Muscle disorders

 The skeletal muscles are controlled by the central nervous system. The nerves transfer their signals to the muscles through a unique synapse, the neuromuscular junction. The research targets the cause, course and treatment of a number of congenital and acquired muscle and neurodegenerative diseases that impair normal movement.

Neurological motor disorders

Principal investigators: Prof.dr R.A.C. Roos, Prof.dr J.J. van Hilten, Prof.dr J. Verschuuren, Dr J. Plomp | Neurology

This programme is a collaborative effort of our clinical team supported by basic science research groups focusing on chronic conditions of the motor system from muscle to cortex: Duchenne and Becker muscular dystrophy, myasthenia gravis and Lambert-Eaton myasthenic syndrome, inclusion body myositis, Parkinson, Huntington and CRPS. The focus for all these disorders is to elucidate the pathophysiology and to study the efficacy of new drugs or modification of existing treatment strategies in order to improve the course of disease. Detailed clinical profiling, study of the natural history, web-based patient databases, and new outcome measures are all used to develop new treatments for these NMDs.

Read more: Neurological motor disorders

Muscular dystrophies

Principal investigators: Prof.dr S.M. van der Maarel, Dr A.M. Aartsma-Rus, Dr V. Raz | Human Genetics

Muscular dystrophies comprise a heterogeneous group of inherited degenerative muscle disorders, characterized by progressive muscle wasting and weakness with variable distribution and severity. Our department focuses on the understanding of the common- and distinct pathophysiological mechanisms underlying this heterogeneous group of genetic diseases as well as exploring new avenues for therapy. Our emphasis is on Duchenne Muscular dystrophy (DMD), Facioscapulohumeral muscular dystrophy (FSHD), some of the Limb Girdle muscular dystrophies (LGMDs) and Oculopharyngeal muscular dystrophy (OPMD).