Neuronal Ceroid Lipofuscinosis 6

General Information: Neuronal Ceroid Lipofuscinosis 6 (NCL6) is an inherited lysosomal storage disorder that affects dogs, leading to the buildup of waste compounds in the nervous system due to a deficiency in a specific enzyme. This results in a range of severe neurological symptoms that typically emerge around 1.5 years of age. Affected dogs may exhibit progressive loss of vision, changes in behavior, anxiety, lack of muscle coordination, and abnormal gait. As the disease advances, these symptoms become more pronounced, often leading to the need for humane euthanasia by 2 years of age due to the debilitating effects of the disorder.

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 the CLN6 gene is crucial for identifying carriers and affected dogs of Neuronal Ceroid Lipofuscinosis 6 (NCL6). This disease follows an autosomal recessive inheritance pattern, which means that a dog must inherit two copies of the mutated gene, one from each parent, to develop the condition. Carrier dogs, which have one normal and one mutated gene, typically do not show symptoms but can pass the mutation to their offspring. Breeding two carriers is risky, as each puppy has a 25% chance of being affected by the disease and a 50% chance of being a carrier. Reliable genetic testing for the CLN6 mutation allows breeders to make informed decisions, helping to avoid the production of affected puppies and eliminating the mutation from breeding lines. This ensures the health and well-being of future generations, reducing the prevalence of NCL6 and promoting healthier dogs in susceptible breeds.