More than 95% of patients with SMA have a homozygous disruption in the SMN1 gene on chromosome 5q, which is the result of mutation, deletion or rearrangement. However, most patients with SMA retain at least one copy of SMN2, which generates only 10% of the amount of full-length SMN protein versus SMN1.
Males are more frequently affected by SMA than females, particularly with the early-onset forms of SMA (ie, types 1 and 2).
Learn more about SMA.
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Cite this: Stephen L. Nelson. Fast Five Quiz: Spinal Muscular Atrophy - Medscape - Jan 14, 2021.