Progressive Myoclonic Epilepsies (PME) are a rare group of inherited neurodegenerative diseases characterized by myoclonus, resistance to treatment, and neurological deterioration.[2] The cause of PME depends largely on the type of PME. Most PMEs are caused by autosomal dominant or recessive and mitochondrial mutations.[2] The location of the mutation also affects the inheritance and treatment of PME. Diagnosing PME is difficult due to their genetic heterogeneity and the lack of a genetic mutation identified in some patients.[3] The prognosis depends largely on the worsening symptoms and failure to respond to treatment. There is no current cure for PME and treatment focuses on managing myoclonus and seizures through antiepileptic medication (AED).[3][2]
The age of onset depends on the specific PME but PME can affect people of all ages. In Unverricht-Lundborg disease (ULD) the age of onset is between 6–15 years, while in Adult Neuronal ceroid lipofuscinoses (Adult NCL) the age of onset can be as late as 30.[2]
Symptoms often include action or stimuli induced myoclonus, seizures, neuropathy, cognitive decline, and spike and wave or no cerebral discharges.[4] The prognosis of those diagnosed with PME is poor. The person often becomes reliant on a wheelchair, enters a vegetative state due to myoclonus, and has a shortened life expectancy.[4][3]
^Berg AT, Berkovic SF, Brodie MJ, et al. (April 2010). "Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009". Epilepsia. 51 (4): 676–85. doi:10.1111/j.1528-1167.2010.02522.x. PMID 20196795.
^ abcdShahwan, Amre; Farrell, Michael; Delanty, Norman (April 2005). "Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects". The Lancet Neurology. 4 (4): 239–248. doi:10.1016/s1474-4422(05)70043-0. ISSN 1474-4422. PMID 15778103. S2CID 2304164.
^ abcHolmes, Gregory L. (April 1, 2020). "Drug Treatment of Progressive Myoclonic Epilepsy". Paediatr Drugs. 22 (2): 149–164. doi:10.1007/s40272-019-00378-y. PMC 7901803. PMID 31939107 – via HHS Public Access.
^ abMalek, Naveed; Stewart, William; Greene, John (February 26, 2015). "The progressive myoclonic epilepsies". Pract Neurol. 15 (3): 164–171. doi:10.1136/practneurol-2014-000994. PMID 25720773. S2CID 43002773 – via BMJ.
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