Charlevoix-Saguenay spastic ataxia

Definition

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

Also known as ARSACS, autosomal recessive spastic ataxia of Charlevoix-Saguenay, autosomal recessive spastic ataxia type 6, Charlevoix-Saguenay spastic ataxia, SPAX6 — per MONDO

Also identified as

• DOID 0050946 per MONDO
• MESH C536787 per MONDO
• OMIM 270550 per MONDO
• Orphanet 98 per MONDO
• SCTID 702445005 per MONDO
• UMLS C1849140 per MONDO