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Giant axonal neuropathy

Disease definition

Giant axonal neuropathy (GAN) is a severe, slowly progressive neurodegenerative disorder characterized by progressive motor and sensory peripheral neuropathy, central nervous system involvement (including pyramidal and cerebellar signs), and characteristic kinky hair in most cases.

ORPHA:643

  • Synonym(s):
    • GAN
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Childhood
  • ICD-10: G60.8
  • OMIM: 256850
  • UMLS: -
  • MeSH: D056768
  • GARD: 6500
  • MedDRA: -

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