[medical citation needed] In terms of the signs/symptoms of Fukuyama congenital muscular dystrophy it is characterized by a decrease in skeletal muscle tone as well as an impairment in brain and eye development.

Further characteristics include:[2] Fukuyama congenital muscular dystrophy also affects the nervous system and various associated parts.

FCMD affects normal development of the brain producing a broadly smooth, bumpy shaped cortex named cobblestone lissencephaly as well as various other malformations, notably micropolygyria.

[7] The cause of Fukuyama congenital muscular dystrophy is rooted in the FKTN gene, located at human chromosome 9q31, encoding the protein fukutin.

[10] The mechanism of this sub-type of muscular dystrophy consists of a mutation in the FKTN gene which results in a malformed fukutin protein.

[11][12] Serum creatine kinase concentration and muscle biopsies can be obtained to help determine if the individual has FMCD.

FKTN molecular genetic testing is used to determine a mutation in the FKTN gene after a serum creatine kinase concentration, muscle biopsies, and/or MRI imaging have presented abnormalities indicative of FCMD, the presence of the symptoms indicates Fukuyama congenital muscular dystrophy.

ACE inhibitors and beta blockers help treat heart conditions, and respiratory assistance is more than likely needed at some point for the affected individual.