What is the SMA carrier frequency for the general population?

SMA (Spinal Muscular Atrophy) is a genetic disorder caused by a deficiency of the survival motor neuron (SMN) protein, with carrier frequency providing insight into how prevalent the condition is within the general population. The carrier frequency for SMA in the general population is indeed estimated to be between 1 in 40 to 1 in 60 individuals. This range reflects the proportion of people who carry one copy of the mutated gene, while not expressing the disease themselves.

Understanding that carrier frequencies can vary slightly based on different populations, the range of 1/40 to 1/60 is commonly cited in literature and clinical guidelines, making it an important figure for genetic counselors when assessing risk and providing information to individuals and families potentially affected by SMA. This data is crucial for carrier screening and counseling practices, emphasizing the need for awareness of genetic risks in family planning and prenatal settings.