Orphanet: Autosomal recessive spastic ataxia of Charlevoix Saguenay

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.


Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

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.


Classification level: Disorder
  • 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


The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.