Solving the SMA Puzzle - Hebgg

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Résumé :
The author of this book has been profoundly affected by a little known disease that is a devastating baby killer. On December 24, 1997, the most severe form of spinal muscular atrophy took the life of his niece Alyssa Milliken. Now, ten years later, he and his family face the prospect of losing their daughter Cassandra to the same incurable disease. An assortment of machines, vigilance and the grace of God stay the course of Cassandra's disease while the race for a cure continues. SMA results in severely diminished output of a protein called Survival of Motor Neuron (SMN) protein. Without this protein, muscle controlling motor neurons die, rendering its young victims paralyzed and too weak to breathe. Death usually results within six months due to respiratory complications. In the past decade, technology has rapidly advanced and hope is on the horizon. Doctors and researchers have focused their primary efforts on increasing the amount SMN protein to halt motor neuron death. This book takes an in-depth and comprehensible approach to understanding this complicated disease with a thorough discussion of SMN protein upregulation methodology and its efficacy.