Glossary

Screening Scheme Description

DNA test - Lafora's

Details about the disease

Lafora’s disease is caused by a mutation in a gene which encodes for an enzyme involved in the breakdown of carbohydrates. Early data suggests that these enzymes prevent nerve cells from accumulating too many carbohydrates. A characteristic feature of the disease is accumulation of toxic starch-like material within cells, particularly nervous, liver and muscle tissue.

Clinical signs

Clinical effects of Lafora’s disease include rapid shuddering or jerking, which may be spontaneous or as a result of loud noise, flickering lights or sudden movement. Clinical signs typically occur in animals over 5 to 7 years of age and may progress slowly over many years. The disease progresses slowly over many years and gradually other neurological problems such as ataxia (loss of control of movement), blindness and dementia occur.

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 http://www.thekennelclub.org.uk/health/for-breeders/dna-testing-simple-inherited-disorders/worldwide-dna-tests/

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 http://bit.ly/2oSbtnn.

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 http://bit.ly/1jyCFnc.

 

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