Lafora’s disease is an inherited, late onset, progressive myoclonic epilepsy. Myoclonus (jerking) is one common feature of the disease (often induced by flashing lights, sudden sounds and movement close to the dog’s head). Generalised or complex partial seizures (where the dog appears temporarily ‘absent’, ataxia (unsteadiness), blindness and dementia, including panic attacks, agression to other dogs/owners and incontinence can also be symptomatic.
(Keira, age 6, died aged just 8, having suffered 9 hours of continuous fitting. © Suzanne Butterworth. )
Lafora’s disease can occur spontaneously in any breed however the miniature wire-haired dachshund, Bassett hound and beagle are predisposed. Typically the first signs occur in animals over 5 years (average 7.5 years) age and both sexes can be affected. The beagle has a more severe version of the disease and the associated epilepsy can be drug resistant.
A layman’s explaination of why the symptoms occur:
Dogs cannot process starches into sugars efficiently. Lafora results in a build up of insoluble platelets (Lafora bodies) inside cells all over the body, including the central nervous system and brain, which means they interfere with the neurological system.
Lafora’s disease is caused by a mutation in the EPM2B (NHLRC1) a gene that encodes malin E3 ubiquitin ligase, a protein involved with carbohydrate metabolism. Early data suggests that these proteins safeguard neurons against accumulating too many carbohydrates. A characteristic feature of the disease is accumulation of toxic starch-like material (polyglucosan) within cells, particularly nervous, hepatic and muscle tissue. Lafora disease has an autosomal recessive inheritance i.e. both the sire and the dam will either carry ( no signs of the disease but can pass on the abnormal gene) or have the disease.
Think your dog might be affected? Go to our Resources page to download information to give to your Vet. The only reliable way to diagnose Lafora is by having the Blood Test.
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*(with thanks to Dr Clare Rusbridge, Veterinary Neurologist)