SMA (Spinal Muscular Atrophy) is a neuromuscular disease caused by mutations in the SMN1 gene, leading to varying degrees of muscle weakness and reduced mobility in affected individuals.
It is one of the most common rare diseases, and in Turkey, the carrier frequency is 1 in every 35 people. Fortunately, SMA is a preventable disease through the use of genetic screening tests.
While there are some treatment options available for SMA, they are often expensive and not definitively effective. As with many rare diseases, the most effective approach lies in pre-pregnancy genetic testing among couples with a family history of inherited disorders. In addition, premarital population screening is one of the most impactful methods for addressing this commonly seen condition.
Identifying carriers paves the way for families to have healthy children.
