Spinal Muscular Atrophy Screening

What is SMA screening?

Spinal Muscular Atrophy (SMA) is a rare, inherited genetic disease that causes progressive muscle weakness and atrophy (wasting away). It is a neuromuscular disorder that primarily affects the motor neurons - the specialised nerve cells in the spinal cord and brainstem that control voluntary muscle movement.

The severity and age of onset determine the type of SMA, but the main symptom is muscle weakness, usually more pronounced in the proximal muscles (those closer to the center of the body, like the shoulders, hips, and upper back).

Why do we need screening for newborns?

While there is no cure, the landscape for SMA treatment has changed dramatically in recent years with the introduction of disease-modifying therapies that target the underlying genetic cause. Recent studies suggest greater effectiveness when treatments are given early, in the presymptomatic stage. 

Screening for SMA is critically important because it enables pre-symptomatic treatment, which is the only way to prevent the rapid and irreversible death of the motor neurons that control movement.