Neuroaxonal Dystrophy (Papillon Type)

General Information: Neuroaxonal Dystrophy (NAD) in Papillons is a devastating neurological condition that usually manifests between 1 to 4 months of age. Early symptoms include an abnormal gait, hindlimb weakness, and pronounced incoordination. The condition deteriorates swiftly, resulting in complete paralysis, blindness, and an inability to eat independently. Other common signs include limb extension, tremors, and loss of hearing. Due to the rapid progression and severe impact on quality of life, affected dogs are often euthanized within months of the onset of clinical signs.

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 Neuroaxonal Dystrophy (NAD) in Papillons focuses on detecting mutations in the PLA2G6 gene. This disorder is inherited in an autosomal recessive pattern, requiring a puppy to inherit two mutated genes (one from each parent) to exhibit symptoms. Carrier dogs, which possess only one copy of the mutated gene, typically show no symptoms but can pass the mutation to their offspring. Breeding two carriers results in a 25% chance of producing affected offspring and a 50% chance of producing another carrier. To prevent the propagation of this debilitating condition, it is advised not to breed carriers together. Testing is crucial to identify carriers and manage breeding choices effectively, aiming to eliminate this mutation from the gene pool and prevent the birth of affected puppies. As with many genetic conditions, a normal test result for PLA2G6 does not rule out other potential genetic disorders that might cause similar symptoms.