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 ensure 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 in relation to myotonic dystrophy type 1 (DM1), oculopharyngeal muscular dystrophy (OPMD) and autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).
Within NMD4C, Cynthia is lead for knowledge translation.
Gagnon, C, Gallais, B. Understanding factors hampering activities of daily living performance in childhood-onset myotonic dystrophy phenotypes. Dev Med Child Neurol. 2019. PMID:31840805
Laberge, L, Gallais, B, Auclair, J, Dauvilliers, Y, Mathieu, J, Gagnon, C et al.. Predicting daytime sleepiness and fatigue: a 9-year prospective study in myotonic dystrophy type 1. J. Neurol. 2020.267 (2)461-468 PMID:31673761
Gagnon, C, Brais, B, Lessard, I, Lavoie, C, Côté, I, Mathieu, J et al.. Development and validation of a disease severity index for ataxia of Charlevoix-Saguenay. Neurology. 2019.93 (16)e1543-e1549 PMID:31534027
Roussel, MP, Morin, M, Girardin, M, Fortin, AM, Leone, M, Mathieu, J et al.. Training program-induced skeletal muscle adaptations in two men with myotonic dystrophy type 1. BMC Res Notes. 2019.12 (1)526 PMID:31429798
Légaré, C, Overend, G, Guay, SP, Monckton, DG, Mathieu, J, Gagnon, C et al..DMPK gene DNA methylation levels are associated with muscular and respiratory profiles in DM1. Neurol Genet. 2019.5 (3)e338 PMID:31334355
Overend, G, Légaré, C, Mathieu, J, Bouchard, L, Gagnon, C, Monckton, DG et al.. Allele length of the DMPK CTG repeat is a predictor of progressive myotonic dystrophy type 1 phenotypes. Hum. Mol. Genet. 2019.28 (13)2245-2254 PMID:31220271
De Antonio, M, Dogan, C, Daidj, F, Eymard, B, Puymirat, J, Mathieu, J et al.. The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care. Orphanet J Rare Dis. 2019.14 (1)122 PMID:31159885
Roussel, MP, Morin, M, Gagnon, C, Duchesne, E. Correction to: What is known about the effects of exercise or training to reduce skeletal muscle impairments of patients with myotonic dystrophy type 1? A scoping review. BMC Musculoskelet Disord. 2019.20 (1)244 PMID:31122216
Briand, MM, Rodrigue, X, Lessard, I, Mathieu, J, Brais, B, Côté, I et al.. Expanding the clinical description of autosomal recessive spastic ataxia of Charlevoix-Saguenay. J. Neurol. Sci. 2019.400 39-41 PMID:30901567
Roussel, MP, Morin, M, Gagnon, C, Duchesne, E. What is known about the effects of exercise or training to reduce skeletal muscle impairments of patients with myotonic dystrophy type 1? A scoping review. BMC Musculoskelet Disord. 2019.20 (1)101 PMID:30836978
Raymond, K, Levasseur, M, Mathieu, J, Gagnon, C. Progressive Decline in Daily and Social Activities: A 9-year Longitudinal Study of Participation in Myotonic Dystrophy Type 1. Arch Phys Med Rehabil. 2019.100 (9)1629-1639 PMID:30831092
Ashizawa, T, Gagnon, C, Groh, WJ, Gutmann, L, Johnson, NE, Meola, G et al.. Consensus-based care recommendations for adults with myotonic dystrophy type 1. Neurol Clin Pract. 2018.8 (6)507-520 PMID:30588381
Côté, C, Gagnon, C, Youssof, S, sKurtz, N, Brais, B. The requirement for a disease-specific patient-reported outcome measure of dysphagia in oculopharyngeal muscular dystrophy. Muscle Nerve. 2019.59 (4)445-450 PMID:30575974
Côté, C, Germain, I, Dufresne, T, Gagnon, C. Comparison of two methods to categorize thickened liquids for dysphagia management in a clinical care setting context: The Bostwick consistometer and the IDDSI Flow Test. Are we talking about the same concept?. J Texture Stud. 2019.50 (2)95-103 PMID:30370530