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| 題 名 | Autosomal Dominant Myotonia Congenita in a Taiwanese Family and Beneficial Response to Mexiletine=自體顯性遺傳先天性肌強直症:一臺灣家族研究和對藥物Mexiletine之效果評估 |
|---|---|
| 作 者 | 郭弘周; 黃錦章; 朱俊哲; 江淑雅; 蕭光明; | 書刊名 | Acta Neurologica Taiwanica |
| 卷 期 | 12:3 2003.09[民92.09] |
| 頁 次 | 頁130-135 |
| 分類號 | 415.9413 |
| 關鍵詞 | 自體顯性遺傳; 先天性肌強直症; Autosomal dominant myotonia congenita; Thomsen's disease; Therapeutic response; Mexiletine; |
| 語 文 | 英文(English) |
| 英文摘要 | Autosomal dominant myotonia congenita (ADMC) known as Thomsen's disease is one of autosomal dominant myotonic syndromes. The incidence of ADMC is rare and the effect of treatment and prognosis are different from those in myotonic dystrophy type 1 (DM1). The ADMC can be differentiated from DM1 by clinical features and a genetic test. Therefore, the diagnosis and treatment in ADMC are important. We identify a case of ADMC who were misdiagnosed as DM1 9 years ago. After a detailed clinical investigation and molecular genetic studies, DM1 was ruled out. We herein report the clinical features of ADMC in a Taiwanese family. The 3 probands experienced walking difficulties in their daily activities related to myotonia and slow relaxation. Two probands received mexiletine treatment and showed a marked improvement according to the questionnaires for subjective evaluation and objective tests including eyelid contraction, hand grasping, and walking upstairs and downstairs. We conclude that the diagnosis of ADMC can be differentiated from other hereditary myotonic disorders by a careful evaluation and molecular genetic studies. In addition, mexiletine therapy is effective and safe in the treatment of ADMC. |
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