Diagnosis and clinical management of spinal muscular atrophy

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by degeneration of lower motor neurons, with resulting progressive muscle weakness. The clinical phenotype and disease severity can be varied and occupy a wide spectrum. Although many advances have been made regarding our understanding of SMA, no cure is yet available. The care of patients who have SMA can often be complex, with many medical issues to consider. When possible, a multidisciplinary team approach is effective. The current understanding of SMA, and the clinical management and rehabilitative care of patients who have SMA, are discussed in this article.