SMA (Spinal Muscular Atrophy) is a genetic disease that attracts attention in the world and in our country. It is caused by problems in the movement nerve cells. For SMA to occur, two genes must be mutated. The fact that both parents carry this mutation gene increases the risk of the child to be born with SMA to 25% and this disease is seen in one out of every 6 thousand births in the world. While individuals who are carriers of SMA do not show any symptoms and risks, people with the disease may experience progressive muscle weakness over time due to weakening of the nerves that control the muscles. The SMA screening test can be a guide at this point. People can find out whether they are carriers of this disease by having an SMA screening test. For this, it may be sufficient for the person to have an easy blood test. Since SMA is a common disorder, it is very important for parents to have a carrier test.
It is called Spinal Muscular Atrophy. SMA leads to muscle loss and weakness. This disorder, which affects the movement function by affecting many muscles in the body, negatively affects the living standards of individuals. Therefore, couples getting married should have SMA screening tests before marriage. With this screening test, it can be determined whether individuals are carriers or not. If people are SMA carriers, they can resort to in vitro fertilization to give birth to a healthy baby if they wish.
What is SMA Disease?
SMA (Spinal Muscular Atrophy) is a rare neuromuscular disorder associated with progressive muscle deprivation originating from the motor nerve cells. The disorder affects motor nerve cells in the spinal cord, impairing the functioning of basic skills such as walking, feeding and breathing. It is known that more than 95% of mutations are caused by a deficiency in the SMN1 gene. It is therefore possible for families to find out whether their child has this mutation with a simple blood test to prevent them from being born with this condition. After analyzing the mutations that occur in more than 95% of cases, the results are shared with the hereditary counselor. Other rare mutations can be analyzed with additional tests if necessary. After the results, if the individual is a carrier, he/she is directed to the relevant specialist doctors and a process can be initiated against the dangers associated with this disease.
How is the SMA Screening Test Performed?
Within the scope ofthe Pre-Marriage National SMA Carrier Screening Program , it can be determined whether the couples to be married are carriers by having SMA screening. With the SMA screening test, the possibility of SMA in the child to be born in the future can be determined. For this, it will be sufficient for the person to have a simple blood test. As a result of the screening, couples whose genetic conditions are in danger of giving birth to a child with SMA can have a child away from this danger by in vitro fertilization if they wish.