What Causes SMA?
Spinal Muscular Atrophy, also known as SMA, is a rare genetic neuromuscular disease most commonly caused by changes in the survival motor neuron 1 gene, also called the SMN1 gene. This gene helps the body make survival motor neuron protein, which is essential for the health of motor neurons. Motor neurons are nerve cells in the spinal cord and brainstem that send signals to the muscles used for movement, posture, breathing, swallowing, and daily independence. When the SMN1 gene is missing or not working properly, the body cannot make enough SMN protein, causing motor neurons to weaken or atrophy leading to progressive muscle weakness.
The cause of Spinal Muscular Atrophy is genetic, which means SMA is usually passed down through family DNA. SMA is most often inherited in an autosomal recessive pattern, meaning a child typically must inherit two non-working copies of the SMN1 gene — one from each parent — to have the condition. Parents who carry one non-working copy usually do not have symptoms, so many families may not know they are SMA carriers until carrier screening, newborn screening, or genetic testing is done. SMA is autosomal recessive and approximately 1 in 50 people are genetic SMA carriers.
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