Various movement disorders in a patient with Sjögren syndrome
Various movement disorders in a patient with Sjögren syndrome
复制标题
干燥综合征患者的各种运动障碍
DOI：
10.1002/mds.22346
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发表时间：
2009
影响因子：
8.6
通讯作者：
Pang‐Ying Shih
中科院分区：
文献类型：
--
作者：
Yang‐Pei Chang;Pang‐Ying Shih
天才痉挛 (OMIM 190100) 的特点是颏肌自发性重复性不自主收缩，导致下巴颤抖或颤抖，这种颤抖或颤抖会因压力或焦虑而加剧。这些运动在婴儿期或儿童期首次被注意到，通常在成年后期减弱。尽管颌骨痉挛是一种良性疾病，但其动作会导致尴尬和严重的社交焦虑。颏痉挛运动的疾病分类已被不同地描述为肌颤、震颤和肌阵挛，但其起源仍不清楚。 3 本报告检查了颏痉挛患者的颏肌活动和面神经兴奋性。一名 42 岁的男子来自澳大利亚一个四代家庭，该家庭有六名患有智力痉挛的成员。他从小就意识到下巴半连续地颤抖。神经系统检查显示双侧下巴连续、半节律性颤动。没有面部无力。药物和左下周围面神经手术对动作没有影响。每 8 至 10 个月注射一次肉毒杆菌毒素（Botox、Allergan）（每块颏肌 30 单位）即可消除这种运动。使用多通道肌电图 (EMG) 系统 (Nicolet Viking III, Madison, WI) 上的针和表面电极记录双侧颏肌和眼轮匝肌 (OO) 的肌肉活动。眶上神经 (SON) 在眶上沟中受到感觉阈值三到五倍的刺激，并从 OO 和颏肌的表面电极记录反应。通过目视检查来测量响应延迟。记录同侧颏肌对耳屏面神经刺激的反应。引起颏痉挛的颏肌活动包括正常形态的短暂运动单位动作电位，持续时间为 10 至 12 毫秒，振幅为 50 至 100 IV，以每秒 5 至 8 次的速度无节律地放电。双方都参与其中。未见肌颤的高频放电或分组放电。自主收缩产生正常的募集模式，从而中断了颌骨痉挛。刺激耳屏处的面神经会引起正常形态和潜伏期的颏突反应（无晚期反应）。刺激 SON 会引起面部肌肉的一系列反射反应。从双侧 OO 记录正常出现的眨眼反射（R1 和 R2）（未显示）。从两个心智记录对应于 R1、R2 和 R3 的响应（图 1）。针 EMG 证实对应于 R2 和 R3 的反应是双侧的，但 R1 反应变化更大，并且大部分是单侧的（颏的解剖结构允许表面 EMG 记录来获取肌肉两侧的活动）。在高刺激强度的正常受试者和由于面神经再生异常而导致联带运动的患者中，R2 反应会扩散到 OO 肌肉之外。这表明在颏痉挛中，R2 和 R3 对颏的反应的扩散表明面部核过度兴奋。该患者的颏痉挛特征与之前描述的相似，3 包括图 1 的扩散。 1. 刺激眶上神经 (SON) 后，矫正后的颏肌表面肌电图记录（每条迹线代表 10 次试验的平均值）。单侧 SON 刺激在潜伏期 14 毫秒（对应于眨眼反射的 R1 反应）诱发了心智反应，并在 42 毫秒（对应于眨眼反射的 R2 反应）和 90 毫秒（对应于眨眼反射的 R3 反应）时诱发了双侧反应。面部肌肉活动的程度表明面部核过度兴奋。
Geniospasm (OMIM 190100) is characterized by spontaneous repetitive involuntary contraction of mentalis muscles resulting in quivering or trembling of the chin that is intensified by stress or anxiety. The movements are first noticed in infancy or childhood and usually abate by late adulthood. Although geniospasm is a benign disorder the movements cause embarrassment and significant social anxiety. The nosology of the movements of geniospasm has been variously described as myokymia, tremor, and myoclonus but their origin remains unclear. 3 This report examines mentalis activity and facial nerve excitability in a patient with geniospasm. A 42-year-old man from a four generation Australian family with six affected members with geniospasm was studied. He had been aware of semicontinuous chin quivering since childhood. Neurological examination revealed bilateral continuous, semirhythmic chin quivering. There was no facial weakness. Drugs and left lower peripheral facial nerve surgery had no effect on the movements. Botulinum toxin (Botox, Allergan) injections (30 units in each mentalis muscle) every 8 to 10 months abolished the movements. Muscle activity was recorded from bilateral mentalis and orbicularis oculi (OO) muscles using needle and surface electrodes on a multichannel electromyography (EMG) system (Nicolet Viking III, Madison, WI). The supraorbital nerves (SON) were stimulated in the supraorbital groove at three to five times the sensory threshold and responses recorded from surface electrodes over both OO and mentalis muscles. Response latency was measured by visual inspection. Responses to facial nerve stimulation at the tragus were recorded in ipsilateral mentalis muscles. The mentalis muscle activity responsible for geniospasm comprised brief motor unit action potentials of normal morphology, 10 to 12 milliseconds duration and amplitude 50 to 100 lV, discharging arrhythmically at five to eight per second. Both sides were involved. There were no high frequency discharges or grouped discharges of myokymia. Voluntary contraction produced normal recruitment pattern that interrupted geniospasm. Stimulation of the facial nerves at the tragus evoked mentalis responses of normal morphology and latency (without late responses). Stimulation of the SON evoked a series of reflex responses in the facial muscles. Normal appearing blink reflexes (R1 and R2) were recorded from bilateral OO (not shown). Responses corresponding to R1, R2, and R3 were recorded from both mentalis (Fig. 1). Needle EMG confirmed the responses corresponding to the R2 and R3 were bilateral but R1 responses were more variable and largely unilateral (the anatomy of mentalis allowed surface EMG recording to pick up activity from both sides of the muscle). Spread of R2 responses beyond OO muscles is described in normal subjects with high stimulus intensities and in patients with synkinesis because of aberrant facial nerve regeneration. It is suggested in geniospasm spread of R2 and R3 responses to mentalis indicates facial nuclear hyperexcitability. The characteristics of geniospasm in this patient were similar to those described previously, 3 including spread of FIG. 1. Rectified surface EMG recordings from the mentalis muscles following stimulation of the supraorbital nerves (SON) (each trace represents the average of 10 trials). Unilateral SON stimulation evoked mentalis responses at latency 14 milliseconds corresponding to the R1 response of the blink reflex and bilateral responses at 42 milliseconds (corresponding to the R2 response of the blink reflex) and 90 milliseconds (corresponding to the R3 response of the blink reflex). The extent of facial muscle activity suggests facial nuclear hyperexcitability.