Cerebellar Ataxia (RALGAPA1)

General Information: Cerebellar Ataxia (RALGAPA1) is an inherited neurological disorder in dogs characterized by progressive loss of coordination and balance due to cerebellar dysfunction. This condition results from a genetic mutation in the RALGAPA1 gene, which plays a crucial role in normal neuronal function. Dogs with two copies of the associated mutation are predisposed to Cerebellar Ataxia, which can manifest at an early age. Symptoms include uncoordinated movements, tremors, difficulty walking, and a wide-based stance. As the disease progresses, it can lead to severe mobility issues and significantly impact the dog's quality of life. While dogs with one copy of the mutation (carriers) typically do not show symptoms, they can pass the gene to their offspring. Early detection through genetic testing and informed breeding practices are essential for managing and potentially reducing the prevalence of Cerebellar Ataxia.

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 RALGAPA1 gene can determine if a dog is a carrier of Cerebellar Ataxia. This condition is inherited in an Autosomal Recessive manner, meaning that dogs must inherit two copies of the mutated gene, one from each parent, to develop the disease. Carrier dogs, possessing only one copy of the mutation, typically do not show symptoms but can pass the gene to their offspring. When two carriers are bred, each pup has a 25% chance of developing the disease and a 50% chance of being a carrier. Reliable genetic testing is crucial for informed breeding practices to eliminate this mutation from breeding lines, and breeding two carriers together is not recommended to avoid producing affected pups. Dogs that are not carriers have no increased risk of having affected offspring.