Laminin subunit alpha 2-related congenital muscular dystrophy
ORPHA:258· ICD-10 G71.2
Definition
A rare congenital muscular dystrophy characterized by severe hypotonia, muscle weakness and muscle wasting presenting at birth or during infancy, poor spontaneous movements and contractures of the large joints. Patients have poor motor development leading to feeding and respiratory issues.
- Prevalence
- 1-9 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal