Spinal muscular atrophy (SMA) is a neuromuscular, rare genetic disorder caused due to loss-of-function mutations in the survival motor neuron-1 (SMN1) gene, leading to deficiency of the SMN protein. The severity of the disease phenotype is inversely proportional to the copy number of another gene, SMN2, that differs from SMN1 by a few nucleotides. The current diagnostic methods for SMA include symptom-based diagnosis, biochemical methods like detection of serum creatine kinase, and molecular detection of disease-causing mutations using polymerase chain reaction (PCR), multiplex ligation-dependent probe amplification (MLPA), and exome or next-generation sequencing (NGS). Along with detection of the disease-causing mutation in the SMN1 gene, it is crucial to identify the copy number of the SMN2 gene, which is a disease modifier. Therapeutic options like gene therapy, antisense therapy, and small molecules are available for SMA, but, the costs are prohibitively high. This review discusses the prevalence, diagnosis, available therapeutic options for SMA, and their clinical trials in the Indian context, and highlights the need for measures to make indigenous diagnostic and therapeutic interventions.

脊髓性肌萎缩症 (SMA) 是一种罕见的神经肌肉遗传性疾病，由运动神经元存活基因 1 ( SMN1 )基因功能丧失突变导致 SMN 蛋白缺陷所致。疾病表型的严重程度与另一个基因 SMN2 的拷贝数成反比，该基因与SMN1存在几个核苷酸的差异。目前 SMA 的诊断方法包括基于症状的诊断、生化方法（如检测血清肌酸激酶）以及使用聚合酶链反应（PCR）、多重连接依赖性探针扩增（MLPA）和外显子组或外显子组等对致病突变进行分子检测。下一代测序（NGS）。除了检测SMN1基因中的致病突变外，确定SMN2基因（疾病修饰因子）的拷贝数也至关重要。 SMA 可采用基因疗法、反义疗法和小分子疗法等治疗方案，但成本高昂。这篇综述讨论了 SMA 的患病率、诊断、可用的治疗方案及其在印度的临床试验，并强调需要采取措施进行本地诊断和治疗干预。