Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a very rare neurodegenerative genetic disorder that primarily affects people from the Charlevoix and Saguenay–Lac-Saint-Jean regions of Quebec or descendants of native settlers in this region.
[1][2] This disorder has also been demonstrated in people from various other countries including India, Turkey, Japan, the Netherlands, Italy, Belgium, Finland, France, and Spain.
[4] ARSACS is usually diagnosed in early childhood, approximately 12–24 months of age when a child begins to take their first steps.
At this time, it manifests as a lack of coordination and balance resulting in frequent falls.
[7] It is unclear as to how these mutations affect the central nervous system (CNS) and skeletal muscles presenting in the signs and symptoms of ARSACS.