Abstract

Abstract: The last decades have been marked by a breakthrough in the study of the molecular genetic basis of spinal muscular atrophy, which has significantly improved the diagnosis and treatment of these diseases and served as a platform for the development of innovative therapeutic approaches with the ability to modulate a genetic defect. Given the limited availability of etiotropic methods for the treatment of spinal muscular atrophy, traditional approaches to therapy aimed at the pathophysiological mechanisms of the development and course of the disease retain their proven effectiveness, which, in turn, dictate the need for their improvement and increase in effectiveness. Keywords: spinal muscular atrophy, RHS and MHS scales, electromyography, therapy

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