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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 To investigate the clinical features of dopa-responsive dystonia (DRD) in order to improve the understanding of this disease and reduce the misdiagnosis and misdiagnosis. Methods The clinical data of 7 patients treated in our department were analyzed. Results There were 3 males and 4 females in 7 patients. They were from 4 families, one of them was a third sibling and one was a twin. The age of onset of 1-7 years old, were manifested as the first to affect the lower extremity muscle hypertrophy, walking difficulties, light morning, afternoon and evening heavy, continued for a long time will appear bow-shaped foot. After the initial diagnosis of small doses of dopa preparations for experimental treatment, a significant improvement after a few hours, the law completely returned to normal after treatment. Conclusions This disease is caused by abnormal muscular dysfunction in the lower extremities as the first symptom. There are many differences between the two groups in the severity of the disease. The results of early diagnosis and low dose of dopa preparation are significant.