Spinocerebellar Ataxia (Alpine Dachsbrake Type)

Common Symptoms

Spinocerebellar Ataxia (Alpine Dachsbrake Type) is an inherited neurologic disease affecting dogs. Symptoms present shortly after birth when normal littermates develop coordinated movement. Affected puppies do not develop the balance necessary to stand or walk normally. Affected dogs may have head tremors, abnormal body movements, and often fall over. Due to the severity of disease, affected puppies are usually euthanized by 10-12 weeks of age.

Testing Tips

Genetic testing of the SCN8A gene will reliably determine whether a dog is a genetic Carrier of Spinocerebellar Ataxia (Alpine Dachsbrake Type). This disease is inherited in an Autosomal Recessive manner in dogs meaning that they must receive two copies of the mutated gene (one from each parent) to develop the disease. In general, carrier dogs do not have features of the disease but when bred with another carrier of the same Mutation, there is a risk of having affected pups. Each pup that is born to this pairing has a 25% chance of inheriting the disease and a 50% chance of inheriting one copy and being a carrier of the SCN8A gene mutation. Reliable genetic testing is important for determining breeding practices. In order to eliminate this mutation from breeding lines and to avoid the potential of producing affected pups, breeding of known carriers to each other is not recommended. Dogs that are not carriers of the mutation have no increased risk of having affected pups.

There may be other causes of this condition in dogs and a normal result does not exclude a different mutation in this gene or any other gene that may result in a similar genetic disease or trait.

References

• Letko A, Dietschi E, Nieburg M, Jagannathan V, Gurtner C, Oevermann A, Drögemüller C. A Missense Variant in SCN8A in Alpine Dachsbracke Dogs Affected by Spinocerebellar Ataxia. Genes (Basel). 2019 May 10;10(5):362. [PubMed: 31083464]