(Fukuyama myopathy or muscular dystrophy, muscular dystrophy with micropolygyria)

See also :Congenital muscular dystrophies

Congenital muscular dystrophy associated with malformations of the central nervous system (DMC type Fukuyama), frequent in Japan (12/100,000). This myopathy is due to an anomaly of the O-glycosylation of the membrane proteins (mutation of LGMD2M gene (9q31.2) coding for fukutin).

Muscle involvement is generalized from birth (muscle contractures, hypotonia). Mental retardation is severe (microcephaly, cerebral and cerebellar micropolygyria) and associated ocular anomalies (nystagmus, strabismus, myopia, cataract). Cardiac involvement is possible. Death usually occurs around the age of 15 years. CPK levels are high.

Anesthetic implications: 

halogenated agents have been used without problems in many cases, but a case of acute rhabdomyolysis after combined use of halothane and succinylcholine has been reported

References : 

-         Nakazato A, Shime H, Morooka K, Nonaka I. 
Anesthesia-induced rhabdomyolysis in a patient with Fukuyama type congenital muscular dystrophy. 
Brain & Development 1983, 5: 243.

Updated: May 2019