Neuromuscular Disorders

Neuromuscular Disorders

Collagen VI Myopathies

Congenital muscular dystrophies are a genetically diverse group of disorders resulting in muscle weakness with or without joint contractures. Collagen VI myopathies include two disorders, Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM). These disorders had initially been considered distinct, but have since been connected to the three genes that encode collagen VI: COL6A1, COL6A2, and COL6A3. Both disorders share an unusual combination of laxity in some joints with contractures in others.