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Abstract：
The differential diagnosis of neonatal hypotonia is a complex task, as in newborns hypotonia can be the presenting sign of different underlying causes, including peripheral and central nervous system involvement and genetic and metabolic diseases. This chapter describes how a combined approach, based on the combination of clinical signs and new genetic techniques, can help not only to establish when the hypotonia is related to peripheral involvement but also to achieve an accurate and early diagnosis of the specific neuromuscular diseases with neonatal onset. The early identification of such disorders is important, as this allows early intervention with disease-specific standards of care and, more importantly, because of the possibility to treat some of them, such as spinal muscular atrophy, with therapeutic approaches that have recently become available.
摘要：
新生儿低张力的鉴别诊断是一项复杂的任务,就像新生儿的低张力可能是不同根本原因的表现，包括外周和中枢神经系统受累以及遗传和代谢疾病。本章描述了一种组合方法，基于临床体征和新的遗传技术的结合，不仅可以帮助确定何时张力减退与周围受累有关，还可以帮助对新生儿发作的特定神经肌肉疾病进行准确和早期的诊断。早期识别这种疾病很重要，因为这允许早期干预特定疾病的护理标准，更重要的是,因为有可能治疗其中一些，比如脊髓性肌萎缩症，与最近可用的治疗方法。
