Can a child get SMA if only one parent is a carrier?

by Marisa Wexler, MS | January 20, 2023

Can a child get SMA if only one parent is a carrier?

Category: SMA Causes

Spinal muscular atrophy (SMA) is a disorder that only develops if a person inherits two mutated copies of the SMN1 gene. If only one parent is a carrier, the child can only inherit one mutated copy and it is extremely unlikely he or she will develop SMA. However, in extremely rare cases, a mutation can develop spontaneously in a sperm or egg cell, so the disease can develop in a child even though the parent is not a carrier.

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About the Author

Marisa Wexler, MS Marisa holds a Master of Science in cellular and molecular pathology from the University of Pittsburgh, where she studied novel genetic drivers of ovarian cancer. Her areas of expertise include cancer biology, immunology, and genetics, and she has worked as a science writing and communications intern for the Genetics Society of America.