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