New hope is being given to children who suffer from a rare and severe form of epilepsy, thanks to unique research carried out by the University of Surrey’s School of Veterinary Medicine and Fitzpatrick Referrals in Surrey.
Lafora disease is a devastating form of epilepsy caused by gene mutation, leading to abnormal levels of glycogen in the body. It affects up to 50 young children worldwide and can also affect dogs, causing progressive seizures, dementia and loss of walking ability in both. Research has identified the progression of the disease and an examination of affected canines will help develop effective treatment which can be used to treat children with the illness.
Working with specialists in the human form of Lafora at The Hospital for Sick Children in Toronto, researchers surveyed the owners of 27 miniature wirehaired Dachshund, a breed with a high prevalence of the illness, over the course of 12 months to uncover the clinical signs and physical advancement of the disease.
Researchers discovered that the most common clinical sign of Lafora is reflex and spontaneous muscle contractions, uncontrollable jerks and generalised seizures. Other common signs include ‘focal seizures’, ‘jaw smacking,’ ‘fly catching’, ‘panic attacks’ and ‘aggression.’
Dr Clare Rusbridge, Reader in Veterinary Neurology at the University of Surrey and Chief Neurologist at Fitzpatrick Referrals, said, “Lafora disease is a fatal disease that causes unbearable suffering for dogs and in rare cases young children.
“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.”
The longstanding relationship between Dr Rusbridge and the Hospital for Sick Children in Toronto has led to ground breaking discoveries between human and veterinary medicine, including the canine Lafora genetic mutation in 2005. The Wirehaired Dachshund Club and Dachshund Breed Council have campaigned to increase awareness of testing for the disease in breeding animals and in just five years, the proportion of litters breed with a risk of Lafora-affected puppies has been reduced from 55 percent to under 5 percent.