Lafora Body Disease, also known as Lafora disease or progressive myoclonic epilepsy type 2 (EPM2), is a rare, inherited, and progressive neurological disorder that primarily affects the central nervous system (CNS). It is characterized by the formation of abnormal deposits, known as Lafora bodies, in various tissues and organs of the body, particularly in the brain and muscles.
Lafora Body Disease typically begins in adolescence, between the ages of 10 to 18, although the symptoms and their severity may vary among affected individuals. The initial signs often include muscle weakness, uncontrolled muscle jerks or twitches (myoclonus), and recurrent seizures, particularly myoclonic and generalized tonic-clonic seizures. Over time, individuals with Lafora Body Disease experience progressive cognitive decline, including difficulty with memory, attention, and problem-solving skills, leading to dementia in later stages. Other symptoms may include visual hallucinations, depression, personality changes, and difficulty walking or coordinating movements.
The underlying cause of Lafora Body Disease is mutations in the EPM2A or EPM2B genes, which play a crucial role in regulating glycogen metabolism in the body. Due to the genetic mutations, abnormal glycogen-like particles accumulate in cells, resulting in the formation of Lafora bodies. These deposits disrupt cellular functions and eventually lead to the death of neurons in the brain.
Unfortunately, there is currently no cure for Lafora Body Disease, and treatment options aim to manage the symptoms and improve the quality of life. Antiepileptic medications, such as valproate or clobazam, may be prescribed to control the seizures, while other medications are used to manage associated symptoms. Additionally, physical and occupational therapy, along with psychological
