GM1 Gangliosidosis (Alaskan Husky Type)

General Information: GM1 Gangliosidosis (GM1) (Alaskan Husky Type) is a genetic lysosomal storage disorder that primarily affects the brain and nervous system of dogs. This condition results from insufficient activity of the enzyme beta-galactosidase, which is crucial for breaking down specific carbohydrates in cells. Due to this enzyme deficiency, GM1 and other breakdown products accumulate in cells, leading to cellular damage. Affected dogs typically show symptoms between 1 to 3 months of age, including nystagmus (rapid eye movement), difficulty walking, loss of balance, head tremors, and weight loss. Additionally, these dogs often exhibit abnormal bone growth and proportional dwarfism. Once symptoms appear, the disease progresses rapidly, usually resulting in death by one year of age.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Unlikely Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing for GM1 Gangliosidosis (GM1) (Alaskan Husky Type) involves screening for mutations in the GLB1 gene to determine carrier status. This disorder is inherited in an autosomal recessive manner, meaning a dog must inherit two copies of the mutated gene, one from each parent, to develop the disease. Carriers do not typically exhibit symptoms but can pass the mutation to their offspring. When two carriers are bred, each puppy has a 25% chance of being affected and a 50% chance of being a carrier. To prevent producing affected puppies and eliminate the mutation from breeding lines, it is crucial to avoid breeding two carriers. Genetic testing is essential before breeding, as dogs that are not carriers of the mutation do not pose a risk of producing affected puppies, ensuring responsible breeding practices.