Mucopolysaccharidosis IIIA / MPS IIIA / Sanfilippo A (SGSH-related) - Dachshund

What does this test examine?

This genetic test analyses the SGSH variant c.737_739delCCA in Dachshunds. The disorder is also known as mucopolysaccharidosis type IIIA, MPS IIIA and Sanfilippo syndrome type A. The variant disrupts heparan sulfate sulfamidase function, so glycosaminoglycans are not broken down properly and can accumulate in lysosomes.

What does this disorder mean?

In affected dogs, the nervous system is the main concern. The disease can cause slowly progressive spinocerebellar ataxia in adulthood, with loss of coordination of the limbs and head, sometimes with tremor and progressive movement problems. The test is useful for making carriers visible within lines before matings are planned.

Inheritance and result

The trait is inherited in an autosomal recessive manner. This means the combination of two altered copies is clinically important, while carriers can look healthy and still matter genetically for breeding.

• Clear: no copies of the tested variant detected.
• Carrier: one normal and one altered copy; the dog can pass the variant on.
• Affected: two altered copies; this genotype causes the variant-specific disorder.

Practical value of this test

The result supports targeted breeding: clear dogs, carriers and genetically affected dogs are clearly separated. This helps breeders avoid risk matings, manage carriers responsibly within a line and strongly reduce the chance of affected puppies without unnecessarily losing valuable genetic diversity.

• supports breeding selection and mating planning
• makes hidden carriers visible
• helps reduce the risk of affected puppies in a targeted way