Lafora Progressive Myoclonic Epilepsy (LPME) is a rare and fatal genetic disorder characterized by a combination of progressive myoclonus (muscle jerks) seizures and neurological decline. It is named after the Spanish neuropathologist Gonzalo Rodriguez Lafora, who first described the disease in 1911. LPME belongs to a group of disorders known as the progressive myoclonic epilepsies.
LPME is caused by mutations in specific genes that affect the formation and breakdown of a complex sugar-like substance called glycogen. Normally, glycogen is stored in the body's cells to provide energy when needed. However, in LPME, glycogen is improperly formed and accumulates in the cells of the brain and other tissues. Over time, these abnormal glycogen deposits lead to the formation of insoluble clumps known as Lafora bodies, which interfere with normal cellular function and ultimately cause the symptoms of the disease.
The symptoms of LPME typically appear in adolescence, usually between the ages of 10 and 18. They include progressive myoclonus seizures, characterized by sudden, brief muscle jerks, which can affect various parts of the body and become more frequent and severe over time. Other symptoms may include cognitive decline, difficulty with speech and coordination, dementia, and mood disturbances. The progression of LPME is relentless, leading to progressive neurological deterioration and ultimately resulting in premature death, usually within 10 to 15 years after onset.
Currently, there is no cure for LPME, and treatment strategies focus on managing the symptoms and improving the quality of life. These may involve medications to control seizures, physical therapy to help maintain mobility, and supportive care to address the cognitive and behavioral aspects of the disease. Research efforts are ongoing to better
