Globoid Cell Leukodystrophy

Body function:

Immune & Autoimmune

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Globoid Cell Leukodystrophy, or Krabbe’s disease, is a fatal genetic disorder that occurs in terriers due to a mutation in the GALC gene. A deficiency of galactocerebrosidase affects the production of myelin, a substance that protects neurons. As a result, neurons fire incorrectly and deteriorate. Ultimately, this disease leads to death before 1 year of age.

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List of affected breeds:

Genetic research has linked this gene and condition in the following breeds:

Cairn Terrier, West Highland White Terrier

A brown dog with floppy ears is looking up at the camera with its mouth open and tongue out. The dog is standing in a field of tall grass.

What does this mean for a dog with this trait?

There is no known cure for globoid cell leukodystrophy. Symptoms of the disease may be treated to improve comfort and quality of life.

Symptoms

Dogs with globoid cell leukodystrophy begin to show symptoms between 1 and 4 months of age. Symptoms include irregular, jerky movements, loss of muscle tone and reflexes, and ataxia. Over time, dogs will experience blindness, paralysis, and ultimately death due to the genetic condition.

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