WHAT YOU NEED TO KNOW ABOUT SPINAL MUSCULAR ATROPHY (SMA)

What is 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 leads to progressive muscle weakness, paralysis and, when left untreated in its most severe formS, permanent ventilation and death

SMA leads to progressive muscle weakness, paralysis and, when left untreated in its most severe formS, permanent ventilation and death

SMA affects as many as 1 in every 10,000 live births worldwide

SMA affects as many as 1 in every 10,000 live births worldwide

1 in 54 people carry the genetic defect for SMA

1 in 54 people carry the genetic defect for SMA

SMA can affect people of any race or gender

SMA can affect people
of any race or gender

When both parents are carriers, their baby has a 25% chance of having SMA

When both parents are carriers, their baby has a 25% chance of having SMA

IMPORTANCE OF EARLY INTERVENTION

SMA is a rare condition, yet it is the leading cause of genetic 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.

Signs and Symptoms of SMA
Watch this video to hear parents of children with SMA talk about the early signs and symptoms to look for to help reach a diagnosis quickly.

SMA Newborn Screening

Early detection is a powerful weapon in the fight against SMA. Hear from doctors and parents of children with SMA about why newborn screening could make a world of difference.