Spinocerebellar ataxia 2 / SCA2 (SCN8A-related) - Alpine Dachsbracke

What does this test examine?

This genetic test analyses the SCN8A variant c.4898G>T in the Alpine Dachsbracke. The condition is known as spinocerebellar ataxia 2, SCA and hereditary cerebellar ataxia.

What does spinocerebellar ataxia mean?

Affected puppies show signs of cerebellar dysfunction from around three weeks of age. They may develop ataxia, tremors, loss of balance, falling, movement problems and reduced vision. The disorder is severe and has major implications for welfare and breeding decisions.

Inheritance and result

The trait is autosomal recessive. Clear dogs do not carry the tested variant, carriers have one copy and affected dogs have two copies. Carriers are usually clinically normal but can pass the variant to offspring.

Practical value of this test

• Breeders can identify carriers before mating and avoid affected puppies.
• The result helps explain early balance and coordination problems genetically.
• Targeted mate selection lowers risk in the line without automatically excluding healthy carriers.