GM1 Gangliosidosis (Shiba Inu Type)

General Information: GM1 Gangliosidosis (GM1) (Shiba Inu Type) is a genetic lysosomal storage disorder that significantly impacts dogs, particularly the brain and nervous system. This condition results from insufficient activity of the enzyme beta-galactosidase, which is essential for breaking down specific carbohydrates within cells. The enzyme deficiency leads to the accumulation of GM1 and other breakdown products in cells, causing cellular damage. Affected dogs typically show symptoms around 5 to 6 months of age, including vision loss, difficulty walking, loss of balance, head tremors, lethargy, and weight loss. By 9 to 12 months, affected dogs become lethargic, develop cloudy corneas, and may experience involuntary muscle contractions. The disease progresses rapidly, and dogs usually die by 15 months 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) (Shiba Inu 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 for responsible breeding practices, ensuring that dogs that are not carriers of the mutation do not pose a risk of producing affected puppies.