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

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. 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. 2023. PMID:38133849

Côté, C, Brais, B, Sèbiyo Batcho, C, Brisson, JD, Youssof, S, Allegue, DR et al.. Introducing the Dysphagiameter: a novel patient-reported outcome measure for evaluating dysphagia in oculopharyngeal muscular dystrophy - from conceptual framework to initial development. Neuromuscul Disord. 2023.33 (11)856-865 PMID:37923656

Brisson, JD, Brais, B, Mathieu, J, Lessard, I, Gagné-Ouellet, V, Côté, I et al.. Characterization of muscle strength and mobility in oculopharyngeal muscular dystrophy. Muscle Nerve. 2023.68 (6)841-849 PMID:37849345

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. 2024.23 (2)512-522 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. 2024.23 (2)489-501 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

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