SMA is one of the most common childhood neurodegenerative diseases.
With the professional support and financing of EMMI, the SMA newborn screening program can begin. Prof. Dr. Miklós Kásler , the Minister of Human Resources, the EMMI State Secretariat responsible for health developed the professional concept of screening for spinal muscular atrophy (SMA) in newborns, and provides the financial resources necessary for the implementation of the model program.
In many cases, the disease is not recognized before the symptoms appear, which makes treatment difficult, but the disorder can be detected with a genetic test from a blood sample. Infant screening for SMA is already in place in several countries as part of a research project. Currently, in Hungary, on the express recommendation of the doctor, in addition to the diseases included in the mandatory newborn screening, targeted tests for genetic diseases are carried out.
Scientific research has clearly proven that SMA treatment is more effective the earlier it can be started. In a smaller percentage of children treated from birth, traces of the disease can be detected in a significantly milder form. The introduction of SMA newborn screenings in Hungary can radically change the lives of SMA sufferers by allowing their treatment to begin even when they are asymptomatic. Early recognition and the use of effective therapy can mitigate and prevent the development of irreversible processes and complications.
Source: EMMI/OS
