Cynthia Gagnon

Visiting Professor, uOttawa and CHEO-RI

Professor, Sherbrooke University Faculty of Medicine and Health Sciences

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Cynthia is a senior career-award researcher specializing in adult genetic neuromuscular disorders. She holds a professorial appointment at the School of Rehabilitation at the University of Sherbrooke. She is the scientific director of the Groupe de recherche interdisciplinaire sur les maladies neuromusculaires (GRIMN) and is a researcher at the Centre de recherche Charles-Le Moyne-Saguenay-Lac-St-Jean sur les innovations en santé.
Cynthia trained as an occupational therapist at McGill University. She has a doctoral degree in experimental medicine from Laval University and pursued a postdoctoral fellowship in program evaluation at Montreal University.

Her work aims at improving clinical care and speeding up trial readiness in the most prevalent neuromuscular diseases in Canada. Her main interest is to document the natural history of the disease through an interdisciplinary perspective to be able to document the progression of the disease and to identify significant predictor and explanatory factors related to participation in daily activities and social roles of patients such as work and autonomous living. Her other interest is to define the best outcome measures to assess potential therapeutic targets such as muscle strength, fatigue or cognitive functions. She also works on developing knowledge translation strategies related to rare diseases to insure effective and just-in-time knowledge translation to the interdisciplinary team through different strategies including wiki, articles, clinical practice guidelines to improve clinical care for patients and their families.

She is involved in several international projects focusing on myotonic dystrophy type 1 (DM1), oculopharyngeal muscular dystrophy (OPMD) and autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).

Cynthia is a visiting professor at the University of Ottawa and CHEO Research Institute for 2020 and works with the Lochmüller Lab team on areas of shared interest including patient registries, natural history studies and biobanking, as well as the newly funded NMD4C neuromuscular disease network for Canada, where she leads the knowledge translation work. She will also bring her extensive myotonic dystrophy patient cohorts into the work underway to identify potential biomarkers in myotonic dystrophy type 1.


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Recent publications

Conte, TC, Duran-Bishop, G, Orfi, Z, Mokhtari, I, Deprez, A, Côté, I et al.. Clearance of defective muscle stem cells by senolytics restores myogenesis in myotonic dystrophy type 1. Nat Commun. 2023.14 (1)4033 PMID:37468473

Traschütz, A, Adarmes-Gómez, AD, Anheim, M, Baets, J, Brais, B, Gagnon, C et al.. Responsiveness of the Scale for the Assessment and Rating of Ataxia and Natural History in 884 Recessive and Early Onset Ataxia Patients. Ann Neurol. 2023.94 (3)470-485 PMID:37243847

Fortin, J, Côté, I, Gagnon, C, Gallais, B. Do classical and computerized cognitive tests have equal intrarater reliability in myotonic dystrophy type 1?. Neuromuscul Disord. 2023.33 (6)490-497 PMID:37209494

Tremblay, M, Brais, B, Asselin, V, Buffet, M, Girard, A, Girard, D et al.. The Development of a New Patient-Reported Outcome Measure in Recessive Ataxias: The Person-Reported Ataxia Impact Scale. Cerebellum. 2023. PMID:37165279

Lessard, I, Côté, I, St-Gelais, R, Hébert, LJ, Brais, B, Mathieu, J et al.. Natural History of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay: a 4-Year Longitudinal Study. Cerebellum. 2023. PMID:37101017

Kanzler, CM, Lessard, I, Gassert, R, Brais, B, Gagnon, C, Lambercy, O et al.. Digital health metrics reveal upper limb impairment profiles in ARSACS. J Neurol Sci. 2023.448 120621 PMID:37004405

Laberge, L, Maltais, A, Auclair, J, Mathieu, J, Gagnon, C. Evolution of Sleep Complaints in Myotonic Dystrophy Type 1: A 9-Year Longitudinal Study. Can J Neurol Sci. 2023. 1-3 PMID:36927489

Nguyen, CDL, Jimenez-Moreno, AC, Merker, M, Bowers, CJ, Nikolenko, N, Hentschel, A et al.. Periostin as a blood biomarker of muscle cell fibrosis, cardiomyopathy and disease severity in myotonic dystrophy type 1. J Neurol. 2023.270 (6)3138-3158 PMID:36892629

Lessard, I, Masterman, V, Côté, I, Gagnon, C, Duchesne, E. A rehabilitation program to increase balance and mobility in ataxia of Charlevoix-Saguenay: An exploratory study. PLoS One. 2022.17 (12)e0279406 PMID:36576926

Fisette-Paulhus, I, Gagnon, C, Morin, M. Prevalence of urinary incontinence and other pelvic floor disorders in women with myotonic dystrophy type 1. Neuromuscul Disord. 2023.33 (1)32-39 PMID:36543698

Raymond, K, Gagnon, C, Levasseur, M. Multiple Case Study of Changes in Participation of Adults with Myotonic Dystrophy Type 1: Importance of Redesigning Accomplishment and Resilience. J Neuromuscul Dis. 2022.9 (6)731-755 PMID:36214003

Bourcier, D, Bélair, N, Pedneault-Tremblay, ÉA, Lessard, I, Klockgether, T, Synofzik, M et al.. French Translation and Cross-cultural Adaptation of the Scale for the Assessment and Rating of Ataxia. Cerebellum. 2022. PMID:36208403

Tremblay, M, Girard-Côté, L, Brais, B, Gagnon, C. Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix-Saguenay to develop patient-reported outcome. Orphanet J Rare Dis. 2022.17 (1)369 PMID:36183078

Beauchesne, W, Ouellet-Dupuis, F, Frigon, MA, Savard, C, Gagné-Ouellet, V, Gagnon, C et al.. Cannabis use in patients with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. J Clin Neurosci. 2022.103 44-48 PMID:35809457

Muslemani, S, Lessard, I, Lavoie, C, Côté, I, Brais, B, Mathieu, J et al.. Participation and Functional Independence in Adults With Recessive Spastic Ataxia of Charlevoix-Saguenay. Can J Occup Ther. 2022.89 (3)315-325 PMID:35469466

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