Fukuyama type muscular dystrophy

Overview

Fukuyama type muscular dystrophy (also known as Fukuyama congenital muscular dystrophy): A rare inherited muscle wasting disease occurring predominantly in Japan and characterized by mental retardation and muscle weakness from infancy.

Symptoms

Asphyxia at birth Abnormal infant muscles Infant hypotonia Weak infant cry Weak infant suck

Causes

Muscular dystrophy is caused by various genetic mechanisms. Duchenne’s and Becker’s muscular dystrophies are X-linked recessive disorders. Both result from defects in the gene coding for the muscle protein dystrophin; the gene has been mapped to the Xp21 locus. The incidence muscular dystrophy is about 1 in 651,450 persons in the United States. Duchenne’s and Becker’s muscular dystrophies affect males almost exclusively. Facioscapulohumeral dystrophy is an autosomal dominant disorder. Limb-girdle dystrophy is usually autosomal recessive. These two types affect both sexes about equally.