Spinocerebellar Ataxia (Alpine Dachsbrake Type)

General Information: Spinocerebellar Ataxia (SA) (Alpine Dachsbrake Type) in dogs is a devastating inherited neurological condition that presents significant motor coordination challenges early in life. Symptoms become evident as affected puppies lag in developmental milestones compared to their normal littermates, specifically in their inability to develop balance and coordinated movements necessary to stand or walk. These puppies often exhibit head tremors, abnormal body movements, and a propensity to fall over easily. The severity of their condition typically leads to the decision to euthanize affected puppies by 10-12 weeks of age for humane reasons, as they are unable to lead a quality life due to the progressive and debilitating nature of the disease.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Unlikely Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing of the SCN8A gene is crucial for identifying carriers of Spinocerebellar Ataxia (SA) (Alpine Dachsbrake Type), which is inherited in an autosomal recessive pattern. This means that both parents must carry and pass on the mutated gene for their offspring to manifest the disease. Dogs that carry one copy of the mutation do not show symptoms but have a 50% chance of passing the mutation to their offspring when bred with another carrier, each of whose puppies has a 25% chance of being affected. To prevent the birth of affected puppies and manage the breed's genetic health, it is recommended not to breed carriers together. By utilizing genetic testing effectively, breeders can make informed decisions that help eliminate this debilitating mutation from the Alpine Dachsbrake population, ensuring healthier future generations.