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Neuromuscular Diseases of the Newborn.
Seminars in Pediatric Neurology ( IF 2.7 ) Pub Date : 2019-09-05 , DOI: 10.1016/j.spen.2019.08.007
Alex J Fay 1
Affiliation  

The peripheral nervous system (PNS) is composed of motor neurons, nerve roots, plexuses, peripheral nerves (motor, sensory and autonomic), neuromuscular junction, and skeletal muscles. Disorders of the PNS in neonates most frequently cause weakness, hypotonia, and contractures, which may be generalized or focal. Since these findings may also occur with brain and spinal cord lesions, key features of the history and neurologic exam, together with diagnostic testing, are helpful in reaching a diagnosis. This review covers the diagnostic approach to PNS disorders in the neonate and includes a discussion of representative diseases of the motor neuron, brachial plexus, peripheral nerves, neuromuscular junction, and muscles. The importance of reaching a precise genetic diagnosis is highlighted with a discussion of current and emerging treatments for neonatal PNS diseases, particularly spinal muscular atrophy.



中文翻译:

新生儿神经肌肉疾病。

周围神经系统(PNS)由运动神经元,神经根,神经丛,周围神经(运动神经,感觉神经和自主神经),神经肌肉接头和骨骼肌组成。新生儿PNS紊乱最常导致无力,肌张力低下和挛缩,这可能是普遍性或局灶性的。由于这些发现也可能发生在脑和脊髓病变中,因此病史和神经系统检查的主要特征以及诊断测试有助于诊断。这篇综述涵盖了新生儿PNS疾病的诊断方法,并讨论了运动神经元,臂丛,周围神经,神经肌肉接头和肌肉的代表性疾病。

更新日期:2019-09-05
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