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Autosomal recessive spastic ataxia of Charlevoix-Saguenay

What is Autosomal recessive spastic ataxia of Charlevoix-Saguenay?

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a hereditary progressive neurological disorder that mainly affects people from the Saguenay-Lac-St-Jean (SLS) and Charlevoix regions as well as people whose ancestors are from these areas. There are approximately 250 people from the Charlevoix-Saguenay region who are living with this progressive disorder.

The condition, which can affect both males and females, is characterized by degeneration of the spinal cord and progressive damage of the peripheral nerves. Children are usually diagnosed at a young age with symptoms such as poor motor coordination, spastic stiffness, muscle wasting, and slurred speech. These symptoms worsen over time, leaving most patients unable to walk by their early 40s and with a reduced life expectancy.

ARSACS is caused by a gene mutation located on chromosome 13. It is estimated that one out of every 22 people from SLSJ are carriers of the mutated gene.

 

Fact Sheet on ARSACS

 

Useful Links

The Foundation of Ataxia Charlevoix-Saguenay
  • Progress in ARSACS Research

    Thanks to a group of passionate volunteers from the Charlevoix-Saguenay region who dedicated their time to raising money for research, Muscular Dystrophy Canada was able to fund a research project for to investigate this rare disease.

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