The miniature wirehaired dachshund is particularly susceptible to Lafora.

Study findings will help shape treatment for Lafora disease

A new study led by vets is giving fresh hope to children suffering from a severe form of epilepsy.

The research, published in PLOS ONE, set out to identify the progression of Lafora disease - a rare and inherited condition that affects some 50 youngsters worldwide.

Dogs can also contract Lafora disease, so vets assessed affected canines to better understand the disease and help develop an effective treatment.

The research was conducted by the University of Surrey's School of Veterinary Medicine in collaboration with Fitzpatrick Referrals, Surrey.

In the study, researchers surveyed the owners of 27 miniature wirehaired dachshund - a dog breed that is particularly susceptible to Lafora. The survey was carried out over the course of 12 months to detect the clinical signs and physical advancement of the condition.

Researchers found the most common signs of Lafora were reflex and spontaneous muscle contractions (77.8%), uncontrollable jerks (51.9%), and generalised seizures (40.7%). Less commons signs were ‘facial seizure’, ‘jaw smacking’, ‘fly catching’, ‘panic attacks’, and ‘aggression’.

The team hopes that their findings will help shape the development of a treatment for this disease, of which there is currently no cure.

“Lafora disease is a fatal disease that causes unbearable suffering for dogs and in rare cases young children,” commented Dr Clare Rusbridge, reader in veterinary neurology at the University of Surrey and chief neurologist at Fitzpatrick Referrals.

“Due to its rarity, little is known about the onset of this illness but what we have discovered, with the help of dog owners, is the clinical sign of Lafora helping to lead to quicker diagnosis. The more we learn about Lafora, the better chance we have of treating it effectively.”

Lafora disease is caused by a genetic mutation which leads to the build-up of glycogen in the body. This build-up affects the nervous system, leading to progressive seizures, loss of walking ability and dementia.

The discovery of the canine Lafora genetic mutation occurred in 2005 following a pioneering collaboration between Dr Rusbridge and The Hospital for Sick Children in Toronto. Thanks to increased awareness and testing, the number of litters bred with a risk of Lafora disease has fallen from 55 per cent to less than five per cent in just five years.