# Introduction to Spinal Muscular Atrophy (SMA) Keywords: spinal muscular atrophy, SMA, genetic cause, motor neurons, muscle atrophy, 5q SMA, nusinersen, Spinraza > This page provides an overview of spinal muscular atrophy (SMA), its genetic causes, clinical classification, and treatment options, including the disease-modifying therapy Spinraza. ## Details - [Introduction](#): Spinal muscular atrophy (SMA) is a leading genetic cause of death in infants, characterized by motor neuron degeneration and muscle atrophy. - [Genetic Cause](#): SMA is primarily caused by mutations in the SMN1 gene, with the SMN2 gene playing a modifying role; symptoms and challenges vary widely. - [Natural History](#): Untreated SMA leads to progressive muscle degeneration and severe clinical manifestations over time. - [Measures of Motor Function](#): Tools and methods to assess motor function in individuals with SMA. - [SPINRAZA® Nusinersen](#): Spinraza is the first approved disease-modifying treatment for 5q SMA.