Due to research and advances in antiepileptic medication, individuals with ULD can live up to 60 years of age. Nevertheless, severe myoclonus can lead to injury by falling and becoming reliant on a wheelchair. Research
Because PME is so rare it is hard to do studies specifically double blind studies used to test different antiepileptic drugs. The wide range of symptoms including the differing EEG makes studying the effects of the AEDs difficult. In ULD, oligonucleotide therapeutic strategies have been used to replace gene effects while in Sialidosis enzyme replacement therapy has been studied in mouse models. In Laforas disease metformin has been approved for treatment by the European commission. In MERRF bacterial proteins have been identified in treatment in mitochondrial diseases but further studies are needed. History
The first instance where myoclonus and its relationship to epilepsy was in 1822 by Prichard. Lundborg was the first to name progressive myoclonus epilepsy in 1903 due to his study of several Swedish families as well as research done by Heinrich Unverricht in 1891. However, ULD was not recognized as a disease until a century later due to the rarity of the disease. In 1911, Lafora identified Lafora bodies but believed to be part of ULD. Laforas genetics was not described until 1995. Specific disorders
Several conditions can cause progressive myoclonic epilepsy.
The symptoms are progressive, and individuals with MEAK often need to use a wheelchair by their late teenage years because of movement difficulties and myoclonus. Many individuals with MEAK report temporary improvement of symptoms when they have a high fever. Seizures may become less frequent in adulthood, but other neurological complications, including myoclonus, ataxia and tremor, may worsen. Myoclonic epilepsy and ataxia due to potassium (K+) channel mutation (MEAK) is caused by a specific pathogenic variant ("mutation") in KCNC1 (c. 959G>A; p.Arg320His). KCNC1-related developmental and epileptic encephalopathy is associated with other pathogenic variants in KCNC1. In most individuals with KCNC1-related disorders, the pathogenic KCNC1 variant occurred spontaneously (de novo) and was not inherited from either parent. Epidemiology
PME accounts for less than 1% of epilepsy cases at specialist centres. The incidence and prevalence of PME is unknown, but there are considerable geography and ethnic variations amongst the specific genetic disorders. One cause, Unverricht Lundborg Disease, has an incidence of at least 1:20,000 in Finland. See also
Juvenile myoclonic epilepsy
Spinal muscular atrophy with progressive myoclonic epilepsy

References
External links

GeneReview/NCBI/NIH/UW entry on Progressive Myoclonus Epilepsy with Ataxia