Bowley Michael P, Chad David A
Department of Neurology, Massachusetts General Hospital, Boston, MA, United States.
Reliant Medical Group and Saint Vincent Hospital, Worcester, MA, United States.
Handb Clin Neurol. 2019;161:241-268. doi: 10.1016/B978-0-444-64142-7.00052-7.
Demyelinating neuropathies are remarkably varied in their clinical characteristics: In etiology they may be inherited or acquired, in their time course, acute or chronic, and in their distribution, multifocal or generalized. They present with phenotypes that range from an indolent disorder that begins in childhood and progresses slowly over decades (as might be seen in an inherited form) and leads to weakness but preserved ambulation, to a neuropathy with fulminant onset and rapid progression culminating in tetraparesis and respiratory failure (as seen in the Guillain-Barre syndrome). Often demyelinating neuropathies are amenable to treatment that greatly reduces the burden of disease and extent of disability. Thus, electrophysiologic studies are critically important as an investigatory tool in the evaluation of patients with suspected demyelinating neuropathies. In this chapter, we focus our discussion on the manifold electrophysiologic details regarding the demyelinating neuropathies and provide the reader with the clinical context and pathophysiological underpinnings to help appreciate the complex character of these disorders, including the Guillain-Barré syndrome; chronic inflammatory demyelinating polyneuropathy and its variants; the dysimmune demyelinating neuropathies that accompany systemic disease such as paraproteinemia, POEMS syndrome, and multifocal motor neuropathy; diabetic neuropathy; the demyelinating inherited polyneuropathies, and the demyelinating neuropathy from toxic exposures.
在病因方面，它们可能是遗传性的或后天获得性的；在病程方面，可为急性或慢性；在分布方面，可为多灶性或全身性的。其表现出的表型范围广泛，从一种始于儿童期、数十年缓慢进展的隐匿性疾病（如遗传性形式所见），导致肌无力但仍能行走，到一种起病急骤、进展迅速，最终导致四肢瘫和呼吸衰竭的神经病（如吉兰 - 巴雷综合征所见）。脱髓鞘性神经病通常可通过治疗大大减轻疾病负担和残疾程度。因此，电生理检查作为评估疑似脱髓鞘性神经病患者的一种检查工具至关重要。在本章中，我们将重点讨论脱髓鞘性神经病的诸多电生理细节，并为读者提供临床背景和病理生理基础，以帮助理解这些疾病的复杂特征，包括吉兰 - 巴雷综合征、慢性炎症性脱髓鞘性多发性神经病及其变异型、伴有系统性疾病（如副蛋白血症、POEMS综合征和多灶性运动神经病）的免疫性脱髓鞘性神经病、糖尿病性神经病、遗传性脱髓鞘性多发性神经病以及中毒性脱髓鞘性神经病。
