{"entities":{"Q107766":{"pageid":98158,"ns":120,"title":"Item:Q107766","lastrevid":625867,"modified":"2026-08-17T14:48:09Z","type":"item","id":"Q107766","labels":{"mul":{"language":"mul","value":"ID_1011547453"},"pt-br":{"language":"pt-br","value":"Distrofia muscular cong\u00eanita de Ullrich"},"en":{"language":"en","value":"Ullrich congenital muscular dystrophy"}},"descriptions":{"pt-br":{"language":"pt-br","value":"A Distrofia Muscular Cong\u00eanita de Ullrich (UCMD), causada pela defici\u00eancia de col\u00e1geno VI, \u00e9 uma das miopatias heredit\u00e1rias mais comuns. \u00c9 caracterizada por hipotonia, atrasos nos marcos motores, fraqueza muscular proximal, hiperfrouxid\u00e3o articular distal e contraturas articulares proximais no primeiro ano de vida. As dificuldades alimentares na inf\u00e2ncia tamb\u00e9m s\u00e3o uma caracter\u00edstica relativamente comum, como a insufici\u00eancia respirat\u00f3ria, que \u00e9 quase invari\u00e1vel no final da adolesc\u00eancia. \u00c9 causada por muta\u00e7\u00f5es recessivas ou dominantes em qualquer um dos tr\u00eas genes do col\u00e1geno 6 (COL6A1, COL6A2 e COL6A3) que resultam na aus\u00eancia ou defici\u00eancia parcial de col\u00e1geno VI ao redor da fibra muscular."},"en":{"language":"en","value":"Ullrich Congenital Muscular Dystrophy (UCMD), caused by collagen VI deficiency, is one of the most common inherited myopathies. It is characterised by hypotonia, delayed motor milestones, proximal muscle weakness, distal joint hyperlaxity and proximal joint contractures within the first year of life. Feeding difficulties in childhood are also a relatively common feature, as respiratory insufficiency which is almost invariable by the late teens. It is caused by recessive or dominant mutations in any of the three collagen 6 genes (COL6A1, COL6A2 and COL6A3) which result in an absence or partial deficiency of collagen VI around the muscle fibre."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"ec477753e69d703ffca9bea613cff7b036e7d3c0","datavalue":{"value":"https://id.who.int/icd/entity/1011547453","type":"string"},"datatype":"url"},"type":"statement","id":"Q107766$6D39086C-17E1-4278-B82A-B105E8667E03","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"e1b6058aa86839a4bd4b07434b2ba880cfba1a84","datavalue":{"value":"CID11:ID_1011547453","type":"string"},"datatype":"string"},"type":"statement","id":"Q107766$8175CCCF-BF0F-4780-8F9B-499A6607282A","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"45d70836815759e9a9ab2e6fec6d32987127da7f","datavalue":{"value":"dki-india-ID_1011547453","type":"string"},"datatype":"string"},"type":"statement","id":"Q107766$C5FB9CCC-2BB5-4393-BAD6-CF830C22171C","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q107766$9C1D1335-6FF4-4D36-B207-1699C7B32DC2","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":"Q107766$9683F5C5-9950-4341-A316-FD7E7C5B6315","rank":"normal"}],"P80":[{"mainsnak":{"snaktype":"value","property":"P80","hash":"8612011b2ca718e4ec0db5a49d2de6d25b2e811c","datavalue":{"value":{"time":"+2026-08-16T00:00:00Z","timezone":0,"before":0,"after":0,"precision":11,"calendarmodel":"http://www.wikidata.org/entity/Q1985727"},"type":"time"},"datatype":"time"},"type":"statement","id":"Q107766$EE48D982-61E5-45F3-9353-8B8359785574","rank":"normal"}]},"sitelinks":{}}}}