About recessive genetic disorders in some regions of Québec
Some recessive genetic disorders, also called “recessive hereditary disorders," are more common in the regions of Saguenay–Lac-Saint-Jean, Charlevoix and Haute-Côte-Nord.
Recessive spastic ataxia of Charlevoix-Saguenay
Recessive spastic ataxia of Charlevoix-Saguenay is one of the most common recessive genetic disorders in some regions of Québec
Hereditary motor sensory neuropathy with or without agenesis of the corpus callosum
Hereditary motor sensory neuropathy is a neuromuscular disorder affecting the nerves responsible for body movements.
Hereditary tyrosinemia type 1
Hereditary tyrosinemia type 1 is a liver disease caused by an enzyme deficiency, fumarylacetoacetate hydrolase (FAH).
Congenital lactic acidosis
Congenital lactic acidosis is a disease caused by an enzyme deficiency, cytochrome c oxidase.
Offer of carrier screening tests for four recessive genetic disorders in people from the regions of Saguenay–Lac-Saint-Jean, Charlevoix and Haute-Côte-Nord
The offer of carrier screening tests is intended for people from the regions of Saguenay–Lac-Saint-Jean, Charlevoix, and Haute-Côte-Nord who want children.
Last update: November 21, 2022
