Screening Scheme Description

DNA test - GSDII
Glycogen Storage Disease Type II (Pompe's Disease)

Details about the disease

GSDII is caused by an enzyme deficiency that leads to abnormal glucose levels in tissues such as cardiac (heart), skeletal and smooth muscle.

Clinical signs

Clinical signs of affected dogs usually occur around 7 months of age and include vomiting, regurgitation, progressive muscle weakness, exercise intolerance and heart problems. Affected dogs usually die around 1.5-2 years of age.

How it is inherited

The disease is described as an autosomal recessive condition. This means that a dog must inherit two copies of an abnormal gene (one from its mother and one from its father) before its health is affected. A dog that inherits only one copy of the abnormal gene (from its mother or its father) will have no signs of the disease, but will be a carrier and may pass the gene on to any offspring.

Which laboratories test for this condition?

A list of laboratories and DNA tests can be found at the following link

How to responsibly breed from your DNA tested dog

If, once your dog is DNA tested, you would like to find out what their DNA test results mean, or how to select the right mate to avoid producing affected puppies, then please read our breeding advice and information on the following link

How to find out if a potential mate has been DNA tested

The Kennel Club’s “Health Test Results Finder” allows you to find the results of DNA tests carried out as part of official Kennel Club DNA testing schemes for any dog on the Kennel Club’s breed register. To access this free health tool, please follow this link


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