Lafora disease
Lafora disease is a rare genetic disorder that primarily affects the brain and muscles. It is characterized by the accumulation of abnormal sugar molecules called Lafora bodies in cells, leading to progressive neurological decline. Symptoms typically begin in late childhood or early adolescence and may include seizures, cognitive decline, and loss of motor skills.
The condition is caused by mutations in specific genes, most commonly EPM2A and EPM2B. There is currently no cure for Lafora disease, and treatment focuses on managing symptoms, particularly seizures. The prognosis is generally poor, with many individuals experiencing significant disability over time.