Hereditary Ataxia (Australian Shepherd Type)

General Information: Hereditary Ataxia (HA) in Australian Shepherds manifests as a progressive, early-onset neurological disorder that typically presents between 4 to 19 months of age. Initially, affected dogs exhibit uncoordinated movements and a loss of balance, evolving into a distinctive prancing gait characterized by exaggerated and stiff leg movements. As the condition advances, the dogs experience increasing difficulty with standing and walking unassisted, often leading to a severe impairment that significantly affects their quality of life. Due to these challenges and the progressive nature of the disease, many affected dogs are humanely euthanized by the age of four to alleviate suffering.

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 for Hereditary Ataxia (HA) in Australian Shepherds targets the PNPLA8 gene, which can determine whether a dog is a carrier or affected by this condition. The disease follows an autosomal recessive inheritance pattern, requiring a puppy to inherit two copies of the defective gene—one from each parent—to exhibit symptoms. Dogs carrying only one copy of the gene do not show any signs of the disease but can pass the mutation to their offspring. When two carriers are bred, each puppy has a 25% chance of being affected, a 50% chance of being a carrier, and a 25% chance of being clear. Responsible breeding practices, supported by reliable genetic testing, are essential to prevent the propagation of this debilitating condition. It is recommended to avoid breeding carriers together to eliminate the mutation from breeding lines and minimize the risk of producing affected offspring. Moreover, a normal test result does not rule out other genetic diseases that can cause similar symptoms, underscoring the importance of comprehensive genetic screening for the health of the breed.