手指伸展无力和下跳性眼球震颤运动神经元病综合征：一种新型运动神经元疾病？
Finger extension weakness and downbeat nystagmus motor neuron disease syndrome: A novel motor neuron disorder?
作者信息
Delva Aline, Thakore Nimish, Pioro Erik P, Poesen Koen, Saunders-Pullman Rachel, Meijer Inge A, Rucker Janet C, Kissel John T, Van Damme Philip
机构信息
Department of Neurology, University Hospitals Leuven, Campus Gasthuisberg, Herestraat 49, 3000, Leuven, Belgium.
Department of Neurology, Cleveland Clinic Foundation, Cleveland, Ohio, USA.
出版信息
Muscle Nerve. 2017 Dec;56(6):1164-1168. doi: 10.1002/mus.25669. Epub 2017 May 15.
INTRODUCTION
Disturbances of eye movements are infrequently encountered in motor neuron diseases (MNDs) or motor neuropathies, and there is no known syndrome that combines progressive muscle weakness with downbeat nystagmus.
METHODS
To describe the core clinical features of a syndrome of MND associated with downbeat nystagmus, clinical features were collected from 6 patients.
RESULTS
All patients had slowly progressive muscle weakness and wasting in combination with downbeat nystagmus, which was clinically most obvious in downward and lateral gaze. Onset was in the second to fourth decade with finger extension weakness, progressing to other distal and sometimes more proximal muscles. Visual complaints were not always present. Electrodiagnostic testing showed signs of regional motor axonal loss in all patients.
DISCUSSION
The etiology of this syndrome remains elusive. Because finger extension weakness and downbeat nystagmus are the discriminating clinical features of this MND, we propose the name FEWDON-MND syndrome. Muscle Nerve 56: 1164-1168, 2017.
引言
眼球运动障碍在运动神经元病（MNDs）或运动神经病中并不常见，目前尚无已知综合征将进行性肌肉无力与下跳性眼球震颤相结合。
方法
为描述与下跳性眼球震颤相关的MND综合征的核心临床特征，收集了6例患者的临床特征。
结果
所有患者均有缓慢进行性肌肉无力和萎缩，并伴有下跳性眼球震颤，在向下和向外侧注视时临床上最为明显。发病年龄在第二至第四个十年，以手指伸展无力起病，逐渐发展至其他远端肌肉，有时也累及近端肌肉。并非所有患者都有视觉症状。电诊断测试显示所有患者均有局部运动轴突丢失的迹象。
讨论
该综合征的病因仍不明确。由于手指伸展无力和下跳性眼球震颤是这种MND的鉴别性临床特征，我们提出将其命名为FEwDON-MND综合征。《肌肉与神经》56: 1164 - 1168, 2017年。
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