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不宁腿综合征

Restless legs syndrome.

作者信息

Ekbom Karl, Ulfberg J

机构信息

Department of Neurology, Karolinska Institutet, Karolinska University Hospital, Huddinge, Sleep Disorders Center, Avesta Hospital, Stockholm, Sweden.

出版信息

J Intern Med. 2009 Nov;266(5):419-31. doi: 10.1111/j.1365-2796.2009.02159.x.

Abstract

Restless legs syndrome (RLS) is a common neurological sensory-motor disorder that is characterized by intense restlessness and unpleasant creeping sensations deep inside the lower legs. Symptoms appear when the legs are at rest and are worst in the evening and at night. They force patients to keep moving their legs, and often to get out of bed and wander about. Periodic limb movements (PLMS) are also common during sleep amongst those suffering from RLS, and sleep efficiency is severely reduced. There are idiopathic as well as symptomatic forms of RLS, the latter being associated with e.g. pregnancy, iron deficiency and chronic renal failure. A family history of RLS is very common and pedigrees in these cases suggest an autosomal-dominant transmission with high penetrance. Genetic investigations have been performed in order to identify genes associated with RLS. Several loci have been found (on chromosomes 12q, 14q, 9p, 2q, 20p and 16p). Pathophysiology of RLS remains incompletely understood. However, advanced brain imaging studies and positive results of dopaminergic treatment suggest that RLS may be generated by dopamine dysfunction locally within the central nervous system. At present, there is a wide range of treatment options including levodopa, dopamine agonists, opioids, benzodiazepines, antiepileptic drugs and iron supplements.

摘要

不宁腿综合征(RLS)是一种常见的神经感觉运动障碍,其特征为强烈的不安感以及小腿深部令人不适的蠕动感。症状在腿部休息时出现,在傍晚和夜间最为严重。这些症状迫使患者不停地活动腿部,常常还会迫使他们起床四处走动。在患有不宁腿综合征的患者中,睡眠期间周期性肢体运动(PLMS)也很常见,并且睡眠效率会严重降低。不宁腿综合征有特发性和症状性两种形式,后者与例如妊娠、缺铁和慢性肾衰竭有关。不宁腿综合征的家族病史非常常见,这些病例的系谱表明其遗传方式为常染色体显性遗传,且外显率高。已经进行了基因研究以确定与不宁腿综合征相关的基因。已发现了几个基因座(位于12号染色体长臂、14号染色体长臂、9号染色体短臂、2号染色体、20号染色体短臂和16号染色体短臂上)。不宁腿综合征的病理生理学仍未完全了解。然而,先进的脑成像研究以及多巴胺能治疗的阳性结果表明,不宁腿综合征可能是由中枢神经系统内局部的多巴胺功能障碍引起的。目前,有多种治疗选择,包括左旋多巴、多巴胺激动剂、阿片类药物、苯二氮䓬类药物、抗癫痫药物和铁补充剂。

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