":"time"},"type":"statement","id":"Q102553$6809F85B-DB68-49BC-B208-4F3A6EFC83DD","rank":"normal"}]},"sitelinks":{}}}}