Fukuyama congenital muscular dystrophy is a congenital muscular dystrophy with an autosomal recessive inheritance pattern, considered to be the second most common muscular dystrophy in Japan ¹, after Duchenne muscular dystrophy

The most common and characteristic changes in the central nervous system are brain malformations, which include polymicrogyria, pachygyria and agyria of the cerebrum and cerebellum (cobblestone cortex), which lack neuronal lamination of the normal six-layered cortex ¹.

On brain MR examinations, virtually all patients show polymicrogyria and approximately half show pachygyria. These two types of cortical dysplasias are present in characteristic distributions: the former demonstrates frontal lobe involvement in all and parietotemporal lobe involvement in some, whereas the latter involves the temporooccipital lobes. 

Traditionally, the diagnosis is based on pathologic evidence of muscular dystrophy in the biopsy specimen obtained in the appropriate clinical context.