成年人的多巴反应性肌张力失常

Adult dopa-responsive dystonia

目的 加强对多巴反应性肌张力失常的认识和重视。方法 回顾近2年我们诊治的3例成年人DRD患者之临床表现、辅助检查与治疗。结果 3例均为女性,无家族史。发病年龄14～29岁,平均20±7.94岁,平均误诊时间29.33±15.95年。表现为缓慢起病,四肢发僵,活动困难或伴有肢体震颤,足趾屈曲、内翻畸形;症状呈晨轻暮重。查体发现四肢肌张力强直性或齿轮样增高,双下肢腱反射活跃至亢进,1例病理征可疑阳性和脊柱前屈。辅助检查:血清学检查、CSF、头颅CT或MRI和神经电生理检查均正常。用小剂量复方左旋多巴有显著改善,平均剂量为98.21±49.17mg/d,使用最长者已达14年,无需增加剂量。结论 本病为少见的运动障碍疾病,在诊断中应与帕金森病鉴別。小剂量复方左旋多巴有显著、持久的疗效,早期应用安坦、金刚烷胺也有效。

Objective To attach importance and further recognition on adult dopa-responsive dystonia (DRD) or hereditary progressive dystonia (HPD) with marked diurnal fluctuation. Methods The clinical data, laboratory investigations and treatment of three patients from various families without family history of DRD who were admitted in out hospital in the last two years were analyzed retrospectively in detail. Results Three adult female DRD patients without family history of DRD, whose onset ages ranged from 14 to 29 years (20±7.94 years) and average delayed diagnosis time was 29.33±15.95 years, developed stiffness in the limbs,toe flexion and equinovarus foot deformity or accompanied by tremors in their extremities, and had difficulty in their activities. All patients had marked diurnal fluctuation of their symptoms, characterized by alleviation in the mornings or after noontime break and aggravation towards the evenings. Lead-pipe or cogwheel rigidity of the limbs could be found in all cases; tendon reflex of both lower extremities displayed active or excessive reflection; one patient had extension plantar reflex and lordosis. Investigations such as serologic examination,brain CT or/and MRI、CSF and neuroelectrophysiological tests showed normal. Compound L-dopar had significant effect on the improvement of their symptoms of DRD. The average madopar dosage was 98.21±49.17 mg/d. The longest course was 47 years. It is striking and lasting that symptoms in the cases were improved by low dosage of madopar. Conclusion DRD is a rare and hereditary movement disorder. The diagnosis of DRD should be differentiated from the patients with Parkinson's disease (PD). Lowdosed madopar with the good response and persistence effect on the improvement of the symptoms of DRD should be highly recommended. Artane and Amantadine were also effective on the early course of DRD.