Management & Treatment
While there are as yet no specific pharmaceutical therapies which have been confirmed which can either extend lifespan or increase strength in SMA subjects, the identification of compounds that can increase SMN protein in cells from SMA subjects and in genetic animal models of SMA is promising. Moreover, proactive management strategies to optimize lung function, physical mobility and nutrition can help preserve motor function, improve quality of life and extend survival, particularly in more severely affected SMA infants and young children.
Following diagnosis in children with milder forms of SMA, including the infant with an as yet uncertain prognosis, it is important to work closely with parents in order to anticipate problems and pursue management aggressively to optimize outcomes. Because of the tremendous variability in severity of muscle weakness, an individualized approach is often necessary. Far too often, respiratory, nutritional and even physical rehabilitation interventions are reactive rather than proactive.
Treatment for the intermediate or milder forms of SMA should be focused on preserving mobility and minimizing respiratory complications, particularly restrictive pulmonary disease or respiratory compromise due to progressive scoliosis. Specific interventions can be helpful in optimizing the individual's health and helping to maintain motor function.