Rare diseases form the bulk of the financial expenditure of any developing or developed economy. Among the various rare diseases, paediatric neuromuscular disorders form a major portion, with a worldwide survey estimating a prevalence of 1 in 3500 individuals. In a lower middle-income country (LMIC) like India, malnutrition still accounts for most of the under-5 mortality. However, the economic burden of rare paediatric neuromuscular disorders cannot be underestimated. The treating physician should have a basic understanding of how to approach a child presenting with weakness and how to utilise the available tests which are affordable in an LMIC setting. History and examination still form the core, and with new diagnostic methods like next-generation sequencing, more and more rare disorders are getting diagnosed. It is important for the treating physician to know about basic supportive care, recent advancements, and available treatment options for these conditions. With exciting new treatment options being available for these disorders, the perception of these diseases as being not treatable is gradually changing. This review aims to be of guidance to clinicians from an LMIC setting like India and to empower them to manage such rare paediatric neuromuscular disorders.

罕见疾病占任何发展中或发达经济体财政支出的大部分。在各种罕见疾病中，小儿神经肌肉疾病占了很大一部分，一项全球调查估计，每 3500 人中就有 1 人患有这种疾病。在印度这样的中低收入国家 (LMIC)，营养不良仍然是 5 岁以下儿童死亡率的主要原因。然而，罕见儿童神经肌肉疾病的经济负担不可低估。治疗医生应该对如何处理出现虚弱的儿童以及如何利用中低收入国家可以负担得起的可用测试有基本的了解。病史和检查仍然是核心，并且通过下一代测序等新的诊断方法，越来越多的罕见疾病得到诊断。对于治疗医生来说，了解这些疾病的基本支​​持护理、最新进展以及可用的治疗方案非常重要。随着针对这些疾病的令人兴奋的新治疗方案的出现，人们对这些疾病无法治疗的看法正在逐渐改变。本综述旨在为印度等中低收入国家的临床医生提供指导，帮助他们治疗此类罕见的儿科神经肌肉疾病。