Myotonia congenita - a cause of muscle weakness and stiffness
Myotonia congenita - a cause of muscle weakness and stiffness
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DOI：
10.1038/ncpneuro0239
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发表时间：
2006-07-01
期刊：
影响因子：
--
通讯作者：
Dupre, Nicolas
中科院分区：
文献类型：
--
作者：
Chrestian, Nicolas;Puymirat, Jack;Dupre, Nicolas
背景 一名 56 岁女性因有僵硬和短暂无力病史被转诊至神经遗传学诊所。先前的针肌电图证实存在肌强直，但肌肉活检未发现营养不良的证据。调查神经学检查、电生理学研究和基因检测。诊断隐性先天性肌强直（贝克尔氏病）。管理解释疾病的性质和美西律 200 毫克每天两次的治疗。
Background A 56-year-old woman was referred to a neurogenetic clinic with a history of stiffness and transient weakness. A previous needle electromyogram had confirmed the presence of myotonia, but a muscle biopsy had revealed no evidence of dystrophy.Investigations Neurological examination, electrophysiological studies and genetic testing.Diagnosis Recessive myotonia congenita ( Becker's disease).Management Explanation of the nature of the disease and treatment with mexiletine 200 mg twice daily.