Spinocerebellar Ataxia (Terrier Type)

General Information: Spinocerebellar Ataxia is an early-onset, inherited neurologic disease in dogs, presenting with incoordination and balance loss between 2 to 6 months of age, characterized by a progressive "prancing" gait and muscle twitching episodes, which may resemble seizures but with awareness, increasing in severity with age and posing a risk of overheating. Affected dogs may also experience true epileptic seizures, leading to euthanasia typically by 2 years of age due to diminished quality of life.

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 KCNJ10 gene identifies carriers of spinocerebellar Ataxia, inherited in an autosomal recessive manner, necessitating two copies of the mutated gene for disease development. While carrier dogs typically do not show disease features, breeding them with another carrier increases the risk of producing affected pups, with each offspring having a 25% chance of inheriting the disease and a 50% chance of being a carrier. Ensuring reliable genetic testing is vital for informed breeding practices, discouraging mating between known carriers to prevent the transmission of the mutation and the birth of affected puppies, while unaffected dogs face no increased risk of having affected offspring.