Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances

Area of Science:

• Neurology
• Genetics
• Rare Diseases

Background:

• Progressive myoclonus epilepsies (PME) encompass a group of rare, debilitating neurological disorders characterized by myoclonus and gradually worsening seizures.
• Despite individual rarity, PMEs represent a significant proportion of complex epilepsy cases managed in specialized centers.

Purpose of the Study:

• To conduct a scoping review of English language publications from the past decade.
• To synthesize recent advances in the diagnosis, phenotyping, and therapy of all PME subtypes.
• To identify key lessons learned and promising future research directions.

Main Methods:

• Scoping review methodology.
• Systematic search of English language literature published in the last 10 years.
• Focus on diagnostic, phenotypic, and therapeutic advancements across all PMEs.

Main Results:

• Substantial progress has been made in understanding PME pathophysiology, diagnosis, and prognosis over the last decade.
• Therapeutic advances have been identified for select PME disorders.
• A comprehensive overview of diagnostic criteria, clinical features, and treatment options is presented.

Conclusions:

• The past decade has yielded significant insights into PME, improving diagnostic accuracy and therapeutic strategies.
• Continued research is crucial for addressing the remaining challenges in managing these complex progressive neurological conditions.
• Future investigations should focus on translating recent discoveries into effective clinical interventions for all PME patients.