1 Department of Clinical Medicine, Department of Clinical Medicine, Faculty of Health and Medical Sciences, Københavns Universitet2 unknown3 Department of Clinical Medicine, Department of Clinical Medicine, Faculty of Health and Medical Sciences, Københavns Universitet
INTRODUCTION: Anoctamin 5 deficiency has recently been defined to cause limb-girdle muscular dystrophy type 2L (LGMD2L) with pronounced hyperCKemia. No treatment interventions have been made so far in this condition. METHODS: In 6 patients with LGMD2L, we studied the effect of home-based, pulse-watch monitored, moderate-intensity exercise on a cycle ergometer for 30 minutes, 3 times weekly, for 10 weeks. Plasma creatine kinase (CK) was assessed before, during, and after the program as a marker of muscle damage. Primary outcome measures were maximum oxygen uptake (VO(2max)) and time in the 5-repetitions-sit-to-stand test (FRSTST). RESULTS: Training resulted in improvements in VO(2max) (27 ± 7%; P = 0.0001) and FRSTST time (35 ± 12%; P = 0.007). Improvements in physiologic and functional muscle testing were accompanied by stable CK levels and no reports of adverse effects. CONCLUSIONS: These findings suggest that supervised aerobic exercise training is safe and effective in improving oxidative capacity and muscle function in patients with anoctamin 5 deficiency.
Muscle and Nerve, 2014, Vol 50, Issue 1, p. 119-123