SMA - CLINICAL: P.86 Diminished muscle oxygen Uptake and fatigue during exercise in ambulatory spinal muscular atrophy patients

Abstract

Spinal muscular atrophy (SMA) patients suffer fatigue and respond poorly to aerobic conditioning. Neuromuscular junction abnormalities are documented in animal models and provide a possible explanation for fatigue in SMA patients. Muscle tissue from SMA patients exhibit mitochondrial depletion and impaired mitochondrial biogenesis that is inversely related to SMN availability but correlations with clinical symptoms have not been explored. Peak aerobic capacity (VO2peak) and workload (Wpeak) were measured using a cardiopulmonary exercise test (CPET) in 19 ambulatory SMA and 16 healthy children and adults.