About recessive genetic disorders in some regions of Québec

Some recessive genetic disorders, also called recessive hereditary diseases, are more common in the regions of Saguenay–Lac-Saint-Jean, Charlevoix and Haute-Côte-Nord than elsewhere in Québec.

People whose ancestors come from these regions have a greater chance than the rest of the Québec population of having inherited a defective gene associated with any one of the following disorders:

• congenital lactic acidosis;
• recessive spastic ataxia of Charlevois-Saguenay;
• hereditary sensory motor neuropathy with or without agenesis of the corpus callosum;
• hereditary tyrosinemia type 1.

Defective genes can be detected through carrier screening tests. These tests are offered to people with at least one biological grandparent born in Saguenay–Lac-Saint-Jean, Charlevoix or Haute-Côte-Nord. For further details on the tests offered, the people who are eligible for them, and the process to get these tests, see the page 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.

If you want to learn more about the characteristics of defective gene carriers and about the transmission of a recessive genetic disorder, see the page Recessive hereditary disease transmission