FSHD University webinar (September 15, 2022) by Mark Tarnopolsky, MD PhD, Professor of Pediatrics and Medicine and Director of Neuromuscular and Neurometabolic Clinic at McMaster University Medical Center in Hamilton, Ontario, Canada. Dr. Tarnopolsky is also CEO and CSO of Exerkine Corporation. He sees a large number of FSHD patients in his clinic and has observed that exercise provides significant benefits to them. Research in Dr. Tarnopolsky’s lab investigates the role of exercise and antioxidants as potential therapeutic interventions for FSHD.

Dr. Tarnopolsky explains, “FSHD is a genetic disorder that results from the toxic overexpression of the DUX4 gene, leading to skeletal muscle atrophy and weakness. The final common pathways of cellular dysfunction in this disorder are similar to other muscle diseases (i.e., myotonic MD, mitochondrial disease and sporadic inclusion body myopathy) and human aging associated muscle weakness (sarcopenia) and include; muscle stem cell dysfunction, mitochondrial dysfunction, oxidative stress and a reduction in muscle protein synthesis. We and others have shown the longterm clinical benefit from exercise in DM1, aging and mitochondrial disease and will present encouraging data on the longterm benefit of exercise in FSHD. Furthermore, appropriately targeted multiingredient dietary approaches represent a form of “nutrapharmaceutical” therapy and we have shown significant benefits in aging, obesity and mitochondrial disease. I will discuss the clinical support for optimal dietary nutrient intake and the potential for a multiingredient nutrapharmaceutical to target the primary and secondary cellular consequences of FSHD that can be an immediately applied therapy and an adjunct to any future genetic or small molecule approaches.”

For more information visit fshdsociety.org