Catalog

Congenital muscular dystrophy Fukuyama type

No MMS code

Link to WHO Definition

Congenital muscular dystrophy Fukuyama type – http://id.who.int/icd/entity/1547688117

Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterised by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment. FKTN is the only gene associated with FCMD