Leg muscle function and fatigue during walking in spinal muscular atrophy type 3

INTRODUCTION: Spinal muscular atrophy (SMA) causes muscle weakness and fatigue. Better understanding of the relationship between weakness and fatigue may help identify potential targets for rehabilitation. METHODS: Gait and surface electromyography (EMG) from 4 muscle groups were measured during the Six-Minute Walk Test (6MWT) in 10 ambulatory participants, aged 9-49 years. Average root mean square amplitude (RMS) of muscle activity was calculated. Strength was assessed using manual and quantitative methods. RESULTS: RMS, stride length, and velocity decreased during the 6MWT. Knee flexor and hip abductor strength was associated with fatigue-related changes; overall strength correlated with disease duration; and leg strength was associated with 6MWT distance. CONCLUSIONS: Clinical measures are valid in assessing fatigue and function in SMA, and these assessments can be enhanced by use of gait analysis and EMG. Disease duration and strength measures may represent further stratification refinements when enrolling patients in clinical trials.