Fukuyama congenital muscular dystrophy

Fukuyama congenital muscular dystrophy (FCMD) is a form of congenital muscular dystrophy. It is an autosomal recessive disease and the second most common muscular dystrophy in Japan 1.

Clinical presentation

Patients are hypotonic at birth. Cerebellar dysplasia, retinal dysplasia and gyral malformations are less consistent than in Walker-Warburg syndrome 2.

It is a cause of cobblestone lissencephaly. The cerebellum is characterised by polymicrogyria 1. White matter abnormality is most commonly diffuse, but may also be patchy, spotty or equivocal 1.

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Article information

rID: 41541
Synonyms or Alternate Spellings:
  • Fukuyama syndrome
  • Fukuyama congenital muscular dystrophy (FCMD)
  • Fukuyama's congenital muscular dystrophy

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