Myotonia congenita - a cause of muscle weakness and stiffness

被引：14

作者：

Chrestian, Nicolas ^{[1
]}

Puymirat, Jack ^{[1
]}

Bouchard, Jean-Pierre ^{[1
]}

Dupre, Nicolas ^{[1
]}

机构：

[1] Univ Laval, Dept Neurol Sci, CHAUQ Enfant Jesus, Quebec City, PQ G1J 1Z4, Canada

来源：

NATURE CLINICAL PRACTICE NEUROLOGY | 2006年 / 2卷 / 07期

关键词：

chloride channel; dystrophic myotonia; electrophysiology; genetic testing; myotonia congenita;

D O I：

10.1038/ncpneuro0239

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：393 / 399

页数：7

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