裘馨型肌肉失養症

Duchenne Muscular Dystrophy

呂怡靜(Yi-Jing Lue)

《物理治療》 26卷1期 (2001/02) Pp. 40-48

摘要

裘馨型肌肉失養症( Duchenne muscular dystrophy)是一種進行性肌肉無力的疾病，是所有肌肉失養症中最嚴重的一型。疾病的病因是由於性聯遺傳的染色體不正常所致，此基因的缺陷會使位於肌肉纖維結構性肌縮蛋白(dystrophin)缺乏，肌肉收縮時若肌縮蛋白缺乏則無法保護肌細胞膜受到破壞。病患肌肉會一再壞死然後又再生，但最後肌細胞損傷嚴重無法恢復，終於失去肌肉的功能，並且肌肉組織被結締組織與脂肪組織所取代。病患在5歲以前就發病，有顯著肌肉無力現象， 當無法行走時長時間坐在輪椅上將導致多處關節都有嚴重的關節攣縮，脊柱側彎也在開始坐輪椅後變得越來越嚴重，最後病人的呼吸肌無力導致死亡。雖然目前醫療的方法還不能治癒裘馨型肌肉失養症，良好的物理治療和適時的開刀介入可嚴重的併發症變得較不嚴重。物理治療的方法包括運動治療、穿長腿支架幫助行走與站立、電刺激、胸腔照顧和使用呼吸器等。開刀對關節攣縮以及脊柱側彎的處理加上積極的復建計劃將會有更好的療效。

關鍵字

裘馨型肌肉失養症 ； 自然病程 ； 物理治療

並列摘要

Duchenne muscular dystrophy (DMD) is a disease of progressive muscular weakness. This type of muscular dystrophy is the most severe form of all types and is an X-linked disorder with the absence of a structural protein called dystrophin. This causes muscle fibers to go through cycles of deterioration and regeneration until the repair capacity is no longer sufficient and the muscle fibers replaced by fat and connective tissue. DMD patients suffer from significant muscle weakness before 5 years old. When patient loses the ambulatory ability and becomes dependent on wheel chair, severe multiple joint contracture will follow. Scoliosis also becomes severe after long duration in W/C. Respiratory insufficiency is the most common cause of patient death. Although medical Intervention can't cure this disease, proper physical therapy and surgical intervention could decrease the severity of complication. The methods for physical therapy include therapeutic exercise, long leg brace for walking and standing, electrical stimulation, chest care and used of ventilator. Surgical management for contracture and scoliosis following intensive rehabilitation could obtain better therapeutic effects.

並列關鍵字

Duchenne muscular dystrophy ； Natural history ； Physical therapy