Mercuri Eugenio, Pera Maria Carmela, Brogna Claudia
Department of Pediatric Neurology, Catholic University, Rome, Italy.
Department of Pediatric Neurology, Catholic University, Rome, Italy.
Handb Clin Neurol. 2019;162:435-448. doi: 10.1016/B978-0-444-64029-1.00021-7.
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.
新生儿肌张力减退的鉴别诊断是一项复杂的任务，因为在新生儿中，肌张力减退可能是不同潜在病因的表现症状，包括外周和中枢神经系统受累以及遗传和代谢性疾病。本章描述了基于临床体征与新的基因技术相结合的综合方法如何不仅有助于确定肌张力减退何时与外周受累有关，还能实现对新生儿期发病的特定神经肌肉疾病的准确早期诊断。尽早识别这些疾病很重要，因为这能使针对特定疾病的护理标准得以早期干预，更重要的是，因为有可能用最近可用的治疗方法治疗其中一些疾病，如脊髓性肌萎缩症。
