Abstract is: Progressive Myoclonic Epilepsies (PME) are a rare group of inherited neurodegenerative diseases characterized by myoclonus, resistance to treatment, and neurological deterioration. The cause of PME depends largely on the type of PME. Most PMEs are caused by autosomal dominant or recessive and mitochondrial mutations. 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. 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). 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. Symptoms often include action or stimuli induced myoclonus, seizures, neuropathy, cognitive decline, and spike and wave or no cerebral discharges. 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.
| class of disease | Q112193867 |
| rare disease | Q929833 |
| myoclonic epilepsy | Q11883686 |
| variable age at onset electroclinical syndrome | Q18553416 |
| progressive epilepsy and/or ataxia with myoclonus as a major feature | Q55787255 |
| P2581 | BabelNet ID | 00414664n |
| 00414664n | ||
| P699 | Disease Ontology ID | DOID:891 |
| P2888 | exact match | http://identifiers.org/doid/DOID:891 |
| http://purl.obolibrary.org/obo/DOID_891 | ||
| http://www.orpha.net/ORDO/Orphanet_308 | ||
| P4317 | GARD rare disease ID | 7140 |
| P3827 | JSTOR topic ID (archived) | progressive-myoclonic-epilepsies |
| P665 | KEGG ID | H00810 |
| P486 | MeSH descriptor ID | D020191 |
| P672 | MeSH tree code | C10.228.140.490.493.063.650 |
| C10.228.140.490.375.130.650 | ||
| P6366 | Microsoft Academic ID | 2781467325 |
| 2910065978 | ||
| P5270 | Mondo ID | MONDO_0010682 |
| P1748 | NCI Thesaurus ID | C7636 |
| P691 | NL CR AUT ID | ph1141542 |
| P492 | OMIM ID | 254900 |
| 254900 | ||
| 310370 | ||
| 310370 | ||
| 611726 | ||
| 611726 | ||
| 614018 | ||
| 614018 | ||
| 612437 | ||
| 612437 | ||
| P10283 | OpenAlex ID | C2781467325 |
| P1550 | Orphanet ID | 98261 |
| P2892 | UMLS CUI | C0751778 |
| P11143 | WikiProjectMed ID | Progressive myoclonus epilepsy |
| P2293 | genetic association | SCARB2 | Q17859497 |
| KCNC1 | Q18028138 | ||
| GOSR2 | Q18034389 | ||
| PRICKLE1 | Q18051107 | ||
| KCTD7 | Q18052295 | ||
| P1995 | health specialty | neurology | Q83042 |
| P5008 | on focus list of Wikimedia project | WikiProject Medicine | Q4099686 |
| Q163905 | Lafora disease |
| Q6798174 | May–White syndrome |
| Q63253182 | North Sea progressive myoclonus epilepsy |
| Q112659468 | PRICKLE1-related progressive myoclonus epilepsy with ataxia |
| Q2356131 | Unverricht-Lundborg syndrome |
| Q55781257 | myoclonic epilepsy, Hartung type |
| Q55784865 | progressive myoclonic epilepsy type 7 |
| Q56014093 | progressive myoclonic epilepsy with dystonia |
| Q102293611 | progressive myoclonus epilepsy 10 |
| Q102297022 | progressive myoclonus epilepsy 3 |
| Q102294151 | progressive myoclonus epilepsy 4 |
| Q102297003 | progressive myoclonus epilepsy 6 |
| Q102296251 | progressive myoclonus epilepsy 7 |
| Q102293294 | progressive myoclonus epilepsy 8 |
| Q102293326 | progressive myoclonus epilepsy 9 |
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| Arabic (ar / Q13955) | صرع رمعي عضلي تقدمي | wikipedia |
| Progressive Myoklonusepilepsie | wikipedia | |
| Progressive myoclonus epilepsy | wikipedia | |
| אפילפסיה מיוקלונית מתקדמת | wikipedia | |
| Epilessia mioclonica progressiva | wikipedia |
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