As a neuromuscular neurologist at Radboudumc, my role encompasses three primary responsibilities: patient care, research, and education/training. These activities naturally intersect, particularly in the domain of rare hereditary neuromuscular disorders. Currently, my team manages approximately 1,300 new neuromuscular referrals annually, along with 2,000 follow-up visits. This includes a broad spectrum of neuromuscular conditions and symptoms (general referrals) as well as hereditary and acquired myopathies, exercise-induced myalgia, and rhabdomyolysis (second opinions). We collaborate closely with diagnostic departments such as genetics, pathology, radiology, and clinical neurophysiology, as well as the rehabilitation department. We also host annual meetings for referring specialists.

In my clinical practice, I evaluate referrals from across the Netherlands at the neuromuscular clinic. My primary research focuses on genotype-phenotype correlations and trial readiness for rare hereditary myopathies, particularly congenital myopathies. Phenotypic variation caused by the same genetic mutation is likely influenced by epigenetic and environmental factors, which are potential targets for future medical treatments and lifestyle interventions. With training as a clinical neurologist specializing in neuromyology and experience in translational research, I am well-positioned to bridge the gap between bench and bedside in neuromuscular care. My passion for supporting patients with rare genetic disorders and enthusiasm for interdisciplinary collaboration drives my work in this field.

These core research themes underpin my main areas of study:

1. Congenital Myopathies: This is my principal research focus, which I began after completing my PhD. It explores the spectrum of congenital myopathies from childhood to late adulthood, with manifestations ranging from muscle weakness to exercise-induced rhabdomyolysis.

2. Facioscapulohumeral Muscular Dystrophy (FSHD): I am part of the FSHD research group established in the 1990s by Prof. Padberg and further developed by Prof. van Engelen, contributing to advancements in this field.