AI Article Synopsis
- Progressive Myoclonus Epilepsy (PME) is a rare epilepsy syndrome that leads to worsening symptoms like myoclonus, ataxia, and seizures over time.
- Approximately 80% of PME cases can now be genetically diagnosed, with nearly fifty identified genetic causes, though some are very rare.
- The review discusses common clinical features and genetic backgrounds of PMEs, along with a case study to illustrate clinical investigations and treatment options for this challenging condition.
Article Abstract
Progressive Myoclonus Epilepsy (PME) is a rare epilepsy syndrome characterized by the development of progressively worsening myoclonus, ataxia, and seizures. A molecular diagnosis can now be established in approximately 80% of individuals with PME. Almost fifty genetic causes of PME have now been established, although some remain extremely rare. Herein, we provide a review of clinical phenotypes and genotypes of the more commonly encountered PMEs. Using an illustrative case example, we describe appropriate clinical investigation and therapeutic strategies to guide the management of this often relentlessly progressive and devastating epilepsy syndrome. This manuscript in the Genetic Literacy series maps to Learning Objective 1.2 of the ILAE Curriculum for Epileptology (Epileptic Disord. 2019;21:129).
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10947580 | PMC |
| http://dx.doi.org/10.1002/epd2.20152 | DOI Listing |
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