Autosomal recessive spastic ataxia of Charlevoix-Saguenay

Recessive spastic ataxia of Charlevoix-Saguenay is one of the most common recessive genetic disorders in some regions of Québec:

• Saguenay–Lac-Saint-Jean;
• Charlevoix;
• Haute-Côte-Nord.

Recessive spastic ataxia of Charlevoix-Saguenay is a neuromuscular disorder affecting the spinal cord and the nerves responsible for body movements, balance and coordination.

The life expectancy of an affected person is around 60 years.

Spastic ataxia of Charlevoix-Saguenay is associated with the following symptoms:

• spasticity (stiffness) of the legs (worsens over time);
• lack of balance when learning to walk, loss of balance, falls, poor coordination of arm and hand movements;
• deformities of the hands and feet;
• speech problems (e.g., difficulty producing sounds clearly, speaking fluently or pronouncing correctly).

Everyone is different. The severity of the disease or its symptoms can vary considerably from one person to another.

There is no treatment to cure autosomal recessive spastic ataxia of Charlevoix-Saguenay. Surgery and various therapies can, however, help delay or alleviate some symptoms of the disease.

Affected children are followed by specialized teams of professionals from the health and social services network.

Over the years, autosomal recessive spastic ataxia of Charlevoix-Saguenay can lead to the following complications:

• loss of autonomy due to the slow and gradual progression of symptoms;
• a cane or walker is needed to get around, usually starting in the person’s twenties;
• a wheelchair is needed to get around, usually starting in the person’s thirties;
• more and more help is needed with activities of daily living, starting in the person’s forties.

Spastic ataxia of Charlevoix-Saguenay is an autosomal recessive hereditary disease.

To find out more, go to the page About autosomal recessive hereditary diseases.

It is impossible to prevent autosomal recessive spastic ataxia of Charlevoix-Saguenay in newborns who have received a copy of the variant in a gene from each of their biological parents.

However, the variant responsible for the disease can be detected in a simple, rapid and inexpensive way.

The Ministère de la Santé et des Services sociaux (MSSS) and the Centre intégré universitaire de santé et de services sociaux (CIUSSS) du Saguenay–Lac-Saint-Jean offer screening tests to identify carriers of this disease.

To find out more, go to the page Carrier screening for autosomal recessive hereditary diseases in people from the Saguenay–Lac-Saint-Jean, Charlevoix and Haute-Côte-Nord regions.

To get help or more information on neuromuscular disorders such as spastic ataxia of Charlevoix-Saguenay, please visit the following links:

• Dystrophie musculaire Canada (Muscular Dystrophy Canada)
• Corporation de recherche et d’action sur les maladies héréditaires (in French only)