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肌强直性营养不良的诊断与治疗。

The diagnosis and treatment of myotonic disorders.

机构信息

Department of Neurology, Box 673, University of Rochester Medical Center, 601 Elmwood Avenue, Rochester, New York, New York 14642, USA.

出版信息

Muscle Nerve. 2013 May;47(5):632-48. doi: 10.1002/mus.23683. Epub 2013 Mar 27.

Abstract

Myotonia is a defining clinical symptom and sign common to a relatively small group of muscle diseases, including the myotonic dystrophies and the nondystrophic myotonic disorders. Myotonia can be observed on clinical examination, as can its electrical correlate, myotonic discharges, on electrodiagnostic testing. Research interest in the myotonic disorders continues to expand rapidly, which justifies a review of the scientific bases, clinical manifestations, and numerous therapeutic approaches associated with these disorders. We review the pathomechanisms of myotonia, the clinical features of the dystrophic and nondystrophic myotonic disorders, and the diagnostic approach and treatment options for patients with symptomatic myotonia.

摘要

肌强直是一组相对较小的肌肉疾病的特征性临床症状和体征,包括肌强直营养不良症和非肌强直肌病。肌强直可以在临床检查中观察到,其电相关表现,即肌强直放电,也可以在电诊断测试中观察到。人们对肌强直疾病的研究兴趣继续迅速扩大,这证明有必要对这些疾病的科学基础、临床表现和许多治疗方法进行回顾。我们回顾了肌强直的病理机制、肌强直营养不良症和非肌强直肌病的临床特征,以及有症状肌强直患者的诊断方法和治疗选择。

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