Congenital muscular dystrophy, Fukuyama type
ORPHA:272· ICD-10 G71.0
Definition
A rare congenital progressive muscular dystrophy often characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment.
- Prevalence
- Unknown
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy