Gangliosidosis is an inherited error of lipid metabolism, also known as a 'lysosomal storage disease'. An autosomal recessively inherited deficiency of acid β-galactosidase activity affects brain and multiple systemic organs.
Toy Poodle and Shiba Inu dogs affected with GM2- gangliosidosis develop nervous system clinical signs including vision loss, walking difficulties, loss of balance, tremors, cerebellar ataxia, decreased appetit and vomiting. First symptoms appear around 9 to 12 months of age, the disease progression is rapid and dogs usually die after few months.
Inheritance: autosomal recessive - read more
Mutation: HEXB 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.