Donders Institute for Brain, Cognition and Behaviour
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Thesis defense Rianne Goselink (Donders series 425)

2 April 2020

Promotor: prof. dr. B. van Engelen
Co-promotors: dr. C. Erasmus, dr. N. Voermans

Growing up with FSHD. Characteristics of early-onset FSHD and childhood FSHD

Can you imagine not being able to laugh? Weakness of the facial muscles is one of the most bothersome features of FSHD (facioscapulohumeral dystrophy). FSHD is primarily known in adults but can also affect children. In this research, we have tracked almost all children with FSHD in the Netherlands, which provided us a unique opportunity to study the disease.

We found that FSHD is three times more frequent in children than previously thought and that children have a highly variable disease severity. The most frequent symptoms in children with FSHD are: facial weakness, pain, fatigue and a decreased endurance. We also found that the younger the disease manifests, the more severe the disease will be. Some children had very mild symptoms, which is reassuring for other children and parents. With this research we expect to improve the care for children with FSHD.