Neuronal Ceroid Lipofuscinosis 7

General Information: Neuronal Ceroid Lipofuscinosis 7 (NCL7) is a debilitating lysosomal storage disorder affecting dogs, characterized by a deficiency in a vital enzyme required for cell waste processing. This deficiency leads to the accumulation of lipofuscins, which are waste substances, within the neurons, impairing neural function. Dogs with NCL7 begin showing signs between 1 to 2 years of age, including changes in behavior, confusion, sensitivity to noise, vision impairment, loss of motor control, and seizures. The progression is rapid and severe, usually resulting in the necessity for humane euthanasia by the age of 2 to 3 years to prevent suffering as the condition inevitably worsens.

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 Neuronal Ceroid Lipofuscinosis 7 (NCL7) targets the MFSD8 gene to identify carriers or affected dogs. This disease is transmitted via an autosomal recessive pattern, meaning a dog needs to inherit two copies of the faulty gene to exhibit symptoms. Carrier dogs (those with one defective gene and one normal gene) do not show symptoms but can pass the defective gene 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 completely free of the mutated gene. It is crucial to test breeding dogs to manage and ideally eliminate this devastating condition from the gene pool. Breeders are advised against mating two carriers to prevent the birth of affected puppies. By utilizing genetic testing effectively, breeders can ensure healthier future generations and avoid the ethical and emotional challenges associated with raising affected puppies.