Dopa-responsive dystonia revisited: diagnostic delay, residual signs, and nonmotor signs.

Vera Tadic, Meike Kasten, Norbert Brüggemann, Sophie Stiller, Johann Hagenah, Christine Klein
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引用次数: 103

Abstract

Objective: To investigate the delay in diagnosis, residual motor signs, and nonmotor signs of dopa-responsive dystonia (DRD) using literature and our own pilot data.

Design, setting, and patients: We searched the MEDLINE database for patients with clinically typical DRD and/or guanosine triphosphate cyclohydrolase I gene mutations from 1952 to 2011 and examined a pilot cohort of 23 outpatients with DRD and guanosine triphosphate cyclohydrolase I gene mutations.

Results: The literature search yielded 101 reports describing 576 cases. Excluding cases without proven guanosine triphosphate cyclohydrolase I gene mutations as well as homozygous and asymptomatic mutation carriers resulted in 352 cases. The mean (SD) ages at onset were 11.6 (13.4) years (literature) and 9.4 (7.7) years (pilot study). The average (SD) delays in diagnosis were 13.5 (13.3) years (literature) and 15.5 (16.3) years (pilot study); using all literature cases, they were 9.1 (7.5) years before and 15.2 (13.7) years after identification of the guanosine triphosphate cyclohydrolase I gene. Residual motor signs in patients receiving therapy were found in 28% (literature) and 39% (pilot study). Residual motor signs in the literature comprised dystonic (20%) and parkinsonian (11%) symptoms, as well as complications such as contractures or unnecessary surgical procedures. Information on nonmotor signs was given for 70 patients in the literature. Of these, 34% had depression, 19% anxiety, and 9% obsessive-compulsive disorder. Six of our own cases (32%) reported 1 or more nonmotor signs including depression and migraine.

Conclusions: The delay in diagnosis is long, despite the well-known etiology and availability of genetic testing and specific therapy. A sizable number of treated patients have residual motor signs, nonmotor signs, and complications resulting from the lack of timely therapy or unnecessary procedures.

重新审视多巴反应性肌张力障碍:诊断延迟、残留体征和非运动体征。
目的:利用文献资料和我们自己的试验数据,探讨多巴反应性肌张力障碍(DRD)的诊断延误、残留运动体征和非运动体征。设计、环境和患者:我们在MEDLINE数据库中检索了1952年至2011年间临床典型DRD和/或鸟苷三磷酸环水解酶I基因突变的患者,并检查了23名DRD和鸟苷三磷酸环水解酶I基因突变的门诊患者。结果:文献检索得到101篇报道,共576例。排除未证实鸟苷三磷酸环水解酶I基因突变的病例,以及纯合和无症状突变携带者352例。平均(SD)发病年龄分别为11.6(13.4)岁(文献)和9.4(7.7)岁(初步研究)。平均诊断延迟(SD)为13.5(13.3)年(文献)和15.5(16.3)年(试点研究);结合所有文献病例,分别为鸟苷三磷酸环水解酶I基因鉴定前9.1(7.5)年和15.2(13.7)年。接受治疗的患者中有28%(文献)和39%(初步研究)发现残留的运动体征。文献中残留的运动体征包括肌张力障碍(20%)和帕金森病(11%)症状,以及诸如挛缩或不必要的外科手术等并发症。文献中给出了70例患者的非运动体征信息。其中,34%患有抑郁症,19%患有焦虑症,9%患有强迫症。我们自己的六个病例(32%)报告了一种或更多的非运动症状,包括抑郁和偏头痛。结论:尽管众所周知的病因和基因检测和特异性治疗的可用性,诊断延误很长时间。相当数量的治疗患者存在残留的运动体征、非运动体征以及由于缺乏及时治疗或不必要的手术而导致的并发症。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Archives of neurology
Archives of neurology 医学-临床神经学
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