Zellweger spectrum disorder

Zellweger spectrum disorder is one of the most common autosomal recessive hereditary diseases in the following regions of Quebec:

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

Zellweger spectrum disorder is a rare autosomal recessive hereditary disease that affects the functioning of peroxisomes, small structures in body cells that help remove fats produced by the body. When peroxisomes do not function properly, fats accumulate in the cells of affected children and this leads to problems in multiple organs, such as the brain, liver, kidneys and muscles.

The symptoms of Zellweger spectrum disorder include:

• hypotonia (poor muscle tone) (e.g., the child's body is softer than normal);
• delayed motor development (e.g., the child sits and walks later than expected for their age);
• growth retardation;
• skeletal abnormalities (e.g., a chest deformity);
• intellectual disability (e.g., the child needs help with learning);
• distinct facial features;
• difficulty feeding (e.g., the child needs to be fed through a tube in the stomach);
• blindness;
• deafness;
• epilepsy (seizures in the form of involuntary body movements, loss of consciousness and stiffness);
• renal cysts (fluid-filled pockets that form in or on a kidney);
• abnormalities in the brain (e.g., hypoplasia [incomplete development of a part of the brain]).

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

At this time, there is no treatment to alleviate the signs and symptoms of the disease or to prolong life. However, care can help improve the quality of life of affected children.

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

Most affected children do not survive beyond their first year of life, often due to respiratory problems related to infection or epileptic seizures that are difficult to control.

Zellweger spectrum disorder is an autosomal recessive hereditary disease.

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

It is impossible to prevent Zellweger spectrum disorder in newborns who have received a copy of the variant in a gene from each of their biological parents. However, the variant(s) 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.

For help or information on Zellweger spectrum disorder, visit the following sites:

• Corporation de recherche et d’action sur les maladies héréditaires (in French only)