Karlien Mul The many faces of facioscapulohumeral muscular dystrophy: opportunities and challenges on the road to therapies
Facioscapulohumeral muscular dystrophy (FSHD) is an inherited progressive muscle disease that is uncurable.read more
Karlien Mul The many faces of facioscapulohumeral muscular dystrophy: opportunities and challenges on the road to therapiesFacioscapulohumeral muscular dystrophy (FSHD) is an inherited progressive muscle disease that is uncurable. Although the knowledge on the disease mechanism has increased over the past years, we still cannot adequately explain the variation in the severity of symptoms between patients. This thesis focuses on how much of the variation can be explained by differences in the DNA and by exposure to female reproductive hormones.
A better understanding of the disease mechanism can provide new targets for therapy development. Once new therapies have been developed, their efficacy will have to be tested in clinical trials. For the optimal design and conduct of clinical trials, proper measurement instruments need to be developed. This thesis shows that muscle MRI and ultrasound are potentially useful measurement instruments. For proper development of other instruments, such as electrical impedance myography and questionnaires, more research is required.
PhD thesis: The many faces of facioscapulohumeral muscular dystrophy: opportunities and challenges on the road to therapies
Date, time and location PhD defense
- Date: 18 January 2019
- Time: 12.30 hrs
- Location: Radboud Universiteit, Academiezaal Aula, Comeniuslaan 2
Karlien Mul (1989) studied Medicine at the Radboud University and obtained her medical degree in 2014. The research in this thesis was performed at the department of Neurology of the Radboud university medical center and in part at the neuromuscular center of the Kansas University Medical Center, Kansas City, USA. She currently works as a neurology resident and post-doctoral researcher at the department of Neurology of the Radboudumc.
- Promotors: Prof. B.G.M. van Engelen and Prof. S.M. van der Maarel
- Co-promotors: G.C. Horlings PhD and N.C. Voermans PhD