Similar Diseases
- ARSACS
- ARSAL
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- AD-SPAX
- AR-SPAX
- Autosomal recessive spastic ataxia type 2
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Results for Query ‹ ARSACS screening ›
Autosomal recessive spastic ataxia of Charlevoix-Saguenay – Genetics
The inheritance pattern is autosomal recessive. The disorder is caused by a mutation in the SGCG on chromosome 13. The mutation of the SACS gene causes the production of an unstable, poorly functioning SACSIN protein. It is unclear as to how this mutation affects the central nervous system (CNS) and skeletal muscles presenting in the signs and symptoms of ARSACS.
Autosomal recessive spastic ataxia of Charlevoix-Saguenay – Prognosis
Most patients begin to use a wheelchair for movement around age 30-40. Death usually occurs in their 60s, but some have been reported to live longer.