Preferred Label : Ullrich congenital muscular dystrophy;
ICD-11 definition : Ullrich Congenital Muscular Dystrophy (UCMD), caused by collagen VI deficiency, is
one of the most common inherited myopathies. It is characterized 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.;
ICD-11 synonym : UCMD - [Ullrich congenital muscular dystrophy];
ICD-11 acronym : UCMD;
Origin ID : 1011547453;
Automatic exact mappings (from CISMeF team)
Ullrich Congenital Muscular Dystrophy (UCMD), caused by collagen VI deficiency, is
one of the most common inherited myopathies. It is characterized 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.
