Progressive Myoclonus Epilepsy (PME) is a rare neurological disorder characterized by a combination of myoclonus, epilepsy, and a progressive decline in cognitive and motor functions. The disorder is predominantly inherited, meaning it is passed down from parents to their children through genetic mutations.
Myoclonus refers to brief, involuntary muscle contractions that can affect various parts of the body. In PME, myoclonus becomes progressively more severe over time, leading to frequent jerking movements and muscle twitching. These myoclonic movements can greatly impair an individual's ability to perform daily activities, such as walking, eating, and speaking.
Additionally, individuals with PME often experience seizures or epilepsy, which are recurrent episodes of abnormal electrical activity in the brain. Seizures in PME may manifest as generalized tonic-clonic seizures (involving loss of consciousness and convulsions) or as myoclonic seizures (characterized by sudden brief muscle contractions).
As the disorder progresses, cognitive and motor functions gradually deteriorate, leading to difficulties with thinking, memory, coordination, and balance. This decline may result in the loss of independent living skills and significant disability.
Thus, Progressive Myoclonus Epilepsy is a complex and incurable condition characterized by the combination of myoclonus, epilepsy, and progressive decline in cognitive and motor abilities. The disorder typically has a genetic basis and leads to significant disability and impairment in affected individuals.
