GM2 Gangliosidosis (Shiba Inu Type)

General Information: GM2 Gangliosidosis (GM2) ( (Shiba Inu Type) is a genetic lysosomal storage disorder affecting dogs, particularly the brain and nervous system, due to insufficient activity of the enzyme hexosaminidase B. This deficiency causes an accumulation of GM2 ganglioside, a glycoprotein, resulting in cellular damage. Affected dogs usually show neurological symptoms such as vision loss, difficulty walking, loss of balance, and head tremors between 9 to 12 months of age. The disease progresses rapidly, and affected dogs often die or are humanely euthanized shortly after diagnosis.

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 GM2 Gangliosidosis (GM2) (Shiba Inu Type) involves screening for mutations in the HEXA gene to determine carrier status. This disease 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 show 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. Dogs free from the mutation do not pose a risk of having affected puppies, making genetic testing an essential tool in responsible breeding practices.