An In-Depth Review on Spinal Muscular Atrophy : A Neurodegenerative Disease

Abstract

SMA, or spinal muscular atrophy, is a hereditary condition. This is an inherited recessive motor neuron disorder that is brought on by a missing copy or mutation of SMN1. Generalized muscular weakness and atrophy, primarily in the proximal limb muscles, are the hallmarks of this condition. Its phenotypic is categorized into five severity degrees (SMA-0, SMA-I, SMA-II, SMA-III, SMA-IV) based on the age at which it manifests. The motor neuron 1 (SMN1) gene is the source of homozygous mutations that cause this illness. The majority of patients have homozygous deletions of the SMN1 gene, according to the diagnostic test. Testing should begin with those
who are at risk, and if a positive test result is obtained, the partner should be examined further. It is advised that the management of SMA be appropriately coordinated by a specialist who can organize a multidisciplinary intervention involving pulmonary and nutrition care. The categorization, signs and symptoms, diagnosis, etiology, and therapy of SMA are the main topics of this review..