GM-1 is caused by the absence
or significant reductiion of a vital
enzyme
called beta-galactosidase.
Gangliosidosis-1 (GM-1) is a progressive neurological genetic disorder caused by the absence of a vital enzyme. It is one of over 50 genetically inherited disorders known as Lysosomal Storage Diseases.
Classic Infantile GM-1 - Symptoms appear within the first 6 months of age and may be apparent at birth.
Juvenile GM-1 - Symptoms appear after the first year of life, typically between ages 2 and 5, but can occur anytime during childhood.
Late Onset GM-1 - Symptoms typically appear in adolescence or early adulthood, but sometimes later.
Anyone can be a carrier of GM-1. When both parents are carriers, each child has a 25% of having the disease. The carrier rate for the general population is 1/250. Some evidence suggests people of Irish / British Isle descent have an increased risk over the general population between 1/50 to 1/150. French Canadians, Louisiana Cajuns and Ashkenazi Jews are all considered high risk with a carrier rate of 1/27.
Talk to your doctor about genetic counseling to discuss your options before starting your family.
Causes - GM-1 is caused by the absence of a vital enzyme called beta-galactosidase (GLB1) .
Research - To date, there is no treatment or cure for GM-1 disease but there is exciting ongoing research.
History - Dr. Landing first described the disease in 1964.
