Treatment period without symptoms in SMA

Neuromuscular diseases, a significant portion of which are rare diseases when evaluated individually in Turkey, constitute a significant health burden affecting millions of people when evaluated together. In our country, neuromuscular diseases are much higher than expected in terms of total patient burden.

It is estimated that the number of patients living with ALS in Turkey is approximately 10 thousand, and the number of patients living with SMA, which has a special importance due to the great developments in treatment in recent years, is over 3 thousand. Children with SMA, who could barely survive until the age of 2 in the past, can reach the age of playing ball. This result emerges with the increase in genetic treatments. Until recently, we were able to diagnose many neuromuscular diseases, try to prevent complications and preserve the patient's quality of life. We could not offer treatment that would change the natural course of the disease. Today, we are talking about treatments that directly target the genetic mechanism of the disease, especially SMA. The most critical element of success in treatment is timing. Starting treatment as early as possible, even before symptoms appear in some cases, significantly changes the treatment results.