Spinal Muscular Atrophy (SMA), which causes the voluntary muscles in the body to weaken and melt, is a genetic disease that is usually seen in infancy. SMA, which seriously affects the quality of life, is seen in 1 in 6,000 to 10,000 births worldwide, while 1 in every 40 to 60 people are born as carriers.
August stands out as “SMA Awareness Month”. With the events and seminars organized throughout the month, topics such as the genetic structure of SMA, the importance of early diagnosis and carrier tests are discussed, aiming to increase social awareness in the fight against the disease. Assoc. Prof. Dr. Mahmut Çerkez Ergören, Head of the Medical Genetic Diagnostic Laboratory of the Near East University Hospital, within the scope of “SMA Awareness Month”, emphasized the importance of early diagnosis and the need to make carrier tests widespread.
The main cause of SMA; consanguineous marriages
The incidence rates of SMA vary across populations. In Germany and the USA, 1 in 10,000 people, 1 in 5,000 people in Turkey, and 1 in 2,500 people in the north of Cyprus were found to be SMA carriers or have the disease. The main reason for the high rates in Turkey is that consanguineous marriages are common. The data is quite important in terms of revealing regional differences in SMA and how carrier risks are related to social factors.
Early genetic diagnosis tests are extremely important!
SMA, which is divided into four main types according to the age of onset, clinical examination findings, muscle biopsy, and electrophysiological criteria, causes many children to lose their lives. The most severe form of the disease, which seriously affects basic functions such as walking, eating, or breathing, is known as Type 1, which is usually diagnosed before 6 months and has a very short life span. In Types 2 and 3, the disease is milder, and in both cases, SMA threatens the lives of children.
Assoc. Prof. Dr. Mahmut Çerkez Ergören, stated that genetic tests, which are applied in many countries, have been made mandatory before marriage in Turkey, and underlined that these tests are successfully performed at the Near East University Hospital in the TRNC. Assoc. Prof. Dr. Çerkez Ergören said, “With the tests we perform at our hospital, we can confirm the diagnosis of SMA with carrier tests for couples at risk, prenatal tests for high-risk pregnancies, newborn screening and genetic tests for family members.”