The Fukuyama congenital muscular dystrophy (FCMD) chromosome analysis has been further defined at the University of Tokyo; Department of Pediatrics, Tokyo Women’s Medical College; Kobe General Hospital; Aichi Welfare Center, Kasugai; and Nagoya City University Medical School, Japan. The FCMD locus was first mapped to chromosome 9q31-33 by genetic linkage analysis, and further defined with additional markers and families between loci D9S127 and CA246, a region that includes the mfd 220 locus. The close proximity of mfd220 to FCMD is supported by tight linkage disequilibrium. [1]

COMMENT. Fukuyama-type congenital muscular dystrophy is an autosomal recessive disorder of muscle complicated by CNS anomalies and neuronal migration defects. It is the second most common form of childhood muscular dystrophy in Japan, and 1 in 100 persons is a carrier. Weakness of facial and limb muscles and generalized hypotonia are evident before 9 months, and most patients never walk. Severe mental and speech retardation occur simultaneously, and survival beyond 20 years is rare. The biochemical and cytogenetic defects are unknown.