SMA is a genetically inherited and progressive muscle disease. Weakness, feeding and respiratory problems occur as a result of affecting the anterior horn motor neuron cells in the spinal cord, which control the muscle movements of our body. In the following periods, varying degrees of limitation in joint movements (contractures), spinal deformities (scoliosis), feeding and respiratory problems may be observed. Vision, hearing and cognitive functions are not affected in SMA disease, which can cause weakness in voluntary muscle movements and muscle wasting. />
For this reason, it is recommended that couples who are considering pregnancy for the first time or have children have a Carrier Screening Test for future pregnancies.
The carrier frequency of SMA, which is a preventable disease, in the population varies between approximately 1/40 and 1/60. On average, one in every 50 individuals in society is a carrier for SMA disease.
A tube of blood for the Carrier Screening Test is the first step towards a healthy future.