ABSTRACT
Spinal muscular atrophy is one of the deadliest genetic diseases involving motor neuron degeneration further resulting into degeneration of motor functions and muscle. The clinical severity of this deadly disease depends directly on the number of SMN2 Gene copies in the individual having the disease, having various stages and severity profile and physical characteristics also. It can be varied from an extreme weakness and inability to move and sit in infancy to a mild condition of weakness and physical incapability in adulthood. The natural course of the disease is quite complex and variable and so, the clinicians divide the patients based on their phenotypic characteristics, physical ability based on motor functions into 4clinical subgroups (SMA Type I, Type II, Type III, Type IV) that have been well defined. In this paper we will be discussing the phenotypes of SMA followed by molecular genetics and aetiology and finally approved therapies and complementary approaches beyond basic therapies in different phases or states with overall objective of compiling important information at one platform.
