National registry of patients with Fukuyama congenital muscular dystrophy in Japan

Fukuyama congenital muscular dystrophy (FCMD), an autosomal recessive disorder characterized by the combination of severe muscular dystrophy and dysgenesis of the eye and central nervous system which causes intellectual deficits and epilepsy, was first reported by Fukuyama et  al. in 1960 [1, 2]. FCMD is the second most prevalent of the Japanese childhood-onset muscular dystrophies after Duchenne muscular dystrophy (DMD), but it is rarely reported outside of Japan. The annual incidence was previously reported to be 2.9 per 100,000 live births [3, 4].
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research