neuronal ceroid lipofuscinosis (Weimaraner)

General Information: Neuronal Ceroid Lipofuscinosis (NCL) in Weimaraners is an inherited neurodegenerative disorder caused by a mutation in the CNP gene. This condition primarily affects the nervous system, leading to progressive neurological deterioration. NCL in Weimaraners is inherited in an Autosomal Recessive manner, meaning that a dog must inherit two copies of the mutated gene (one from each parent) to be affected.

Symptoms of NCL typically begin to appear in young dogs, often between 2 to 4 years of age, and may include changes in behavior, difficulty with movement, visual impairment, and seizures. As the disease progresses, dogs may experience a loss of coordination, progressive blindness, and a general decline in motor function. Unfortunately, there is no cure for NCL, and affected dogs usually experience a reduced quality of life, leading to early euthanasia in many cases. Supportive care can help manage symptoms, but the progression of the disease is ultimately irreversible.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Likely a Carrier

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing for the CNPase gene variant can determine whether a Weimaraner is at risk of developing Neuronal Ceroid Lipofuscinosis (NCL). This disorder is inherited in an Autosomal Recessive manner, meaning that a dog must inherit two copies of the mutated gene to show symptoms. Affected dogs will have two copies of the mutation, while carriers have one copy and do not show symptoms of the disease. Dogs with no copies of the mutation will not be affected or carry the disease.

Genetic testing is essential for responsible breeding practices, as breeding an affected dog with a carrier or an unaffected dog could lead to affected or carrier offspring. Breeding two carriers together carries a 25% chance of producing affected puppies, making genetic testing a crucial tool in minimizing the risk of passing on this debilitating condition.