Department of Neurology, University Medical Center Groningen, University of Groningen, PO Box 30.001, 9700 RB, Groningen, the Netherlands.
Department of Neurology, University Medical Center Groningen, University of Groningen, PO Box 30.001, 9700 RB, Groningen, the Netherlands; Department of Neurology, Ommelander Hospital Group, PO Box 30.000, 9930 RA, Delfzijl, the Netherlands.
Parkinsonism Relat Disord. 2019 Dec;69:85-90. doi: 10.1016/j.parkreldis.2019.10.015. Epub 2019 Oct 22.
Myoclonus-dystonia (M-D) due to a pathogenic variant of SGCE is an autosomal dominant inherited movement disorder. Apart from motor symptoms, psychiatric disorders are highly prevalent in patients with M-D. Previous studies suggest, but never tested directly, that the type of psychiatric disorder differs between dystonia syndromes, probably related to disease specific pathology. Little is known about other non-motor symptoms (NMS) in M-D. Here, we systematically study NMS in M-D in direct comparison to other types of dystonia and healthy controls.
Standardized questionnaires were used to assess type and severity of psychiatric co-morbidity, sleep problems, fatigue and quality of life. Results of M-D patients with a pathogenic variant of SGCE were compared to results of idiopathic cervical dystonia (CD) patients, dopa-responsive dystonia (DRD) patients with a pathogenic variant of GCH1 and controls.
We included 164 participants: 41 M-D, 51 CD, 19 DRD patients, 53 controls. Dystonia patients (M-D, CD and DRD) had an increased prevalence of psychiatric disorders compared to controls (56-74% vs. 29%). In M-D we found a significantly increased prevalence of obsessive-compulsive disorder (OCD) and psychosis compared to CD and DRD. All dystonia patients had more sleep problems (49-68% vs. 36%) and fatigue (42-73% vs. 15%) than controls. Compared to other dystonia subtypes, M-D patients reported less excessive daytime sleepiness and fatigue.
Psychiatric comorbidity is frequent in all dystonia types, but OCD and psychosis are more common in M-D patients. Further research is necessary to elucidate underlying pathways.
由 SGCE 致病性变异引起的肌阵挛 - 肌张力障碍（M-D）是一种常染色体显性遗传性运动障碍。除运动症状外，M-D 患者还普遍存在精神障碍。既往研究表明，但从未直接测试过，不同的肌张力障碍综合征的精神障碍类型不同，可能与疾病特异性病理学有关。关于 M-D 的其他非运动症状（NMS）知之甚少。在这里，我们系统地研究了 M-D 的 NMS，并与其他类型的肌张力障碍和健康对照组进行了直接比较。
使用标准化问卷评估精神病合并症、睡眠问题、疲劳和生活质量的类型和严重程度。将携带 SGCE 致病性变异的 M-D 患者的结果与特发性颈肌张力障碍（CD）患者、携带 GCH1 致病性变异的多巴反应性肌张力障碍（DRD）患者和对照组的结果进行比较。
我们纳入了 164 名参与者：41 名 M-D、51 名 CD、19 名 DRD 患者、53 名对照组。与对照组相比，肌张力障碍患者（M-D、CD 和 DRD）的精神障碍患病率更高（56-74%对 29%）。在 M-D 中，我们发现强迫症（OCD）和精神病的患病率明显高于 CD 和 DRD。所有肌张力障碍患者的睡眠问题（49-68%对 36%）和疲劳（42-73%对 15%）比对照组更严重。与其他肌张力障碍亚型相比，M-D 患者报告的日间过度嗜睡和疲劳较少。
所有类型的肌张力障碍都常伴有精神共病，但 OCD 和精神病在 M-D 患者中更为常见。需要进一步研究以阐明潜在的途径。
