AUGUST IS SMA AWARENESS MONTH

Spinal Muscular Atrophy (SMA), a preventable disease, has a carrier prevalence of approximately 1 in 40 to 1 in 60 in the general population. On average, one in every 50 individuals in the population is a carrier of SMA.

A blood sample for a Carrier Screening Test is the first step towards a healthy future. SMA is a genetically inherited and progressive muscle disease. It affects the anterior horn motor neuron cells in the spinal cord, which control muscle movement, resulting in weakness, feeding, and respiratory problems. In later stages, varying degrees of joint movement restriction (contractures), spinal deformities (scoliosis), and feeding and respiratory problems may occur. While weakness and muscle atrophy in voluntary muscle movements can be observed in SMA, vision, hearing, and cognitive functions are not affected.

For every natural pregnancy of a father and mother who are carriers of SMA, there is a 25% chance that their child will have SMA.

Therefore, it is recommended that couples planning a pregnancy for the first time or those who already have children undergo a Carrier Screening Test for future pregnancies.