What is Spinal Muscular Atrophy?
SMA (spinal muscular atrophy) is a disease that robs people of physical strength by affecting the motor nerve cells in the spinal cord, taking away the ability to walk, eat, or breathe. It causes progressive weakness until the body simply cannot continue. SMA is the number one genetic cause of death for infants.
What causes SMA?SMA is caused by a mutation in the survival motor neuron gene 1 (SMN1). In a healthy person, this gene produces a protein that is critical to the function of the nerves that control our muscles. Without it, those nerve cells cannot properly function and eventually die, leading to debilitating and often fatal muscle weakness.
Who does it affect?SMA affects approximately 1 in 6000 babies, and about 1 in every 40 Americans is a genetic carrier. SMA can affect any race or gender.
How does it affect the individual?Individuals with SMA have difficulty performing the basic functions of life, like breathing and swallowing. However, SMA does not affect a person’s ability to think, learn, and build relationships with others.
Is there a cure for SMA?It's a energizing time in the SMA community. On December 23, 2016, the FDA announced the approval of the first-ever therapy for SMA. Spinraza™ (nusinersen) is not only a treatment, it also addresses the underlying genetic cause of SMA. The approval from the FDA for all SMA — pediatric and adult — is the broadest possible label, with no restrictions.
However, while the scientific world now knows what causes SMA and what needs
to be done to develop effective therapies, they have yet to develop a treatment that works for everybody. There are
also issues with pricing and access to the Spinraza™ treatments.
So our work is not done. We must continue to develop and
deliver effective therapies that will change the
course of SMA for everyone affected — from infants to adults — and eventually lead to a cure.