SMA disease, which is a genetically inherited disease, is transmitted from sick or carrier people to children. SMA, which has received a lot of attention on social media recently, is a muscle disease that affects the anterior horn motor nerve cells in the spinal cord and restricts mobility.
WHAT IS SMA?
In this disease, whose incidence is 25%, the SMA gene cannot produce any protein and the motor nerve cells in the body cannot be fed. Thus, voluntary muscles cannot do their job. In some cases of SMA, also known as ‘loose baby syndrome’, eating and breathing become impossible. This disease does not harm the senses of sight and hearing. The person’s intelligence level is normal or above normal. On the other hand, the incidence of SMA in children of carrier parents is 25 percent.
CAN SMA BE PREVENTED?
This disease can be prevented with a test. If the SMA test, which should be done specifically, is not done, it is not possible to know the SMA carrier. It is very important to have the SMA test done during the marriage process. In this way, prospective parents can have a healthy child with the Preimplantation Genetic Diagnosis (PGD) method, which is a method similar to IVF.
Although consanguineous marriages are among the causes of SMA, it is not the only reason. The fact that SMA is preventable is an important issue to know about this rare and genetically transmitted muscle disease. One out of every 50 people is an SMA carrier.
WHAT ARE SMA SYMPTOMS?
- Weak muscles and weakness leading to lack of motor development
- Difficulty sitting and standing
- hand tremor
- shaking hands
- frequent falls
- Inability to maintain head control
- feeding difficulties
- Weak voice and weak cough
- Cramps and loss of walking ability
- lag behind peers
- Difficulty keeping balance
- Difficulty sitting, standing and walking
- decreased reflexes