The major advances in genetic neuromuscular disorders in the last 30 years have been: (a) identification of the genetic basis for hundreds of these disorders, (b) through knowing the genes, understanding their pathobiology and (c) subsequent implementation of evidence-based treatments for some of the disorders. New genomic technologies are providing precision diagnosis, mode of inheritance and likely prognosis for more patients than ever before. Parents of children with a genetic diagnosis can then use preimplantation or prenatal diagnosis to avoid having further affected children if they wish. But is this the best we can do for genetic neuromuscular disorders? Since the 1980s, it has been argued it would be better to identify Duchenne muscular dystrophy carrier mothers, rather than diagnose their affected sons. Carrier screening for recessive disorders can identify couples with a high chance of having affected children. It allows couples reproductive choice and can prevent infant morbidity and mortality and significant distress for families. Professional bodies in many countries now recommend prospective parents should be informed about carrier screening. Implementing and funding expensive therapies increases the cost-effectiveness of carrier screening, increasing its attractiveness to governments. Best practice for genetic neuromuscular disorders should include equitable access to carrier screening.

在过去 30 年中，遗传性神经肌肉疾病的主要进展是：(a) 确定数百种此类疾病的遗传基础，(b) 通过了解基因、了解其病理生物学和 (c) 随后实施循证医学治疗某些疾病。新的基因组技术正在为比以往更多的患者提供精确诊断、遗传模式和可能的预后。如果他们愿意，遗传诊断儿童的父母可以使用植入前或产前诊断来避免进一步受影响的孩子。但这是我们对遗传性神经肌肉疾病所能做的最好的吗？自 1980 年代以来，人们一直认为，最好识别出杜氏肌营养不良症携带者的母亲，而不是诊断她们患病的儿子。隐性疾病的携带者筛查可以识别出很有可能生育孩子的夫妇。它允许夫妻进行生育选择，并可以防止婴儿发病率和死亡率以及家庭的重大痛苦。许多国家的专业机构现在建议准父母了解携带者筛查。实施和资助昂贵的疗法可以提高携带者筛查的成本效益，增加其对政府的吸引力。遗传性神经肌肉疾病的最佳实践应包括公平获得携带者筛查。许多国家的专业机构现在建议准父母了解携带者筛查。实施和资助昂贵的疗法可以提高携带者筛查的成本效益，增加其对政府的吸引力。遗传性神经肌肉疾病的最佳实践应包括公平获得携带者筛查。许多国家的专业机构现在建议准父母了解携带者筛查。实施和资助昂贵的疗法可以提高携带者筛查的成本效益，增加其对政府的吸引力。遗传性神经肌肉疾病的最佳实践应包括公平获得携带者筛查。