Treatment and Management of Spinal Muscular Atrophy and Congenital Myopathies

Spinal muscular atrophy (SMA) and the congenital myopathies (CMs) typically present in neonatal, infantile, and early childhood ages with hypotonia and weakness. Organs that may be involved include heart, lungs, gastrointestinal tract, eyes, spine, and joints, especially in CMs. In this chapter, we discuss the clinical presentations of these disorders while highlighting the genetic and pathophysiologic variability. We review the advances in genetic testing and the development of targeted gene therapies that have altered the natural course of these disorders, in particular SMA. Importantly, we focus on supportive management by systems and screening for complications which remain key components of patient care and have a profound effect on quality of life.