The diagnosis of spinal muscular atrophy (SMA), especially Type 1, is a medical emergency, as SMA is a leading genetic cause of death in infants. In infants with SMA Type 1, the onset of irreversible denervation occurs within the first 3 months with loss of 90% of motor units occurring within 6 months of age.
This supplement examines the clinical implications of delayed diagnosis of SMA, as well as assessment tools, treatment methods, and resources that are available for physicians, patients, and caregivers to better manage this rare disease.