Ullrich congenital muscular dystrophy (Q107766): Difference between revisions

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.