Spinal Muscular Atrophy: Types and Genetics

Spinal Muscular Atrophy (SMA)

SMA is a rare and devastating genetic disease caused by a lack of a functional survival motor neuron 1 (SMN1) gene, resulting in the rapid and irreversible loss of motor neurons, affecting muscle functions, including breathing, swallowing and basic movement.

SMA is a rare condition, yet it is the leading genetic cause of infant death. It is imperative to diagnose SMA and begin treatment, including proactive supportive care, as early as possible to halt irreversible motor neuron loss and disease progression.