Cynthia Gagnon
Visiting Professor, uOttawa and CHEO-RI
Professor, Sherbrooke University Faculty of Medicine and Health Sciences
Email CynthiaCynthia 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
Lessard, I, Duchesne, E, Hébert, LJ, Brais, B, Rodrigue, X, Routhier, F et al.. Selection of Clinical Outcome Assessments for Trial Readiness in ARSACS - 2-year Progression and Responsiveness to Change Part 2: Mobility, Balance, and Lower Limb Coordination. Cerebellum. 2025.24 (4)95 PMID:40332679
Lessard, I, Gagnon, C, Tremblay, M, Girard-Côté, L, Côté, I, Aubertin-Leheudre, M et al.. A Tailored Home-Based Training Program Improved Ataxia Severity and Participation in Adults With ARSACS. Cerebellum. 2025.24 (3)63 PMID:40095137
Mahdavi, M, Kim, TY, Prévost, K, Balthazar, P, Gagné-Ouellet, V, Hus, IF et al.. Influence of CTG repeats from the human DM1 locus on murine gut microbiota. Comput Struct Biotechnol J. 2025.27 733-743 PMID:40092662
Côté, C, Brais, B, Batcho, CS, Brisson, JD, Youssof, S, Sogbossi, ES et al.. Measurement Properties of the Dysphagiameter for the Assessment of Dysphagia in Oculopharyngeal Muscular Dystrophy. Dysphagia. 2024. PMID:39708080
Beichert, L, Seemann, J, Kessler, C, Traschütz, A, Müller, D, Dillmann-Jehn, K et al.. Patient-Relevant Digital-Motor Outcomes for Clinical Trials in Hereditary Spastic Paraplegia Type 7: A Multicenter PROSPAX Study. Neurology. 2024.103 (12)e209887 PMID:39621946
Villeneuve-Rhéaume, A, Gagnon, C, Germain, I, Côté, C. Difference in Drinking Times as a Function of Liquid Consistency in Adults With Oculopharyngeal Muscular Dystrophy: A Comparative Study Using Bostwick Consistometer and IDDSI Flow Test Methods. J Texture Stud. 2024.55 (6)e12872 PMID:39511704
Muslemani, S, Brisson, JD, Côté, I, Lessard, I, Côté, C, Brais, B et al.. Social Participation Restrictions and Explanatory Factors in Adults with Oculopharyngeal Muscular Dystrophy. Can J Occup Ther. 2025.92 (1)29-38 PMID:39285696
Roussel, MP, Ravel-Chapuis, A, Gobin, J, Jasmin, BJ, Leduc-Gaudet, JP, Gagnon, C et al.. Changes in Physiopathological Markers in Myotonic Dystrophy Type 1 Skeletal Muscle: A 3-Year Follow-up Study. J Neuromuscul Dis. 2024.11 (5)981-995 PMID:39031377
Beichert, L, Ilg, W, Kessler, C, Traschütz, A, Reich, S, Santorelli, FM et al.. Digital Gait Outcomes for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Discriminative, Convergent, and Ecological Validity in a Multicenter Study (PROSPAX). Mov Disord. 2024.39 (9)1544-1555 PMID:38847438
Girard-Côté, L, Gallais, B, Gagnon, C, Roussel, MP, Morin, M, Hébert, LJ et al.. Resistance training in women with myotonic dystrophy type 1: a multisystemic therapeutic avenue. Neuromuscul Disord. 2024.40 38-51 PMID:38824906
Mahdavi, M, Prévost, K, Balthazar, P, Hus, IF, Duchesne, É, Dumont, N et al.. Disturbance of the human gut microbiota in patients with Myotonic Dystrophy type 1. Comput Struct Biotechnol J. 2024.23 2097-2108 PMID:38803516
Hendrickx, N, Mentré, F, Traschütz, A, Gagnon, C, Schüle, R, ARCA Study Group et al.. Correction: Prediction of Individual Disease Progression Including Parameter Uncertainty in Rare Neurodegenerative Diseases: The Example of Autosomal-Recessive Spastic Ataxia Charlevoix Saguenay (ARSACS). AAPS J. 2024.26 (4)62 PMID:38789847
Hendrickx, N, Mentré, F, Traschütz, A, Gagnon, C, Schüle, R, ARCA Study Group et al.. Prediction of Individual Disease Progression Including Parameter Uncertainty in Rare Neurodegenerative Diseases: The Example of Autosomal-Recessive Spastic Ataxia Charlevoix Saguenay (ARSACS). AAPS J. 2024.26 (3)57 PMID:38689016
Voet, N, Pater, R, Garmendia, J, Sistiaga, A, Labayru, G, Gallais, B et al.. Patient-Reported Outcome Measures in Neuromuscular Diseases: A Scoping Review. J Neuromuscul Dis. 2024.11 (3)567-577 PMID:38517800
Lessard, I, Hébert, LJ, St-Gelais, R, Côté, I, Mathieu, J, Brais, B et al.. Toward a Better Understanding of Walking Speed in Ataxia of Charlevoix-Saguenay: a Factor Exploratory Study. Cerebellum. 2024.23 (4)1377-1385 PMID:38133849
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