Bethlem Myopathy: A Case Report

貝斯蘭氏肌病變發生於體染色體顯性遺傳，呈近端肢體無力分布。它是一種罕見及良性的肌肉病變。臨床上的特性—從孩童時期開始有緩慢漸進性的肢端無力，手部、肘部及膝部收縮無心肌侵犯，並有間斷時期達數十年。我們報告一位二十四歲女性，主訴從十六歲時開始走路困難，無法從椅子或床上坐力和站起。在例行性的神經傳導速度和針極肌電圖檢查發現是一種肌肉病變；然而，血清中的肌胺酸磷酸激活酵素和乳酸去氫酵素是正常的，肌肉切片為非專一性的肌肉病理性變化而沒有缺乏失養蛋白。她的第一個兒子，從六歲時就有右下側肢體無力，合併經常性的跌倒，也被注意到有輕度的肘部緊縮變形和肌肉病理性的肌電圖檢查，在她的母系家族系譜中也發現有肌無力及關節緊縮變形臨床特徵之體染色體廣泛性的差異。

關鍵字

貝斯蘭氏肌病變；失養蛋白；母系家族系譜

並列摘要

Bethlem myopathy occurs in autosomal-dominant inheritance and limb-girdle distribution of weakness. It is a rare and benign myopathy. It is characterized by the following salient clinical features: slow progression of limb-girdle weakness from childhood onward with periods of arrest for several decades; contractures of fingers, elbows and ankles: and absence of cardiac involvement. We presented a 24-year-old woman with complaint of difficulty in walking, sitting and arising from the chair or bed since age of 16. Routine nerve conduction velocity and needle electromyogram revealed a myopathy, however, serum CPK and LDH were normal. Muscle biopsy revealed non-specific myopathic change withoutdystrophin deficiency. Her first son, had right lower limb weakness with frequent falling down episodes since age of 6. Mild elbow contracturewasalso noted. The electromyogram testing had a myopathic change. Wide variety of autosomal-dominance of clinical features of muscle weakness and joint contractures were also found in her maternal-line pedigree.

並列關鍵字

bethlem myopathy ； dystrophin ； maternal-line pedigree

國際替代計量

Bethlem Myopathy: A Case Report

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