Spinal muscular atrophy

The disease develops only if the child inherits the broken gene from both the mother and the father. According to various sources, carriers of the disease are up to 19% of the population. If a broken gene is inherited from only one parent, there will be no external manifestations of the disease, but the person will be a carrier. The disease debuts from birth, weakness of all muscles is observed and there are problems with breathing, intestinal motility. There is genetic treatment for this disease, so its timely diagnosis is very important. It is equally important to identify in advance the asymptomatic carriers of the broken gene in order to prevent the birth of a sick child in the family.