Ullrich congenital muscular dystrophy
ORPHA:75840· 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, with a loss of ambulation (if achieved) and uniform respiratory insufficiency during childhood.
- Prevalence
- 1-9 / 1 000 000
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Infancy, Neonatal