RT Book, Section A1 Panozzo, Cristina A1 Frugier, Tony A1 Cifuentes-Diaz, Carmen A1 Melki, Judith A2 Valle, David L. A2 Antonarakis, Stylianos A2 Ballabio, Andrea A2 Beaudet, Arthur L. A2 Mitchell, Grant A. SR Print(0) ID 1181479769 T1 Spinal Muscular Atrophy T2 The Online Metabolic and Molecular Bases of Inherited Disease YR 2019 FD 2019 PB McGraw-Hill Education PP New York, NY SN 9780071459969 LK ommbid.mhmedical.com/content.aspx?aid=1181479769 RD 2024/11/10 AB Spinal muscular atrophies (SMA) are characterized by degeneration of lower motor neurons and occasionally bulbar motor neurons leading to progressive limb and trunk paralysis associated with muscular atrophy. Childhood SMA is a frequent recessive autosomal disorder and represents a common genetic cause of death in childhood. A positional cloning strategy allowed the localization and the identification of the survival of motor neuron gene (SMN). These developments have greatly improved the clinical management and family planning options of SMA patients and their parents. Furthermore, the presence or the absence of a SMN gene defect contributed to a better nosology of SMA-related diseases. The last 10 years saw major advances in the field of SMA. The function of the SMN gene product has been, at least partly, elucidated, and mouse models of SMA have been created. These advances represent starting points for designing therapeutic strategies of this devastating neurodegenerative disease for which no curative treatment is known so far.