Progressive Myoclonic Epilepsies (PME)

Progressive Myoclonic Epilepsies (PME) refer to a group of genetic conditions characterized by gradually worsening motor skills and cognitive abilities. Individuals with PME experience frequent muscle jerks which may be induced by stimuli like flashing lights, stress, and rapid movements. They may also experience muscle tensions which may lead to falling down and convulsions. PME often develops between 6 to 16 years old. Currently, there is no cure and the treatments are generally symptomatic.

For instance, the most common form of PME is progressive myoclonus 1 (also called EPM1, Baltic myoclonus and epilepsy, or Unverricht-Lundborg Disease). It is characterized by difficulties in speaking clearly and swallowing, and tremors. The symptoms of the onset are myoclonic jerks (hyperlink) and tonic-clonic seizures (hyperlink). Most cases of this genetic disease come from the Baltic region in Europe. The other types of PME include Lafora Disease, Batten Disease, Myo-clonus-renal Failure Syndrome, North Sea Progressive Myoclonus Epilepsy, and Sialidosis.