Genetic myoclonus


    125 Downloads (Pure)


    Myoclonus are brief, involuntary jerks that can occur continuously in the whole body. The jerks are caused by overactive nerves and have many different causes. There are many different genetic conditions that are associated with myoclonus; each form is very rare and often incurable. This thesis provides an overview of all genetic forms of myoclonus, with the overarching goal of improving recognition and diagnosis by physicians. Genetic myoclonus is often a complex clinical phenotype with multiple accompanying symptoms (e.g., epilepsy, coordination disorder), ultimately resulting in a disabling movement disorder. By combining several disciplines, this thesis provides a broad perspective on this rare patient group. We have collected a large group of patients with genetic myoclonus and described their natural course over time. First steps have been taken to find an explanation as to why some patients are more severely affected and develop accompanying epilepsy while others do not. We found that it is very useful to analyze myoclonus with electrodes that measure muscle activity (i.e., electromyography) to identify the anatomical location of the overactive nerves. Furthermore, ‘negative’ jerks can be identified, causing sudden loss of muscle activity associated with frequent falls and wheelchair-dependency. In summary, this thesis provides insight on the various causes and disease course of genetic myoclonus enabling physicians to improve care for this rare patient group.
    Originele taal-2English
    KwalificatieDoctor of Philosophy
    Toekennende instantie
    • Rijksuniversiteit Groningen
    • de Koning-Tijssen, Marina, Supervisor
    • de Koning, Tom, Supervisor
    Datum van toekenning24-mei-2024
    Plaats van publicatie[Groningen]
    StatusPublished - 2024


    Duik in de onderzoeksthema's van 'Genetic myoclonus'. Samen vormen ze een unieke vingerafdruk.

    Citeer dit