The Dutch Myotonic Dystrophy Centre, consisting of the Maastricht UMC+ and the Radboud UMC Nijmegen, has built a national registry for patients with myotonic dystrophy. The registry is supported by a grant from the Prinses Beatrix Spierfonds. The national registry aims to enable a long-term follow-up study on the natural course as well as the development and selection of sensitive outcome measures to be used in future therapeutic trials.
The registry will include demographic data, age, gender, diagnosis, genetic confirmation, age at onset, type of DM1 (late onset/adult/childhood/congenital), education, medical history, medication, neuromuscular, cardiac and pulmonary status, gastrointestinal complaints, cataract, fatigue, sleepiness, cognition and behaviour, and activity and participation restrictions. The registry will include 600-800 patients (adults and children).