Rs_StabilizedOrientation | minus |
RsGeno
|
Mag
|
Summary
|
(-;-)
|
6
|
neurodegenerative disorder (ARSACS)
|
(-;T)
|
3
|
carrier of a neurodegenerative disorder (ARSACS) mutation
|
(T;T)
|
0
|
common in clinvar
|
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder first described in French-Canadian individuals from the Charlevoix and Saguenay-Lac-St-Jean regions of northeastern Quebec. Symptoms begin in early childhood and typically involve muscle overactivity and lack of muscle coordination, resulting in difficulty walking, moving the limbs, and speaking.
https://www.23andme.com/you/journal/arsacs/overview/
rs281865117