Spinal muscular atrophy - Wikipedia Spinal muscular atrophy (SMA) is a rare neuromuscular disorder that results in the loss of motor neurons and progressive muscle wasting [3][4][5] It is usually diagnosed in infancy or early childhood and if left untreated it is the most common genetic cause of infant death [6]
What is Spinal Muscular Atrophy: Symptoms, Causes, and More - Cure SMA Spinal muscular atrophy (SMA) is caused by a mutation in the survival motor neuron gene 1 (SMN1) A healthy person typically has two copies of the SMN1 gene SMA occurs when both of an individual’s SMN1 copies have missing or mutated segments