Sterre van der Veen
In November 2018, I have started my PhD research, which I will alternate with my internships regarding the Master of Medicine at the University of Groningen. The aim of my research is to bring the syndrome of Progressive Myoclonus Ataxia (PMA) under the attention of physicians and improve the diagnostic process of this syndrome. Patients diagnosed with PMA experience both involuntary muscle contractions (myoclonus) and coordination problems (ataxia), sometimes in combination with epilepsy, of which the severity of the symptoms increases during their lifetime. Physicians find it hard to recognize this syndrome and as a result, patients have to wait many years before the diagnosis of PMA is made. Often this syndrome is caused by a defect in a patients genetic material (DNA), but in many patients no underlying etiology can be found. Hopefully, with my research I can help physicians recognize this syndrome in an earlier stage and help discover more etiologies causing this devastating syndrome.
Furthermore, I contribute to the NEMO-project, the Next Move in Movement Disorders. In this project, we will learn a computer algorithm to differentiate movement disorders using 3D video cameras, electromyography and movement sensors.