Abstract
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.
| Original language | English |
|---|---|
| Journal | Muscle & Nerve |
| Volume | 50 |
| Issue number | 1 |
| Pages (from-to) | 119-23 |
| Number of pages | 5 |
| ISSN | 0148-639X |
| DOIs | |
| Publication status | Published - Jul 2014 |
Keywords
- Adult
- Anaerobic Threshold
- Chloride Channels
- Creatine Kinase
- Exercise
- Exercise Test
- Female
- Heart Rate
- Humans
- Male
- Middle Aged
- Mobility Limitation
- Muscular Dystrophies, Limb-Girdle
- Mutation
- Neurologic Examination
- Patient Compliance
- Physical Education and Training
- Treatment Outcome