Skip to ContentSkip to Navigation
About us Latest news Events PhD ceremonies

Bewegingsstoornissen met debuut op jonge leeftijd Innovaties in de genetica vragen om een nieuwe klinische benadering

Genetic advances require a new clinical approach
PhD ceremony:dr. M.E. van Egmond
When:July 03, 2019
Start:14:30
Supervisor:prof. dr. M.A.J. (Marina) de Koning-Tijssen
Co-supervisor:dr. T.J. de Koning
Where:Academy building RUG
Faculty:Medical Sciences / UMCG
Bewegingsstoornissen met debuut op jonge leeftijd Innovaties in de
genetica vragen om een nieuwe klinische benadering

This thesis provides new diagnostic strategies to young-onset movement disorders (YMDs) in light of the paradigm shift that has occurred in molecular genetics. The benefits of a multidisciplinary team approach to complex YMDs were described, and for dystonia and myoclonus new diagnostic algorithms were proposed, incorporating the use of new genetic techniques. With regard to dystonia, gene panel analysis proved to facilitate molecular diagnosis in complex cases of dystonia, with a quicker diagnostic workup and lower costs, representing a major improvement for patients and their families. Furthermore, the phenotypic spectrum and the effect of the modified Atkins diet was explored in North Sea Progressive Myoclonus Epilepsy, a rare disorder with young-onset myoclonus which is caused by a mutation in the GOSR2 gene. The mutation might originate from Friesland, as the prevalence of the GOSR2 mutation seems to be relatively high in this region. The findings described in this thesis are important for daily clinical practice and contribute to the discussion on how we can use our clinical expertise to let patients optimally benefit from the newest genetic techniques.