Spinal Muscular Atrophy (SMA) is a rare genetic disease that affects approximately 1 in 11,000 births. It is the leading genetic cause of death in infants. Up until just a few years ago, an SMA diagnosis was a death sentence. There are now three amazing treatments available that can slow and even stop the progression of this horrible disease.

 

Individuals affected by SMA have either a mutated or deleted survival motor neuron gene (SMN1). This gene produces a protein that keeps motor neurons (the nerves that control our muscles) healthy. Without the production of this protein, the motor neurons become sick and eventually die. This leads to the atrophy of muscles. Not only does SMA affect the ability to walk, stand, sit and move the arms or legs; it also affects the muscles we use to chew, swallow and even breathe!

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Because of the incredible research being done, we now have three FDA approved treatments for SMA. There are also several more in the FDA pipeline that will hopefully be approved within the next couple years. These treatments are able to stop the progression of this horrific disease and many patients even see remarkable improvement after treatment. 

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