P.5.6 Aerobic training in patients with myopathy and hyperCKemia caused by anoctamin 5 deficiency

Abstract

Several papers describing the phenotype and prevalence of the recently discovered limb-girdle muscular dystrophy type 2L (LGMD2L) caused by anoctamin 5 deficiency have been published, but no interventional studies have been performed. Aerobic training programs have previously been shown to improve physical conditioning in a range of similar myopathies. Therefore, we sought to investigate whether a supervised aerobic training program could improve endurance and functional outcomes in LGMD2L patients, as well, or whether the pronounced hyperCKemia associated with LGMD2L would escalate as a result of exercise-induced strain on muscles. The study included ten patients, of whom six completed. Patients performed home-based, but pulse-watch monitored, moderate-intensity exercise on a bike ergometer for 30 min, three times per week, for 10 weeks. Plasma CK was assessed before, during and after the program, as a marker of muscle damage. Primary outcomes were maximum oxygen uptake (VO2max) and time in the 5-repetitions-sit-to-stand test (FRSTST). Training resulted in improvements in VO2max (27 ± 7%; p = 0.0001) and FRSTST time (35 ± 12%; p = 0.007). Improvements in physiologic and functional muscle testing were accompanied by stabile levels of CK and no reports of adverse effects. Our findings suggest that supervised aerobic exercise training is both safe and effective in improving oxidative capacity and muscle function in muscular dystrophy patients with anoctamin 5 deficiency. Several papers describing the phenotype and prevalence of the recently discovered limb-girdle muscular dystrophy type 2L (LGMD2L) caused by anoctamin 5 deficiency have been published, but no interventional studies have been performed. Aerobic training programs have previously been shown to improve physical conditioning in a range of similar myopathies. Therefore, we sought to investigate whether a supervised aerobic training program could improve endurance and functional outcomes in LGMD2L patients, as well, or whether the pronounced hyperCKemia associated with LGMD2L would escalate as a result of exercise-induced strain on muscles. The study included ten patients, of whom six completed. Patients performed home-based, but pulse-watch monitored, moderate-intensity exercise on a bike ergometer for 30 min, three times per week, for 10 weeks. Plasma CK was assessed before, during and after the program, as a marker of muscle damage. Primary outcomes were maximum oxygen uptake (VO2max) and time in the 5-repetitions-sit-to-stand test (FRSTST). Training resulted in improvements in VO2max (27 ± 7%; p = 0.0001) and FRSTST time (35 ± 12%; p = 0.007). Improvements in physiologic and functional muscle testing were accompanied by stabile levels of CK and no reports of adverse effects. Our findings suggest that supervised aerobic exercise training is both safe and effective in improving oxidative capacity and muscle function in muscular dystrophy patients with anoctamin 5 deficiency.