Grant: Operating Grant - Priority Announcement: Neuromuscular Research

Myotonic dystrophy (DM1), an autosomal dominant disorder, is the most common adult form of muscular dystrophy. The natural history and variable patterns of motor and multisystemic progression in DM1 have not been well delineated. This multidisciplinary team want to reassess 152 DM1 patients, 9 years after baseline evaluation, using measures of muscular strength, daytime sleepiness, fatigue, respiratory and metabolic impairments, cognition and behavioral impairments, functional status, social participation and quality of life. The project will improve the understanding of the natural history of DM1, highlight major determinants of social participation, well-being and quality of life for affected patients and their families and promote the emergence of comprehensive disease management strategies. The project will also generate estimations of annual change of several impairments in DM1 that will be valuable for the design of therapeutic trials in DM1.