模仿肌病的神经肌肉接头疾病。
Neuromuscular junction disorders mimicking myopathy.
作者信息
Mongiovi Phillip C, Elsheikh Bakri, Lawson Victoria H, Kissel John T, Arnold W David
机构信息
The Ohio State University College of Medicine, Columbus, Ohio, USA.
出版信息
Muscle Nerve. 2014 Nov;50(5):854-6. doi: 10.1002/mus.24300. Epub 2014 Sep 24.
INTRODUCTION
Small-amplitude, short-duration motor unit action potentials are non-specific findings seen in myopathies and neuromuscular junction (NMJ) disorders. NMJ studies (repetitive nerve stimulation and single-fiber electromyography) can determine if such findings are related to NMJ abnormalities but are not considered routinely in atypical cases.
METHODS
Medical records of 338 patients with confirmed NMJ disorders were reviewed to identify cases with a clinical or electrodiagnostic impression of myopathy during initial evaluation. A history of muscle biopsy with findings that did not support a myopathic process was required for inclusion.
RESULTS
Four patients met the inclusion criteria. NMJ studies were abnormal in all cases. One patient had elevated acetylcholine receptor antibodies. Three patients were antibody negative: 2 demonstrated immunotherapy responsiveness, and 1 had a Rapsyn mutation.
CONCLUSIONS
NMJ disorders may mimic myopathies, and NMJ studies should be performed to clarify so-called "myopathic" electromyographic findings to avoid unnecessary testing and delayed diagnosis.
引言
小幅度、短持续时间的运动单位动作电位是在肌病和神经肌肉接头（NMJ）疾病中出现的非特异性表现。NMJ检查（重复神经刺激和单纤维肌电图）可以确定这些表现是否与NMJ异常有关，但在非典型病例中通常不进行常规检查。
方法
回顾了338例确诊为NMJ疾病患者的病历，以确定在初次评估时有临床或电诊断印象为肌病的病例。纳入标准要求有肌肉活检病史且活检结果不支持肌病过程。
结果
4例患者符合纳入标准。所有病例的NMJ检查均异常。1例患者乙酰胆碱受体抗体升高。3例患者抗体阴性：2例显示免疫治疗有反应，1例有Rapsyn突变。
结论
NMJ疾病可能会模仿肌病，应进行NMJ检查以明确所谓的“肌病性”肌电图表现，避免不必要的检查和延迟诊断。
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