My program, which has been running since 2011, aims to continue optimizing the follow-up of people with neuromuscular disorders (MNM) and preparing for therapeutic trials in international initiatives. CHOIS-MNM is interested in the MNM that have the highest prevalence in the world in Quebec: myotonic dystrophy (DM1), recessive spastic ataxia of Charlevoix-Saguenay (ARSCS) and oculopharyngeal muscular dystrophy (OPDM). The follow-up of people with these MNM by the medical and rehabilitation teams must be based on a detailed portrait to be able to offer appropriate services, with a prognostic approach to anticipate future losses . Currently, there is only a total of 137 articles on ARSCS available to practitioners and patients with less than 25 articles that addresses clinical aspects .
My program will follow the largest cohort of people over the longest period of time to document the impairments, disabilities and participation restrictions. For therapeutic trials, a systematic process for selecting the right tools and documenting their ability to measure impairments adequately and reproducibly will be done. Finally, my program will inform families in regard to their participation in research by developing a training program in an interactive waiting room context.