Intermediate collagen VI-related muscular dystrophy
ORPHA:646113· ICD-10 G71.2
Definition
A form of congenital muscular dystrophy characterized by congenital weakness, hypotonia, proximal joint contractures, marked hyperlaxity of the distal joints, attainment of independent ambulation which is subsequently lost and uniform respiratory insufficiency during the teenage years.
- Inheritance
- Autosomal dominant, Autosomal recessive