Lafora Disease
Lafora disease is a fatal, inherited form of epilepsy characterized by myoclonic jerks and seizures, primarily affecting certain dog breeds.
Detailed Description
Lafora disease is caused by a mutation in the NHLRC1 gene, resulting in abnormal glycogen accumulation in neurons. The disease progresses from myoclonic jerks to generalized seizures and dementia, and is ultimately fatal.
Common Symptoms
- Myoclonic jerks
- Generalized seizures
- Dementia
- Vision loss
Management Options
- Anti-epileptic drugs (limited efficacy)
- Supportive care
Frequently Asked Questions
Can Lafora disease be cured?
No, only symptomatic treatment is available.
How is Lafora disease diagnosed?
Definitive diagnosis is via genetic testing.
Should carriers be bred?
No, to prevent perpetuating the disease.
Is Lafora disease painful?
It is not painful, but it is debilitating.
Are all dogs at risk?
Primarily certain breeds, such as Miniature Wirehaired Dachshunds.
Condition Details
📅
Typical Age of Onset
5–7 years
📋
Testing Available
Yes
🔍
Diagnosing Methods
Clinical history and neurological examination; Genetic testing; EEG (rarely used in veterinary practice)
🛡️
Preventative Measures
Genetic testing of breeding dogs; Avoid breeding carriers or affected dogs
🔗
Related Conditions
Idiopathic epilepsy, Other forms of myoclonic epilepsy