Gangliosidosis GM2 is a fatal lysosomal storage disease, caused by a deficiency of β-hexosaminidase. It is characterized by an accumulation of GM2 ganglioside and related glycolipids, mainly in neurons. The clinical signs of affected dogs include progressive cerebellar ataxia, altered mental status and vision deficits and occur around 1 year of age. The affected dogs usually have to be euthanized due to progression of the disease.

Inheritance: autosomal recessive - read more

Mutation:

• Poodle, Shiba Inu: HEXB gene
• Japanese Chin: HEXA gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.