What is SMA disease, what are its symptoms? What is SMA screening and who gets the disease?

After making SMA screenings compulsory for marriage, it is wondered what SMA disease is and in whom it is seen. It will be possible to prevent the disease with screenings. Symptoms of the disease were also the subject of research. So what is SMA disease? Here are the symptoms…


SMA disease, known as a muscle disease, is frequently seen in our country as well.d SMA is a progressive and fatal muscle disease that affects the cells in the spinal cord and limits its mobility. The signs/symptoms of SMA vary according to the type of disease. The disease is known as an inherited and progressive muscle disease that affects nerve cells.

SMA affects motor nerve cells in the spinal cord, impairing the functioning of basic abilities such as walking, eating and breathing. Since it is a common disease in our country, it is very important for parents to have a carrier test.

It is known that more than 95% of the mutations are caused by a deficiency in the SMN1 gene. For this reason, it is possible for parents to learn whether they carry this mutation with a simple blood test in order to prevent their children from being born with this risk of disease.

After examining the mutations seen in more than 95%, the results are shared with genetic counseling. Other rare mutations can be examined with additional tests when necessary. After the results are determined, the individual is directed to the relevant specialists if he is a carrier, and a roadmap is drawn up against the risks related to this disease.


Although there is no specific treatment for SMA disease, it is aimed to increase the quality of life of the patient by providing certain care to the patient. However, with the developing medical technology, 2 types of studies are carried out in order to find a cure for SMA disease. One of them is genetic therapy. With this therapy, the causes of SMA are tried to be eliminated. Another form of treatment is cellular replacement therapy. In this way, dead cells or dying cells are tried to be replaced with new ones.


Although the symptoms vary between individuals, they are usually seen in the following ways.

Lying in the frog leg position
-Fasiculation in language
-Loose musculature
-Inability to walk
-Respiratory system retention
-Nutrition disorders
-Skinny cry
-Decreased arm and leg movements
-Decreased deep tendon reflexes
-Lagging behind peers, slow-moving

The same symptoms; It can also be seen in different diseases. For this reason, the definitive diagnosis is made by genetic examination.