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Spinocerebellar ataxia type 3

Disease definition

Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1; see this term), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations.

ORPHA:98757

  • Synonym(s):
    • Azorean disease of the nervous system
    • MJD
    • Machado disease
    • Machado-Joseph disease
    • Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia
    • SCA3
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood, Adolescent, Adult
  • ICD-10: G11.8
  • OMIM: 109150
  • UMLS: C0024408
  • MeSH: -
  • GARD: 6801
  • MedDRA: -

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