ARSACS (Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay)

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) is a progressive neurological disorder characterized by the combination of cerebellar ataxia (difficulty with coordination and balance), spasticity (muscle stiffness), and peripheral neuropathy (damage to nerves in the hands and feet).

Originally identified in the Charlevoix-Saguenay-Lac-Saint-Jean region of Quebec, Canada, ARSACS has since been reported worldwide. It is one of the most common hereditary ataxias in Quebec due to founder effects, where a small ancestral population carried the mutation.

Symptoms typically begin in early childhood, usually between 12 and 18 months of age, when children start to walk. Early signs include unsteady gait, frequent falls, and difficulty with fine motor tasks. As the disease progresses, individuals may experience slurred speech, muscle wasting, and retinal abnormalities detectable by eye examination.

The condition is caused by mutations in the SACS gene, which provides instructions for making a protein called sacsin. This protein is important for maintaining healthy mitochondria (the energy-producing structures in cells) and is particularly important in nerve cells.

NutraHacker examines the following gene related to ARSACS:

• SACS

For more information about your own genetic profile as related to ARSACS, please check out our NutraHacker Carrier Status and Drug Response Report.

Or to get going without any further delay, upload raw DNA data and find out more about your carrier status today.