多巴反应性肌张力不全的临床分析(附7例报告)  

The clinical analysis of dopa-responsive dystonia(enclose 7 cases)

作　　者：张银芳[1] 杨彩凤[1] 刘晓莉[1] 郝青英[1] 

机构地区：[1]山西医科大学第二医院儿科,太原030001

出　　处：《中国医疗前沿》2011年第21期48-49,共2页China Healthcare Innovation

摘　　要：目的探讨多巴反应性肌张力不全(DRD)的临床特点,以提高对本病的认识,减少误诊、误治。方法对我科诊治的7例患者的临床资料进行分析。结果 7例患者男性3例,女性4例,来自4个家庭,其中一家为三姐弟,一家为双胞胎。发病年龄1-7岁,均表现为最先累及下肢的肌张力不全,行走困难,早晨轻,下午和晚上重,持续较长时间者会出现弓形足。初步诊断后予小剂量多巴制剂试验性治疗,数小时即有明显改善,规律用药后完全恢复正常。结论本病以肌张力不全导致的下肢行动异常为首发症状,病情差异较大,多有晨轻暮重的特点,早期诊断并予小剂量多巴制剂治疗效果显著。Objective Discuss the clinicai feature of Dopa-responsive dystonia, increase physician＇s knowledge of this rare disorder, decrease misdiagnosis and treatment delay. Methods Analyze their clinical feature of 7 patients diagnosed in our outpatient clinic. Results 3 male and 4 female in 4 families, including three in one family, and twins in another family. Onset was between 1-7 years old. Typical symptoms are gait difficulties, flexion-inversion of the foot, worsening of symptoms toward the evening, and a dramatic and sustained response to low doses of oral administration of levodopa. Conclusions Initial symptoms of dopa-responsive dystonia are gait disturbance, can show considerable variation, usually with character phenomenon called diurnal fluctuation .Treatment is with levodopa, and the results are dramatic.

关 键 词：肌张力不全 左旋多巴 晨轻暮重 

分 类 号：R725[医药卫生—儿科]