Globoid Cell Leukodystrophy (Irish Setter Type)

General Information: Globoid Cell Leukodystrophy (GLD) (Irish Setter Type) is a genetic lysosomal storage disorder that affects dogs, typically manifesting between 3 to 6 months of age. Initially, affected dogs appear normal at birth, but as they age, they begin to show signs of muscle weakness and uncoordinated movements due to a deficiency of the enzyme galactocerebrosidase. This enzyme is crucial for breaking down myelin in the nervous system, and its deficiency leads to abnormal accumulations of fatty myelin by-products, impairing the function of nerve cells. Symptoms of GLD include crossing legs while walking, a widely spaced stance, jerky movements, high stepping, and body tremors. Affected dogs also exhibit decreased muscle tone and reduced or absent reflexes. As the disease progresses, blindness, paralysis, and death can occur.

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 Globoid Cell Leukodystrophy (GLD) (Irish Setter Type) involves screening for mutations in the GALC gene to determine carrier status. This disorder is inherited in an autosomal recessive manner, meaning a dog must inherit two copies of the mutated gene, one from each parent, to develop the disease. Carriers do not typically exhibit symptoms but can pass the mutation to their offspring. When two carriers are bred, each puppy has a 25% chance of being affected and a 50% chance of being a carrier. To prevent producing affected puppies and eliminate the mutation from breeding lines, it is crucial to avoid breeding two carriers. Genetic testing is essential before breeding to ensure responsible practices, as dogs that are not carriers of the mutation do not pose a risk of producing affected puppies.