ataxia of Charlevoix-Saguenay
Definition: an autosomal recessive, slowly progressive spastic ataxia of childhood onset, due to a gene mutation on chromosome 13.
[Saguenay-Lac-St. Jean and Charlevoix, isolated regions in northeastern Quebec to which the gene pool of the disease is limited]
© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.