The NMD team of the LUMC in collaboration with Jos Hendriksen (behavioral sciences, Kempenhaeghe) has received a grant from the Duchenne Parent Project to perform the study ‘Brain imaging and cognition in boys with Duchenne muscular dystrophy’.
About one third of boys with DMD shows cognitive impairment. This may be caused by the lack of dystrophin, but the mechanism remains to be clarified.
Following successful restoration of in vivo dystrophin expression in human skeletal muscle, therapeutic trials with exon skipping are being planned. Whether treatments that improve muscle strength will be effective in brain is unknown. An imaging parameter that correlates with cognitive functioning would be very helpful.
In this study, MRI scans will be made of boys (age 8 or older) and men with DMD as well as healthy controls. The MRI results will be correlated to the results of neuropsychological examination.
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