Glossary

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 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.

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.

For advice on how to breed from your DNA tested dog, why not visit our information guide www.thekennelclub.org.uk/download/14960/breedingdna.pdf