Spinal muscular atrophy epidemiology and demographics

Editors-in-Chief: C. Michael Gibson, M.S., M.D.; Priyamvada Singh, MBBS

Overview

 * Incidence of SMA – 1 in 6,000 – 10,000 live births or 7.8-10 per 100,000 live births.


 * Carrier frequency for SMN 1 gene mutation is 1:38 to 1:50., , ,


 * 7.5 million Americans are carriers.


 * A 2005 study in Cuba found a reduced incidence of Type I SMA amongst the Cuban population overall, (3.53 per 100,000 live births) and especially amongst those of African ancestry (0.89 to 0.93 per 100,000 live births).