GM2 Gangliosidosis (Poodle Type)

General Information: GM2 Gangliosidosis (GM2) (Poodle Type) is a hereditary lysosomal storage disorder that impacts dogs, particularly affecting the brain and nervous system. This condition results from insufficient activity of the enzyme hexosaminidase B, which is crucial for breaking down certain carbohydrates within cells. The lack of this enzyme leads to an accumulation of GM2 ganglioside, a glycoprotein, causing cellular damage. Dogs with GM2 typically exhibit symptoms between 9 to 12 months of age, including vision loss, difficulty walking, loss of balance, head tremors, and vomiting. Unfortunately, the disease progresses rapidly, and affected dogs often do not survive beyond 18 to 23 months.

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) (Poodle Type) involves screening for mutations in the HEXB gene to determine if a dog is a carrier. This disorder is inherited in an autosomal recessive pattern, meaning a dog must inherit two copies of the mutated gene, one from each parent, to develop the disease. Carriers typically do not 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 essential to avoid breeding two carriers. Dogs free from the mutation do not pose a risk of having affected puppies, making genetic testing a vital tool in responsible breeding practices.