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References OMIM Gene GeneReviews HGMD HGNC
last update : 20-01-2015
Symbol FCMD
Location 9q31.2
Name Fukuyama congenital muscular dystrophy
Other name(s)
  • muscular dystrophy, progressive with mental retardation
  • muscular dystrophy with central nervous system involvement
  • micropolygyria with muscular dystrophy
  • Corresponding gene FKTN
    Main clinical features
  • most common in the Japanese population
  • associated with brain malformation, essentially micropolygyria, pachygyria and agyria (Cobblestone, type 2, lissencephaly), abnormal eye movements and peripheral retinal dysplasia and moderate mental retardation
  • agenesis of corpus callosum
  • associated to hypoglycosylation of dystroglycan
  • on MRI, increased white- matter signal intensity, with peripheral sparing, brainstem and cerebellar abnormalities, ventricular enlargement
  • Genetic determination autosomal recessive
    Prevalence 3-10/100000
    Related entries . including some severe Walker-Warburg-like manifestations such as hydrocephalus and microphthalmia
    Function/system disorder congenital malformation
    Type disease
    Gene mutationChromosome rearrangementEffectComments
    insertion     in the 3'untranslated region
  • deficiency of highly glycosylated alpha dystroglycan on surface of muscle fibers
  • mutations in fukutin cause abnormal glycosylation of cell surface alpha-dystroglycan which in turn reduces its laminin-binding activity (PMID: 22771323))