What Causes SMA?
This gene gives the body instructions for making 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 help control voluntary muscles used for movement, posture, breathing, swallowing, and daily independence. When the SMN1 gene is missing or not working properly, the body does not 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 inherited through family DNA. SMA is most often passed down 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 SMA symptoms, so many families may not know they are carriers until genetic testing is done or a child receives a diagnosis. Carriers have one faulty copy and one functioning copy of SMN1, and approximately 1 in 50 people is a genetic carrier for SMA. When both parents are carriers, each pregnancy has about a 25% chance of resulting in a child affected by SMA.
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