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* president of SLA families
Newborn screening for spinal muscular atrophy (SMA) is currently the most powerful weapon we have to fight the disease. Not everyone knows it and in fact it often “discounts” the few spotlights on rare diseases. Presenting it in one sentence: it is a pathology that progressively weakens the muscles. Muscles that actually work very well, what is wrong is the signal that should be coming to them from the motor neurons.