Za više od dve godine neonatalnog skrininga SMA dijagnostikovana kod 20 beba u Srbiji
Spinalna mišićna atrofija (SMA), donedavno najsmrtonosnija genetska bolest dece do pete godine, danas se u Srbiji otkriva već na rođenju. Od uvođenja obaveznog neonatalnog skrininga u septembru 2023. godine testirano je 136.899 beba, a kod 20 je potvrđena dijagnoza SMA, što je omogućilo pravovremeno započinjanje terapije i značajno bolje ishode lečenja.
TL;DR
- Mandatory neonatal screening for Spinal Muscular Atrophy (SMA) began in Serbia in September 2023.
- 136,899 babies have been screened, with 20 diagnosed with SMA, enabling early treatment.
- Early detection and treatment are crucial for SMA as time without therapy leads to the loss of motor neurons.
- The process from diagnosis to therapy approval has been significantly shortened to a few days.
- Multidisciplinary long-term patient monitoring includes rehabilitation, nutritional, and respiratory support.
- The SMA Serbia association, founded nine years ago, has been instrumental in raising awareness and improving diagnostic and treatment accessibility.
- Focus is being placed on both pediatric and adult SMA patients, emphasizing that therapy is a fundamental right regardless of age.
- Full inclusion, encompassing education, employment, and societal participation, is stressed as essential for a meaningful life for SMA patients, not just survival.