An Epidemiological Perspective on Neuromuscular Disorders: Nationwide registries in practice

This thesis focuses on the epidemiology of neuromuscular disorders (NMD), more commonly known as muscle diseases. The prevalence and incidence of these disorders is often only partly known, while this information is needed to make appropriate decisions for both individual and population-based care.
To this end, we conducted a literature review and used CRAMP1.0 (Computer Registry of All Myopathies and Polyneuropathies). By combining CRAMP1.0 with data from other sources, we provided incidence estimates for 15 NMD. We also presented age and gender-specific distributions and geographical variation for a number of NMD. We then used the FSHD registry to share information about a large group of people with FSHD, including their experiences during the covid pandemic. We thus demonstrated the usefulness and possibilities of these very different nationwide NMD registries. 
In the discussion, we assessed the applied methods and discussed shortcomings and suggestions for improvement of future registries for rare diseases.