Aerobic training in patients with anoctamin 5 myopathy and hyperckemia

作者：Vissing Christoffer R^*; Preisler Nicolai; Husu Edith; Prahm Kira P; Vissing John

来源：Muscle & Nerve, 2014, 50(1): 119-123.

DOI：10.1002/mus.24112

• aerobic training
• ANO-5
• anoctamin 5
• limb-girdle muscular dystrophy type 2L
• neuromuscular disorders

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 (VO2max) and time in the 5-repetitions-sit-to-stand test (FRSTST). Results: 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 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 Nerve 50: 119-123, 2014

• 出版日期2014-7