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Spinal Muscular Atrophy

2015; Elsevier BV; Volume: 33; Issue: 4 Linguagem: Inglês

10.1016/j.ncl.2015.07.004

1557-9875

Stephen J. Kolb, John T. Kissel,

Congenital Anomalies and Fetal Surgery

Spinal muscular atrophy is an autosomal-recessive disorder characterized by degeneration of motor neurons in the spinal cord and caused by mutations in the survival motor neuron 1 gene, SMN1. The severity of SMA is variable. The SMN2 gene produces a fraction of the SMN messenger RNA (mRNA) transcript produced by the SMN1 gene. There is an inverse correlation between SMN2 gene copy number and clinical severity. Clinical management focuses on multidisciplinary care. Preclinical models of SMA have led to an explosion of SMA clinical trials that hold great promise of effective therapy in the future.