Ullrich congenital muscular dystrophy (Q107766): Difference between revisions
From determinar.ia.br - Determine suas informações
Created a new Item |
Changed an Item |
||||||||||||||
| (6 intermediate revisions by the same user not shown) | |||||||||||||||
| description / pt-br | description / pt-br | ||||||||||||||
A Distrofia Muscular Congênita de Ullrich (UCMD), causada pela deficiência de colágeno VI, é uma das miopatias hereditárias mais comuns. É caracterizada por hipotonia, atrasos nos marcos motores, fraqueza muscular proximal, hiperfrouxidão articular distal e contraturas articulares proximais no primeiro ano de vida. As dificuldades alimentares na infância também são uma característica relativamente comum, como a insuficiência respiratória, que é quase invariável no final da adolescência. É causada por mutações recessivas ou dominantes em qualquer um dos três genes do colágeno 6 (COL6A1, COL6A2 e COL6A3) que resultam na ausência ou deficiência parcial de colágeno VI ao redor da fibra muscular. | |||||||||||||||
| description / en | description / en | ||||||||||||||
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. | |||||||||||||||
| Property / Canonical URI | |||||||||||||||
| Property / Canonical URI: https://id.who.int/icd/entity/1011547453 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / CURIE | |||||||||||||||
CID11:ID_1011547453 | |||||||||||||||
| Property / CURIE: CID11:ID_1011547453 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Canary Token | |||||||||||||||
dki-india-ID_1011547453 | |||||||||||||||
| Property / Canary Token: dki-india-ID_1011547453 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Verification Status | |||||||||||||||
Concluído | |||||||||||||||
| Property / Verification Status: Concluído / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Knowledge Architect | |||||||||||||||
| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Collection date | |||||||||||||||
16 August 2026
| |||||||||||||||
| Property / Collection date: 16 August 2026 / rank | |||||||||||||||
Normal rank | |||||||||||||||
Latest revision as of 14:48, 17 August 2026
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.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1011547453 |
||
| English | Ullrich congenital muscular dystrophy |
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. |
Statements
CID11:ID_1011547453
0 references
dki-india-ID_1011547453
0 references
Concluído
0 references
16 August 2026
0 references
