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| 題 名 | 恰克-馬利-杜斯氏症--個案報告=A Case Report on Charcot-Marie-Tooth Disease |
|---|---|
| 作 者 | 陳建志; 陳登郎; 張馨丰; | 書刊名 | 臺灣老年醫學暨老年學雜誌 |
| 卷 期 | 10:1 2015.02[民104.02] |
| 頁 次 | 頁54-61 |
| 分類號 | 417.7827 |
| 關鍵詞 | 遺傳性運動感覺神經病變; 恰克-馬利-杜斯氏症; 高足弓; 脫髓鞘型神經病變; 牽線木偶步態; Hereditary motor sensory neuropathy; Charcot-Marie-Tooth disease; Pes cavus; Demyelinating neuropathy; Marionette gait; |
| 語 文 | 中文(Chinese) |
| 中文摘要 | 恰克-馬利-杜斯氏症其實就是遺傳性運動感覺神經病變,是最常見的遺傳性周 邊神經病變。一65歲男性,苦於兩側下肢肌肉萎縮合併步行障礙已經10年,兩側上 肢肌肉萎縮合併書寫障礙已經1年。兩側腳掌呈現高足弓,腳趾屈曲成槌狀趾,呈 現爪足樣,胸部攝片顯示胸部脊柱側彎,神經傳導電位檢查顯示兩側正中、尺及橈 神經之運動神經傳導速度顯著變慢。往後兩年,患者四肢更加萎縮無力,生活已無 法自理。診斷為恰克-馬利-杜斯氏症,家族圖顯示為自體顯性遺傳。若於老年患者 診斷出恰克-馬利-杜斯氏症來,固然已無扭轉殘障或減輕失能的契機,但可對其家 族成員進行基因檢測與遺傳諮詢,畢竟早期確診可使其患病家族成員有機會及早修 飾生活型態,期能減少周邊神經的傷害,延緩殘障的發生。 |
| 英文摘要 | Charcot-Marie-Tooth disease (CMT), also known as hereditary motor sensory neuropathy, is the most common form of hereditary peripheral neuropathy. A 65-year-old man has presented with bilateral lower limbs’ muscular atrophy with walking difficulty for 10 years and bilateral upper limbs’ muscular atrophy with writing difficulty for one year. Both of his feet presented with high arches (pes cavus), hammertoes, and pied en griffe. Chest-X ray indicated thoracic scoliosis. Motor nerve conduction velocities were markedly slow at bilateral median, ulnar and radial nerves. Over the following two years, his four limbs grew increasingly atrophic and weak to the extent that he needed to live dependently. He was diagnosed with CMT. The family tree demonstrated that the disease had autosomal dominant heredity. It is usually too late to reverse or relieve the disability if an aged person is diagnosed with CMT; however, genetic counseling should be recommended for the patient’s family members to help them seize the opportunities to modify lifestyle as early as possible, to alleviate the resultant peripheral nerve injury, and to delay the unavoidable disability. |
本系統中英文摘要資訊取自各篇刊載內容。