Mucolipidosis type 2

Mucolipidosis type 2 is one of the most common autosomal recessive hereditary diseases in the following regions of Quebec:

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

Mucolipidosis type 2 is an autosomal recessive hereditary disease caused by abnormal lysosome function. Lysosomes are found in every cell of the body. Their role is to recycle the waste produced by the cells. In children with this condition, waste accumulates in their cells, which can cause problems in the muscles, heart, lungs and liver.

The symptoms of mucolipidosis type 2 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);
• severe growth retardation;
• skeletal abnormalities (e.g., a chest deformity);
• intellectual disability (e.g., the child needs help with learning);
• distinct facial features;
• excessive hair growth (all hair on one region of the body);
• eye problems;
• clubfeet (deformities of the feet);
• breathing difficulties;
• difficulty feeding (e.g., the child needs to be fed through a tube in the stomach);
• heart, liver and spleen problems.

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 cure mucolipidosis type 2 or to prolong life. Management of the disease focuses on relieving or reducing the symptoms.

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

Over the months and years, mucolipidosis type 2 can lead to serious complications. Death usually occurs in childhood.

Mucolipidosis type 2 is an autosomal recessive hereditary disease.

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

It is impossible to prevent mucolipidosis type 2 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.

For help or information on mucolipidosis type 2, go to the following sites:

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