What is SMA?
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 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 10,000 babies, and about 1 in every 50 Americans is a genetic carriers. SMA can affect any race or gender.
There are four primary types of SMA—I, II, III, and IV—based on age of onset and highest physical milestone achieved.
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.
Though there is currently no approved treatment for SMA, there’s great reason for hope. We know what causes SMA and what we need to do to develop effective therapies, and we’re on the verge of major breakthroughs that will strengthen our children’s bodies, extend life, and eventually lead to a cure.
Credit – www.curesma.org