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Autosomal recessive spastic ataxia of Charlevoix-Saguenay

Disease definition

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterised by early-onset cerebellar ataxia with spasticity, a pyramidal syndrome and peripheral neuropathy.

ORPHA:98

  • Synonym(s):
    • ARSACS
    • Autosomal recessive spastic ataxia type 6
    • SPAX6
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Childhood, Adolescent, Adult
  • ICD-10: G11.1
  • OMIM: 270550
  • UMLS: C1849140
  • MeSH: C536787
  • GARD: 4910
  • MedDRA: -

Detailed information

Professionals

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