Spinal Muscular Dystrophy (SMA) is one of the leading causes of death in
children from heritable diseases. It is reported that the incidence of
SMA is higher in the Saudi population. 4198 healthy volunteers between
18 to 25 years old were included in this study of which (54.7% males vs
45.3% females). Whole blood was spotted from finger pricks onto IsoCode
StixTM and genomic DNA was isolated using one triangle from the machine.
Carrier frequency and population-level data were used to estimate the
prevalence of SMA in the population utilizing the life table method.
Results showed the presence of one copy of the SMN1 gene in 108
samples, two copies in 4090 samples, and a carrier frequency of 2.6%.
Carrier figurine was twofold in females and 27% of participants were
children of first-cousin marriages. The birth incidence of SMA was
estimated to be 32 per 100,000 birth and the total number of people
living with SMA in KSA to be 2,265 of which 188 are type I, 1,213 are
type II, and 864 are type III. The SMA carrier rate of 2.6 % in Saudi
subjects is slightly higher than the reported global frequency with
links to the consanguineous marriages.