Two Dutch siblings with congenital muscular dystrophy (Fukuyama type).
Two Dutch siblings are described suffering from muscular weakness, hypotonia, severe joint contractures, mental retardation and epileptic fits. E.M.G. showed a characteristic myopathic pattern. Muscle biopsy revealed changes consistent with congenital muscular dystrophy. On CT marked hypodensities of the cerebral white matter were noticed. These findings are consistent with congenital muscular dystrophy of the Fukuyama type, a peculiar form of congenital muscular dystrophy, extremely rare outside Japan.
D000328:Adult; D005260:Female; D006801:Humans; D009136:Muscular Dystrophies / Q000151:congenital* / Q000235:genetics; D009426:Netherlands