Autosomal recessive ataxia due to ubiquinone deficiency

An autosomal recessive condition caused by mutation(s) in the SACS gene, encoding sacsin. It is characterized by early onset cerebellar ataxia, pyramidal tract signs and peripheral neuropathy.

Disease Alternative Name

spax6
spastic ataxia 6
autosomal recessive spastic ataxia of charlevoix-saguenay
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