EMG Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
Chalmers P. Wylie Veterans Administration, Columbus, Ohio, USA.
Muscle Nerve. 2021 Apr;63(4):516-524. doi: 10.1002/mus.27159. Epub 2021 Jan 19.
Congenital facial weakness (CFW) can result from facial nerve paresis with or without other cranial nerve and systemic involvement, or generalized neuropathic and myopathic disorders. Moebius syndrome is one type of CFW. In this study we explored the utility of electrodiagnostic studies (EDx) in the evaluation of individuals with CFW.
Forty-three subjects enrolled prospectively into a dedicated clinical protocol and had EDx evaluations, including blink reflex and facial and peripheral nerve conduction studies, with optional needle electromyography.
MBS and hereditary congenital facial paresis (HCFP) subjects had low-amplitude cranial nerve 7 responses without other neuropathic or myopathic findings. Carriers of specific pathogenic variants in TUBB3 had, in addition, a generalized sensorimotor axonal polyneuropathy with demyelinating features. Myopathic findings were detected in individuals with Carey-Fineman-Ziter syndrome, myotonic dystrophy, other undefined myopathies, or CFW with arthrogryposis, ophthalmoplegia, and other system involvement.
EDx in CFW subjects can assist in characterizing the underlying pathogenesis, as well as guide diagnosis and genetic counseling.
先天性面肌无力（CFW）可由面神经麻痹伴或不伴其他颅神经和全身受累引起，或由全身性神经病变和肌病引起。Moebius 综合征是 CFW 的一种类型。本研究探讨了电诊断研究（EDx）在评估 CFW 患者中的应用。
43 名受试者前瞻性地纳入一项专门的临床方案，并进行 EDx 评估，包括眨眼反射和面部及周围神经传导研究，以及可选的针电极肌电图。
MBS 和遗传性先天性面肌无力（HCFP）患者的颅神经 7 反应幅度较低，无其他神经病变或肌病表现。携带 TUBB3 特定致病性变异的患者还存在以感觉运动轴突为主的脱髓鞘性多发性神经病。在 Carey-Fineman-Ziter 综合征、肌强直性营养不良症、其他未明确的肌病或伴有关节挛缩、眼肌麻痹和其他系统受累的 CFW 患者中，可检测到肌病表现。
CFW 患者的 EDx 有助于确定潜在的发病机制，并指导诊断和遗传咨询。
