Skeletal Muscle in Spinal Muscular Atrophy As an Opportunity for Therapeutic Intervention

Abstract Skeletal muscle is a form of striated muscle that provides vertebrates with locomotive ability, in addition to serving metabolic and endocrine roles in the organism. Although spinal muscular atrophy (SMA) is considered primarily a neuronal disorder, the substantial atrophy of muscle mass in affected individuals is a striking feature of the disease. With advancements in knowledge of both SMA pathology and skeletal muscle biology, skeletal muscle has emerged as a therapeutic target for SMA. This chapter reviews skeletal muscle physiology as it fits in the context of SMA pathology and therapeutic development.