The disease affects the brain’s ability to regulate normal electrical activity. In healthy dogs, neurons communicate through carefully controlled electrical signals. In dogs affected by Lafora disease, the buildup of Lafora bodies disrupts normal cellular function, making neurons increasingly unstable and prone to excessive electrical discharges. This results in seizures and progressive neurological decline over time.
Clinical signs of Lafora disease typically appear in adult dogs, often between 5 and 7 years of age, although onset can vary depending on breed and genetic background. One of the earliest and most common symptoms is myoclonic jerking, which involves sudden, brief, involuntary muscle contractions. These jerks may be triggered by light, sound, movement, or excitement. Over time, dogs may develop generalized epileptic seizures, characterized by loss of consciousness, muscle rigidity, paddling movements, and post-seizure disorientation.
As the disease progresses, affected dogs may also show additional neurological signs such as increased sensitivity to stimuli, difficulty walking, balance problems, behavioral changes, and cognitive decline. In later stages, seizure frequency often increases, and episodes may become more severe and harder to control with medication.
The Lafora DNA Health Test is designed to detect the specific genetic mutation associated with Lafora disease. Testing is simple, safe, and non-invasive, typically requiring a cheek swab or blood sample. The sample is analyzed in a specialized laboratory to determine whether the dog carries zero, one, or two copies of the mutation. Because DNA does not change throughout life, testing can be performed at any age, including in puppies before symptoms develop.
Results are generally reported in three categories:
- Clear (Normal): The dog does not carry the Lafora mutation and cannot pass it to offspring.
- Carrier: The dog carries one copy of the mutation but is typically unaffected. However, it can pass the mutation to future generations.
- Affected/At Risk: The dog carries two copies of the mutation and has a high likelihood of developing Lafora disease and associated progressive epilepsy.
Genetic testing for Lafora disease is extremely valuable for breeders, veterinarians, and dog owners. Breeders can use test results to make informed mating decisions that help reduce or eliminate the mutation from breeding populations while maintaining healthy genetic diversity. Avoiding carrier-to-carrier breeding is essential to prevent affected puppies.
For dog owners, understanding genetic status allows for early recognition and management of seizure disorders. Dogs identified as affected may benefit from anticonvulsant medications, environmental modifications, and careful monitoring to reduce seizure triggers and improve quality of life. While there is currently no cure for Lafora disease, medical management can help control symptoms and slow progression in some cases.
The Lafora Disease Health Test is a reliable genetic screening tool that supports responsible breeding practices, promotes canine neurological health, and helps reduce the impact of this inherited progressive epilepsy disorder in future generations.
