Review on Spinal Muscular Atrophy

Spinal muscular atrophy (SMA) is the second leading genetic, autosomal recessive disorder with progressive weakness of skeletal and respiratory muscles, leading to progressive paralysis with muscular atrophy, significant disability. SMA predominantly affects on children and represents the most common cause of hereditary infant mortality. Spinal muscular atrophy caused by mutations in the survival motor neuron 1 (SMN1) gene and a consequentdecrease in the SMN protein leading to lower motor neuron degeneration. The clinical features of Spinal muscular atrophy are caused by specific degeneration of a-motor neurons in the spinal cord, leading to muscle weakness, atrophy and, in the majority of cases, premature death. Encouraging results from phase II and III clinical trials have raised hope that other therapeutic options will enter soon in clinical practice. The common genetic etiology and recent progress in pre-clinical models suggest that SMA is well-suited for the development of therapeutic regimens. This review covers the available data and the new challenges of SMA therapeutic strategies.