What is SMA (Spinal Muscular Atrophy)? SMA (Spinal Muscular Atrophy) is an inherited genetic disease that affects the nervous system, specifically the motor neurons in the spinal cord that control muscle movement. As a result of damage to these cells, the muscles gradually weaken and lose their function. The severity of the disease can vary from very severe forms that appear in the first months of life to milder forms that develop later.
SMA is caused by the absence or mutation of the SMN1 gene, which is responsible for producing a protein essential for the survival of motor neurons. The disease is inherited in an autosomal recessive manner, meaning that a child must inherit the affected gene from both parents to develop the disease. If both parents are carriers, there is a 25% chance that the child will be affected.
Who should take this test? SMA testing is recommended in several cases: • Couples planning a pregnancy • Women during pregnancy (prenatal screening) • Individuals with a family history of SMA • The partner of a person who tests positive as a carrier • Infants or children with symptoms of muscle weakness
Early testing helps with informed decision-making and with managing the disease as effectively as possible.
Why is the SMA test important? Diagnosis and carrier identification are very important because: • It helps prevent transmission of the disease • It enables safer pregnancy planning • It allows early diagnosis and earlier intervention • It provides valuable information for the family and future generations
How is the SMA test performed? • A blood sample is collected from the patient • DNA is isolated and analyzed using advanced genetic methods • The absence or mutation of the SMN1 gene is identified
SMA is a genetic disease that affects the muscles; testing helps determine whether you are a carrier or at risk of passing it on.
The test is performed using only a blood sample, which is analyzed in the laboratory.
No, it is a simple procedure, just like any other blood test.
Results are usually available within 7–10 working days.
Yes, because you may be a carrier without showing any symptoms.
It means that you may pass the gene on to your child, even though you do not have the disease yourself.
Yes, if one partner tests positive as a carrier, testing the other partner is recommended.
There is a 25% chance that the child will be affected by SMA.
Yes, the test can also be performed during pregnancy to assess the risk.
Because it helps you make informed decisions about your health and family planning.
