Tunc Sinem, Brüggemann Norbert, Baaske Magdalena K, Hartmann Corinna, Grütz Karen, Westenberger Ana, Klein Christine, Münchau Alexander, Bäumer Tobias
Institute of Neurogenetics, University of Lübeck, Germany; Department of Neurology, University of Lübeck, Germany.
Institute of Neurogenetics, University of Lübeck, Germany.
Parkinsonism Relat Disord. 2017 Jul;40:73-75. doi: 10.1016/j.parkreldis.2017.04.013. Epub 2017 Apr 20.
A clinical feature in patients with ADCY5 gene mutations are perioral muscle twitches initially described as facial myokymia.
Five patients with ADCY5-associated disease with facial twitches and truncal jerks underwent electrophysiological investigations of the orbicularis oris and trapezius muscles to delineate neurophysiological characteristics of these phenomena.
Electromyography (EMG) recordings showed a complex electrophysiological pattern with brief bursts of less than 100 ms and longer bursts with a duration of 100-300 ms up to several seconds in keeping with myoclonus and chorea, respectively, as key findings. None of the patients had EMG patterns of myokymia.
In this series of five ADCY5 mutation carriers, perioral twitches and truncal jerks do not represent myokymia. In view of characteristic clinical signs and electrophysiological patterns with a combination of myoclonus and chorea it might be preferable to refer to these phenomena as myoclonus-chorea.
ADCY5基因突变患者的一个临床特征是口周肌肉抽搐，最初被描述为面部肌束震颤。
对5例患有ADCY5相关疾病且伴有面部抽搐和躯干抽搐的患者进行口轮匝肌和斜方肌的电生理检查，以明确这些现象的神经生理特征。
肌电图（EMG）记录显示出一种复杂的电生理模式，有持续时间小于100毫秒的短暂爆发以及持续时间为100 - 300毫秒直至数秒的较长爆发，分别符合肌阵挛和舞蹈病的关键表现。所有患者均无肌束震颤的EMG模式。
在这5例ADCY5突变携带者中，口周抽搐和躯干抽搐并不代表肌束震颤。鉴于其具有肌阵挛和舞蹈病相结合的特征性临床体征和电生理模式，将这些现象称为肌阵挛 - 舞蹈病可能更为合适。
