Jordi Duran, PhD, Associate Professor at Institut Químic de Sarrià in Barcelona, and Niki Markou, parent of a child with Lafora disease, discuss the symptoms and pathophysiology of Lafora Disease.
Lafora disease is a rare neurodegenerative condition that often begins in adolescence with epileptic seizures but progresses rapidly with severe neurodegeneration. It is a genetic disease. Mutations in EMP2A and NHLRC1 genes account for most cases. These mutations lead to an accumulation of glycogen in cells that eventually are toxic – especially in the brain.
Children with this disease grow up relatively normally but in adolescence, the symptoms suddenly appear and progress rapidly. Common symptoms may include:
- Recurrent, Increasingly Intractable Seizures
- Cognitive Decline
- Ataxia
- Myoclonus
- Difficulty Walking
- Difficulty Eating
- Speech Difficulty
- Dementia
One possible treatment may be similar to another disease associated with glycogen accumulation, Pompe disease. The latter condition is treated with enzyme replacement therapy and that is one form of therapy being investigated for this disease.
A documentary about Lafora disease is available at www.fightingtherare.com/
To stay up-to-date on the latest neurologic disorders, visit checkrare.com/diseases/neurology-nervous-system-diseases/
