Globoid Cell Leukodystrophy (Terrier Type)

General Information: Globoid Cell Leukodystrophy (GCL), also known as Krabbe disease or lysosomal storage disease, is a rare genetic disorder in dogs caused by a mutation that disrupts myelin production, the substance that protects nerve cells. This leads to nerve cell damage and symptoms such as tremors, muscle weakness, and incoordination. Symptoms typically appear in young puppies between one and six months old in smaller breeds, and between 18 months and five years in larger breeds. Affected dogs may also experience vision problems, behavior changes, and in severe cases, blindness, paralysis, and death within months after symptoms emerge. Breeds most commonly affected by GCL include West Highland White Terriers, Cairn Terriers, and Bluetick Coonhounds.

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 of the GALC gene identifies carriers of the mutation responsible for GCL. The disease is inherited in an autosomal recessive manner, requiring two copies of the mutated gene for a dog to be affected. Carrier dogs, with only one copy of the mutation, do not show symptoms but can pass the gene to offspring. Breeding two carriers results in a 25% chance of producing affected puppies and a 50% chance of producing carrier puppies. To eliminate the mutation and prevent affected litters, it is advised not to breed two carriers. Dogs testing negative for the mutation pose no increased risk of producing affected offspring.