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.
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.
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.
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.
It's a energizing time in the SMA community. There are currently 3 approved treatments for SMA, but none are a cure. 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 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.
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