GM2 Gangliosidosis (Poodle Type) - Other Names: Sandhoff disease
GM2 gangliosidosis (poodle type) is an inherited Lysosomal Storage Disorder affecting dogs. Affected dogs have insufficient activity of the Enzyme hexosaminidase B, which is responsible for breaking down specific carbohydrates in the cells. As a result, there is an accumulation of a glycoprotein, GM2 ganglioside, in cells, especially cells of the brain and nervous system. Affected dogs typically present with symptoms of neurologic disease around 9 to 12 months of age. Symptoms include vision loss, difficulties walking, loss of balance, head tremors and vomiting. Once an affected dog begins to show signs of the disease, the disease progression is rapid and dogs usually die between the ages of 18 and 23 months.
Breed-Specific Information for the Standard Poodle
Standard poodle is included as a breed susceptible to GM2 gangliosidosis (poodle type) because of its close relatedness to the toy poodle breed, which is known to develop this disease due to Mutation of the HEXB gene. The frequency of the causal mutation in the general standard poodle population is unknown.
Gene Tested : HEXB