Full professor
Department of Rehabilitation
Faculty of Medicine

In addition to being a regular researcher at the CHU de Québec-Université Laval Research Center and a tenured professor in the physiotherapy program at the School of Rehabilitation Sciences of the Faculty of Medicine at Laval University, Dr. Duchesne is also a regular researcher at the Interdisciplinary Research Center in Rehabilitation and Social Integration (CIRRIS) and the Interdisciplinary Research Group on Neuromuscular Diseases (GRIMN). Her expertise in muscle physiology acquired during graduate studies on animal models, combined with her initial training in physiotherapy, is now applied to her translational research program conducted with individuals affected by rare diseases with muscle deficiencies. Recently, her collaborative work on identifying a contributory mechanism to the severity of muscle symptoms in type 1 myotonic dystrophy (DM1) was recognized as one of the top 10 discoveries of 2023 by Québec Science Magazine.

Natural History Studies in Rare Diseases
Dr. Duchesne contributes to documenting the severity and progression of motor deficiencies in DM1, Charlevoix Saguenay recessive spastic ataxia (ARSCS), and oculopharyngeal muscular dystrophy (OPMD). She is also interested in documenting the metrological properties of certain clinical tools frequently used in the assessment of motor deficiencies in these populations. These studies are made possible by patient cohorts followed by GRIMN: 200 DM1 patients over 21 years (6 measurement times), 100 ARSCS patients over 12 years (5 measurement stages), and 120 OPMD patients over 5 years (3 measurement times).

Interventional Studies in Rare Diseases
Dr. Duchesne has conducted several interventional studies in rare diseases. These studies have shown that various rehabilitation approaches constitute promising therapeutic avenues to slow the progression of muscle deficiencies in rare diseases. An important part of Dr. Duchesne’s work concerns the study of fundamental variables associated with the measured clinical gains.

Study of Pathophysiological Mechanisms in Rare Diseases Using Human Biological Samples
Dr. Duchesne’s expertise as a clinician-scientist also allows her to study the pathophysiological mechanisms related to the severity and/or progression of certain rare diseases. These studies are made possible by the establishment of the Biobank of Neuromuscular Diseases and Other Related Diseases and Conditions (BDMB-MNM-MCA), for which she is a trustee. This biobank contains detailed phenotypic data and biological material (including muscle biopsies [N=150]) collected from the populations she studies.