A Gene, A Breakthrough, A Challenge: Lessons From the History of Spinal Muscular Atrophy

as a modifier gene was the breakthrough in the history of spinal muscular atrophy (SMA). It was the discovery of this gene that led to the discovery of 3 disease-modifying drugs that were approved for use by the US Food and Drug Administration and the European Medicines Agency. This brings to one's mind the fact that the earliest description of this disease happened a century ago. The persistent efforts of a few scientists have rewritten the destiny of children with SMA. With the discovery of the new drugs came new challenges: the need for intense supportive care and the exorbitant cost of the drugs. A long-term global plan for the equitable distribution of these drugs-that are beyond doubt beneficial to improve motor power in children with SMA-is the need of the hour.