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Recessive hereditary diseases
Autosomal recessive hereditary diseases in people from the Saguenay–Lac-Saint-Jean, Charlevoix and Haute-Côte-Nord regions

Autosomal recessive hereditary diseases in people from the Saguenay–Lac-Saint-Jean, Charlevoix and Haute-Côte-Nord regions

Autosomal recessive spastic ataxia of Charlevoix-Saguenay

Autosomal recessive spastic ataxia of Charlevoix-Saguenay is a neuromuscular disorder that affects the spinal cord and the nerves that control movement, balance and coordination.

Congenital lactic acidosis

Congenital lactic acidosis is a disease caused by a deficiency of the enzyme cytochrome c oxidase, which is essential for the human body to function properly.

Hereditary tyrosinemia type 1

Hereditary tyrosinemia type 1 is a liver disease caused by the absence of activity of an enzyme, fumarylacetoacetate hydrolase (FAH).

Hereditary sensory motor neuropathy

Hereditary sensory motor neuropathy is a neuromuscular disorder that affects the nerves that control body movements. It is often accompanied by a defect of the corpus callosum.

Mucolipidosis type 2

Mucolipidosis type 2 is a disease caused by abnormal lysosome function, which can cause problems in the muscles, heart, lungs and liver.

Zellweger spectrum disorder

Zellweger spectrum disorder is a rare disorder that affects the functioning of peroxisomes, leading to problems in multiple organs.

Carrier screening for autosomal recessive hereditary diseases in people from the Saguenay–Lac-Saint-Jean, Charlevoix and Haute-Côte-Nord regions

Carrier screening offers for autosomal recessive hereditary diseases in people from the Saguenay–Lac-Saint-Jean, Charlevoix and Haute-Côte-Nord regions.

Last update: June 20, 2025