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目的 总结多巴反应性肌张力不全 (DRD)的临床特征。方法 对 9例DRD患儿的临床资料进行分析。结果 男 2例 ,女 7例 ,其中 2例为同一家系的姐妹。发病年龄 9个月至 8岁 ,平均 4 4岁。首发症状为步态异常 8例 ,肢体僵硬、活动减少 1例 ,伴肢体震颤 2例。就诊时主要症状 :9例均有下肢运动障碍 ,足尖行走 5例 ,震颤 4例 ,肢体僵硬、活动困难 3例 ,构音不清 1例 ,斜颈 1例。 6例症状有晨轻暮重特点。体检 :8例肢体肌张力呈铅管样或齿轮样增高 ,以双下肢为著。姿势性震颤 4例 ,马蹄内翻足 4例 ,双下肢腱反射亢进 2例 ,巴彬斯基征阳性 2例 ,踝阵挛阳性 1例。头颅CT、MRI及血清铜蓝蛋白均正常。 9例用左旋多巴制剂治疗均有显著疗效 ,8例症状消失 ,步态异常完全恢复正常。结论 诊断主要依据儿童期以步态异常为首发症状、症状有晨轻暮重特点、小剂量多巴制剂有显著疗效的临床特征。早期治疗效果好
Objective To summarize the clinical features of dopa-responsive dystonia (DRD). Methods The clinical data of 9 children with DRD were analyzed. Results There were 2 males and 7 females, of whom 2 were sisters of the same pedigree. The age of onset of 9 months to 8 years old, with an average of 4 4 years old. The first symptom of gait abnormalities in 8 cases, limb stiffness, decreased activity in 1 case, with limb tremor in 2 cases. The main symptoms at the time of visit were: lower extremity dyskinesia in 9 cases, 5 cases of toe walking, 4 cases of tremor, stiff limbs, difficulty in activities in 3 cases, unclear articulation in 1 case and torticollis in 1 case. 6 cases of symptoms are mild morning dusk heavy features. Physical examination: 8 cases of limb muscle tone was plumbum or gear-like increase, with both lower extremities. Postural tremor in 4 cases, clubfoot in 4 cases, double lower extremity tendon hyperreflexia in 2 cases, Babinski sign positive in 2 cases, ankle clonus positive in 1 case. Head CT, MRI and serum ceruloplasmin were normal. 9 cases of levodopa preparations have a significant effect, 8 cases disappeared, abnormal gait returned to normal. Conclusions The diagnosis is mainly based on the abnormal gait in childhood as the first symptom, the symptoms of morning dawn heavy features, low-dose dopa preparations have a significant clinical efficacy. Early treatment is effective