Recessive spastic ataxia of Charlevoix-Saguenay

Description

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.

Symptoms

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

  • spasticity (stiffness) of the legs
  • problems with balance when learning to walk, loss of balance, falls, unsteady gait resembling that of a person who is drunk.
  • poor muscle control of the arms and hands (ataxia).This problem hinders fine motor skills such as writing and performing some activities of daily living;
  • hand and feet deformities
  • speech problems: pronunciation is slow, slurred and difficult.

Spastic ataxia of Charlevoix-Saguenay does not lead to cognitive delay. However, half of the children and adolescents affected with this disease have academic learning disabilities. They must often follow a special education curriculum.

Treatments

There is no treatment to cure spastic ataxia of Charlevoix-Saguenay. Surgeries and different therapies can nevertheless help reduce or delay some of the symptoms of the disorder.

Complications

Over the years, spastic ataxia of Charlevoix-Saguenay may lead to the following complications in affected people:

  • loss of autonomy owing to the slow and steady progression of the symptoms
  • between the ages of 20 and 35 years, they must use a cane or walker to get around
  • by the ages of 35 to 40 years, they must use a wheelchair
  • in their 40s, they need more and more help to perform activities of daily living.

Teams of professionals in the health and social services system provide therapy and care for affected people. These teams consist of neurologists, nurses, physiotherapists, occupational therapists and orthopedists.

Transmission

Spastic ataxia of Charlevoix-Saguenay is a recessive genetic disorder.

To find out more, see the page Transmission d’une maladie héréditaire récessive.

Protection and prevention

It is impossible to prevent recessive spastic ataxia of Charlevoix-Saguenay in newborns who have received a copy of a defective gene from each of their two parents. However, the defective gene responsible for this disorder can be detected through a simple, quick and inexpensive screening test.

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

These tests are offered to anyone who:

  • is over the age of 18 years
  • wants children
  • has at least one biological grandparent born in one of the following three regions:
    • Saguenay–Lac-Saint-Jean
    • Charlevoix
    • Haute-Côte-Nord

In these regions, 1 in 1900 newborns is affected with recessive spastic ataxia of Charlevoix-Saguenay. Furthermore, 1 in 22 people carries the defective gene responsible for this disorder.

To learn more about carrier screening, see the page Offre de tests de porteur pour 4 maladies héréditaires récessives chez les personnes originaires des régions du Saguenay–Lac-Saint-Jean, de Charlevoix et de la Haute-Côte-Nord.

Help and resources

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

Last update: November 21, 2022

Notice

Information on the website in no way replaces the opinion of a health professional. If you have questions concerning your health status, consult a professional.

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