title: Aerobic training in patients with anoctamin 5 myopathy and hyperckemia.
abstract: BACKGROUND
  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.
authors.affiliation: Neuromuscular Research Unit, Department of Neurology, Section 3342, Rigshospitalet, University of Copenhagen, Blegdamsvej 9, DK-2100, Copenhagen, Denmark.
authors.forename: Christoffer R
authors.initials: CR
authors.lastname: Vissing
authors.forename: Nicolai
authors.initials: N
authors.lastname: Preisler
authors.forename: Edith
authors.initials: E
authors.lastname: Husu
authors.forename: Kira P
authors.initials: KP
authors.lastname: Prahm
authors.forename: John
authors.initials: J
authors.lastname: Vissing
mesh_terms: D000328:Adult; D015308:Anaerobic Threshold / Q000502:physiology; D000075368:Anoctamins; D018118:Chloride Channels / Q000235:genetics*; D003402:Creatine Kinase / Q000378:metabolism; D015444:Exercise / Q000502:physiology*; D005080:Exercise Test; D005260:Female; D006339:Heart Rate / Q000502:physiology; D006801:Humans; D008297:Male; D008875:Middle Aged; D051346:Mobility Limitation; D049288:Muscular Dystrophies, Limb-Girdle / Q000235:genetics / Q000534:rehabilitation*; D009154:Mutation / Q000235:genetics; D009460:Neurologic Examination; D010349:Patient Compliance; D010806:Physical Education and Training / Q000379:methods*; D016896:Treatment Outcome
chemical_list: C547813:ANO5 protein, human; D000075368:Anoctamins; D018118:Chloride Channels; D003402:Creatine Kinase
keywords: ANO-5; aerobic training; anoctamin 5; limb-girdle muscular dystrophy type 2L; neuromuscular disorders