Autosomal recessive spastic ataxia of Charlevoix-Saguenay

Orpha code: 98OMIM code: 270550

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.

Disease data
Classification

Disease

Synonyms
ARSACS
SPAX6
ARSACS
Autosomalna recesywna ataksja spastyczna typu 6
Autosomal recessive spastic ataxia type 6
SPAX6
ORPHA code
98
OMIM code
270550
ICD10 code
G11.1
ICD11 code
8A03.1Y

No additional description.

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