Congenital muscular dystrophy with cerebellar involvement
ORPHA:370959· ICD-10 G71.2
Definition
A rare, congenital muscular dystrophy due to dystroglycanopathy characterized by proximal muscle weakness with a tendency for muscle hypertrophy and pseudohypertrophy, variable cognitive impairment, microcephaly, cerebellar hypoplasia with or without cysts, and other structural brain anomalies.
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal