Progressive Myoclonic Epilepsies (PME) refers to a group of rare neurological disorders characterized by a combination of progressive muscle jerks or spasms (myoclonus) and epileptic seizures. These conditions have a chronic and progressive nature, meaning that they gradually worsen over time, often leading to severe disabilities and a decline in overall functioning.
The term "myoclonus" refers to sudden, involuntary muscle contractions that can affect various parts of the body, including the limbs, trunk, and face. These myoclonic jerks are spontaneous and can occur at any time, interrupting daily activities and impairing coordination and movement control. In individuals with PME, myoclonus usually starts in childhood or adolescence and progressively becomes more frequent and severe.
PME encompasses a broad range of specific diseases, including Unverricht-Lundborg disease, Lafora disease, and myoclonic epilepsy with ragged red fibers (MERRF). Although each variant has unique characteristics and may be caused by different genetic mutations, they all share the common feature of progressive myoclonus and epileptic seizures.
The progressive nature of PME is often accompanied by a decline in cognitive function, leading to intellectual disability and dementia in some cases. Other neurological symptoms can also emerge, including ataxia (lack of muscle coordination), vision problems, and difficulties with speech and swallowing.
Currently, there is no known cure for progressive myoclonic epilepsies. Treatment primarily focuses on managing symptoms, reducing the frequency and intensity of myoclonus and seizures, and providing supportive care to enhance quality of life. Anticonvulsant medications, such as valproic acid and clonazepam, are commonly prescribed to control seizures and
