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.

The following LCTN programmes participate:

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 disordersNeurology Research

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).

Read more: Muscular dystrophies

Musculoskeletal imaging

Principal investigators: Prof.dr J.L. Bloem, Dr M. Reijnierse, Dr F. Van Leeuwen | Radiology

In musculoskeletal tumors, inflammatory and degenerative disorders of the musculoskeletal system we use functional imaging techniques (MR, US, PET, SPECT, optical) to visualize, quantify and analyze tissue architecture (cell density, extracellular space, cell membrane integrity), angiogenesis (vessel density, permeability, perfusion, flow), metabolic volume (glucose metabolism, perfusion), oxygenation, cell trafficking, and apoptosis. Our aim is to unravel pathophysiology, monitor effectiveness of therapy, increase cost-effectiveness of imaging, and develope new technical approaches in data acquisition and post processing.

Read more: Musculoskeletal imaging