Orphanet: Dystrophie musculaire congénitale type Fukuyama

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Congenital muscular dystrophy, Fukuyama type

Disease definition

Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment.


Classification level: Disorder
  • Synonym(s):
    • FCMD
    • Fukuyama congenital muscular dystrophy
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: -
  • Age of onset: Infancy
  • ICD-10: G71.0
  • OMIM: 253800
  • UMLS: C0410174
  • MeSH: -
  • GARD: 6475
  • MedDRA: -
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