Royal Victoria Infirmary, Department of Neurology, Newcastle upon Tyne, United Kingdom; Institute of Translational and Clinical Research, University of Newcastle, Newcastle upon Tyne, United Kingdom.
Westmead Hospital, Neurology Department, Sydney, Australia; Brain and Nerve Research Centre, Concord Clinical School, Sydney Medical School, The University of Sydney, Sydney, Australia.
Clin Neurophysiol. 2022 Aug;140:228-238. doi: 10.1016/j.clinph.2022.04.020. Epub 2022 May 10.
To determine the electrodiagnostic characteristics of facial onset sensory and motor neuronopathy (FOSMN).
Electrophysiological data from 10 FOSMN patients in Newcastle-upon-Tyne and Sydney were reviewed. Relevant literature was reviewed.
Findings on standard electrophysiological assessment were in broad agreement with those published: blink reflexes were abnormal in all but one patient; sensory nerve action potentials were reduced but compound muscle action potentials preserved; mixed acute and chronic neurogenic change was identified on needle electromyography in bulbar and cervico-thoracic muscles in approximately 50% of patients. Upper limb somatosensory evoked potential (SEP) central conduction times were increased (n = 4) and progressed on repeat testing (n = 3). Upper motor neuron dysfunction was revealed by several measures [ipsilateral motor evoked potentials (MEPs) (n = 1); reduced short interval intra-cortical inhibition on threshold-tracking transcranial magnetic stimulation (n = 2); absent beta-band intermuscular coherence (n = 3)].
Electrodiagnostic investigation of FOSMN should include blink reflex testing, SEPs and tests of upper motor neuron function. The combination of progressive lower motor neuron disease and upper motor neuron disease on neurophysiological investigation provides further support for the contention that FOSMN is a rare variant of motor neurone disease.
These findings will aid the neurologist and neurophysiologist in making a confident diagnosis of FOSMN, thus expediting appropriate care.
确定面部起始感觉运动神经元病（FOSMN）的电诊断特征。
回顾了纽卡斯尔和悉尼的 10 名 FOSMN 患者的电生理数据。回顾了相关文献。
标准电生理评估的结果与已发表的结果基本一致：眨眼反射异常，但仅有 1 例患者异常；感觉神经动作电位降低，但复合肌肉动作电位保留；在大约 50%的患者中，在球部和颈胸肌的针电极肌电图上发现混合急性和慢性神经源性改变。上肢体感诱发电位（SEP）中枢传导时间延长（n=4），并在重复测试中进展（n=3）。通过几种措施揭示了上运动神经元功能障碍[对侧运动诱发电位（MEPs）（n=1）；阈值追踪经颅磁刺激的短间隔内皮质抑制减少（n=2）；β 波段肌间相干性缺失（n=3）]。
FOSMN 的电诊断检查应包括眨眼反射测试、SEP 和上运动神经元功能测试。神经生理学研究中进行性下运动神经元病和上运动神经元病的结合，进一步支持 FOSMN 是运动神经元病的一种罕见变异的观点。
这些发现将有助于神经病学家和神经生理学家对 FOSMN 做出明确的诊断，从而加快适当的治疗。
