This thesis of Sterre van der Veen 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.
