‘Vicious circle of generations with SMA’ can be broken by screening tests

gave | Friday, February 26, 2021 – 16:37 | Last Updated: 26 02 2021 – 16:37

Underlining that the pediatrician should make a pre-diagnosis of SMA in the baby in order to perform a diagnostic test for Spnal Muscular Atrophy (SMA) patients, Medical Genetics Specialist Assoc. Dr. Ayşegül Kuşkucu said, “SMA is suspected if there are findings such as muscle weakness, inactivity and looseness in the baby. After the pre-diagnosis, the mutation in the SMN (Survival Motor Neuron) gene that causes SMA disease is referred to medical geneticists for examination. However, if couples are screened with the SMA test before they have a baby and it is determined that they are carriers, it will be possible to have healthy children with the methods and tests they will plan together by medical genetic experts.

SMA, 1 in every 10 thousand births in the world, a disease that is seen in 1 out of 6 thousand births in Turkey. SMA is about 3 thousand in Turkey is estimated to be patient. In babies evaluated by pediatric neurologists, the final diagnosis is made as a result of genetic testing after clinical findings and EMG test findings. More than 95 percent of SMA patients have mutations in different genes such as NAIP in the other 5 percent remaining in the SMNt gene.

For more consanguineous marriage rate in Turkey is much faster rate than the world in general SMA baby Genetic Diseases Noting seen from the Assessment Center of Medical Genetics Specialist Assoc. Dr. Ayşegül Kuşkucu gave information about the connection between SMA and consanguineous marriage.


Stating that the frequency of consanguineous marriages increases the SMA rates, Assoc. Dr. Skeptic, “SMA is a recessive inherited disease (recessive inheritance). For the disease to occur, both mother and father must be carriers of the disease. Carrier parents are not sick, but when the mutant gene they carry is passed on to the child, the child may have SMA. Situations in which both parents are carriers are usually seen in consanguineous marriages. Because relatives have more common genes, therefore, the emergence of recessive diseases such as SMA after the marriage of people who carry a faulty gene in a family is more common. If the mother and father are carriers for SMA, the probability of all their future children to be SMA patients is 25 percent. This means that surrogate parents may have healthy or healthy and surrogate children like themselves ”.


Pointing out that if the parents are known to be carriers of SMA disease, the presence of SMA in the baby can be determined by genetic tests that can be performed during pregnancy, Assoc. Dr. Skeptic said, “If it is determined that mother and father candidates who have a family history of SMA or who have consanguineous marriage are carriers with blood tests, we can learn whether there is SMA disease without touching the baby with cord villus biopsy at the 10th week of pregnancy or amniocentesis after the 16th week,” he said.


Emphasizing that parents with SMA carriers can have healthy babies with IVF treatment, Yeditepe University Hospitals Medical Genetics Specialist Assoc. Dr. Ayşegül Kuşkucu continued her words as follows:

“Thus, by breaking the SMA cycle in the family, we enable healthy children to be born in future generations. Children do not have the same disease as their parents. Genetic diseases may not be inherited to the baby to be born. It is possible for expectant mothers and fathers, who are known to be carriers of genetic diseases or diseases, to give birth to healthy babies with IVF treatment. “

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