Lafora Research Paper accepted for Madrid Neurology Symposium

We're delighted to announce that a research paper based on our Lafora Progression Study has been accepted for presentation at the European Society for Veterinary Neurology Symposium to be held in Madrid (18-20th September 2014).The paper will be presented by Lyndsay Swain and Anna Tauro who are based at Fitzpatrick Referrals. The Progression Survey was designed by our Pet Advisor Gill Key (LaforaDogs.org) and Dr. Clare Rusbridge to track the onset, symptoms, progression and treatment of Mini Wires with Lafora Disease.

Here's the Abstract:

LAFORA’S DISEASE IN THE MINIATURE WIREHAIRED DACHSHUND

Lafora disease (LD) is an autosomal recessive late onset, progressive myoclonic epilepsy with a high prevalence in the miniature wirehaired Dachshund (MWHD). Recent breed-wide testing suggests a carrier rate as high as 36%. EPM2B gene mutation results in intracellular accumulation of abnormal glycogen (Lafora bodies). A characteristic feature of the disease is spontaneous and reflex myoclonus; however clinical signs and disease progression are not well described.

A questionnaire was submitted to owners of MWHD which A) were homozygous for EPM2B mutation (breed club testing program) (24 dogs) and B) had late onset reflex myoclonus and veterinarian suspicion for LD but without genetic confirmation (17 dogs).

41 responses were received. 71% showed clinical signs consistent with LD, with 59% having a positive genetic test. 12 dogs had genetic susceptibility but had yet to develop signs of LD; these dogs were excluded leaving 29 dogs for analysis (12 male; 17 female). Average age of onset was 7 years (3.5 - 12). The most common presenting sign was photosensitive myoclonus (72%). Other early signs included sleep myoclonus (52%) and generalized seizures (41%). Less common signs were “jaw smacking” (31%), focal seizures (24%), fly catching (24%), anxiety (24%), impaired vision (14%), aggression towards other dogs (14%) and people (14%). Late signs (2 years or more after initial presentation) included dementia (24%), deafness (14%), faecal (14%) and urinary (14%) incontinence. Veterinary knowledge was poor; with 91% of primary veterinarians failing to recognise the signs of LD.

We hope to be able to publish the slides from the presentation after the Symposium.

Our Lafora Progression Study is still open for new submissions.