Authors : Mahendra Dwivedi, Akansha Mishra, Manali Singh, Nagendra Singh, Anshu Tripathi, Chandra Pratap Singh
DOI : 10.18231/j.ijcaap.2023.003
Volume : 8
Issue : 1
Year : 2023
Page No : 22-26
Spinal muscular atrophy is an inherited neurodegenerative illness characterized by muscle wasting and loss of spinal cord motor neurons. It results from homozygous loss, translation, or mutation of the survival motor neuron 1 (SMN1) gene. Despite the lack of a cure, research has revealed potential processes explaining the disease’s molecular etiology. The SMN1 gene region’s distinctive genomic structure has been used to design treatment plans. Several stages of development have been recognized for a number of possible therapeutic agents. The standard of treatment for people having spinal muscular atrophy has evolved as a result of these and other healthcare technological advancements. In this review, we provide a comprehensive review of general introduction, types, symptoms, causes, diagnosis, and possible management of spinal muscular atrophy (SMA)..
Keywords: Spinal muscular atrophy, Inherited, Muscle biopsy, Mutation, Electrodiagnosis