An Overview of Contemporary Phenotypes, Present Challenges, and Novel Implications for Medical Services in the Diagnosis of Spinal Muscular Atrophy

Abstract

Spinal muscular atrophy (SMA) is a form of muscle disease induced by SMN1 gene mutations. It can cause motor neurons and muscle strength to weaken. The intensity of the disease’s progression varies depending on the stage of development. Over the past ten years, new ways to help people with SMA have been found. These include the use of gene therapy and the modification of the SMN2 and SMN1 genes. First drugs approved for this condition were able to significantly alter the course of the disease. However, the evidence that is now available for these novel therapies is frequently constrained to a small range of individuals in terms of age and illness stage. To better understand the impact of treatment on people with all SMA subtypes and to build a platform for clinical decision-making in SMA, it will be necessary to gather real-world data with standardized outcome markers.