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. People with SMA do not produce survival motor neuron (SMN) protein at high enough levels. Without this protein, those nerve cells cannot properly function and eventually die, leading to debilitating and sometimes fatal muscle weakness.
We believe that SMA might affect around 1 in 11,000 births and about 1 in every 50 persons is a genetic carrier. SMA can affect any race or gender. If you know more about SMA then either you or people you care about can prevent it, or get an early diagnosis and intervention for a loved one who is affected by SMA.
There are four main types of SMA (1, 2, 3, and 4) based on the age symptoms begin and the highest physical milestones 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.
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