摘要
近年來肢體不寧症引發社會大眾與研究人員廣泛的注意。不僅因爲它的高盛行率（特別是在西方世界）；更因爲它有許多有趣特性，如：動靜變化與晨昏更迭對症狀的影響；以及它與其他疾病的高度相關性，如：週期性肢體抽動症或缺鐵性貧血的關係。 肢體不寧症是一種主觀的症狀，病人的腿部有一種難以抑制的內在衝動不斷地想要移動，經常同時伴隨著不舒服感覺。這樣的腿部不適感，會隨著靜止休息或刻意壓抑不動的時間增長而與時俱增，直到腿部移動才得以獲得緩解與釋放。此外，症狀晚上遠比白天嚴重。現今臨床診斷肢體不寧症依循的是於2003年在美國國家衛生院制定的診斷要素。針對這種臨床診斷奠基於病患主觀描述之疾病，我們有必要進一步深入了解，以避免錯誤的診斷。檢測血中鐵離子及攜鐵蛋白的濃度及血色素是必要的。診斷有疑問時可利用多頻道睡眠監測儀、活動踝錶、強迫靜止姿勢造成腿部不適感的測試、多巴胺藥物測試對症狀的改善反應，來幫助診斷。肢體不寧症的病理機轉，目前仍有許多不能明瞭之處，可能導因於腦榦區多巴胺系統功能不佳，致下行抑制徑路不足使得“上脊髓層抑制不良”腿部出現不正常的感覺與動作。文中亦針對近期基因研究與治療方面作介紹。
並列摘要
The restless legs syndrome (RLS) is a common neurological disorder to take possession of increasing attention. RLS is characterized by an urge to move the legs, usually accompanied by uncomfortable or unpleasant sensations, that occurs or worsen at rest and is relieved by activity. The symptoms of RLS have a major impact on nocturnal sleep and daytime functions. The clinical diagnostic criteria were established and published in 2003 by International Restless Legs Syndrome Study Group (IRLSSG). All four essential criteria must be met for a positive diagnosis. However, RLS encompassed an idiopathic form of genetic or unknown origin and secondary forms associated with many causes. Special awareness should be kept for differential diagnosis such as uremia, iron deficiency anemia, polyneuropathy, rheumatoid arthritis, and other neurodegenerative diseases. Polysomnography, actinography, L-dopa loading test, and suggested immobilization test (SIT) are helpful tools to reduce the diagnostic puzzle of false positive and false negative. Pathophysiological concepts of RLS are essentially based on the neuroimaging and neurophysiological data to assume a dysfunction of the dopaminergic system, possibly on the A11 neuron group localized in the hypothalamus. These neurons modulate spinal excitability and alter the sensory processing predominantly of leg afferents. Treatment may be closely linked to the dopaminergic system and iron metabolism. Dopaminergic stimulation with levodopa or dopamine agonists is the first choice in idiopathic restless legs syndrome, but the long-term adverse effect of augmentation should be carefully monitored.