Spinal muscular atrophy is a monogenic, progressive motor neuron disorder caused by deletion or mutation in the SMN1 gene. A broad range of phenotypic severity, from very weak infants (Type 1) to ambulant children (type 3), is modified mainly by the number of copies of the "backup" SMN2 gene. In May 17, 2017, Eduardo F.Tizzano and others published an article in << Neuromuscular Disorders>> which title is “Spinal muscular atrophy: A changing phenotype beyond the clinical trials”. Development of clinical outcome measures, natural history studies and standard of care guidelines have contributed to the development of protocols for therapeutic drugs now under clinical investigation. This perspective review discusses potential new trajectories in the phenotype of SMA and the need for multidisciplinary teams to prepare for this changing landscape.
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