更新于：2024-11-01

Myoclonic Dystonia

肌阵挛性肌张力障碍

更新于：2024-11-01

基本信息

别名

Alcohol-Responsive Dystonia、Alcohol-responsive dystonia、DYSTONIA 11, MYOCLONIC

+ [18]

简介

Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks.

关联

项与肌阵挛性肌张力障碍相关的药物

T-2000

靶点

GABAA receptor

作用机制

GABAA receptor激动剂

在研机构-

原研机构

Sun Pharmaceutical Industries Ltd.

在研适应症-

非在研适应症

特发性震颤 [+2]

最高研发阶段终止

首次获批国家/地区-

首次获批日期1800-01-20

项与肌阵挛性肌张力障碍相关的临床试验

NCT05671068 / Not yet recruitingN/AIIT

CEREBELLAR INVOLVEMENT IN MOTOR, COGNITIVE AND EMOTIONAL PROCESSES IN MYOCLONUS DYSTONIA

Background:
Myoclonus dystonia (DYT-SGCE) is characterized by myoclonus and dystonia. Such condition is associated with a high prevalence of psychiatric symptoms which are part of the phenotype. The mechanisms underlying these non-motor symptoms are still poorly understood.
Objective:
To investigate the neural correlates of cognition and emotion in DYT-SGCE.
Design:
Participants will have 1 - 2 visits at the clinical center. The total participation time is less than 24 hours.
Participants will have a medical interview and a neurological exam. They may give a urine sample before MRI.
Participants will have a short neuropsychologic and psychiatric interviews. Participants will have MRI scans. They will do small tasks or be asked to imagine things during the scanning.

开始日期2023-01-01

申办/合作机构

Institut National de la Santé et de la Recherche Médicale

[+1]

NCT03428009 / RecruitingN/AIIT

Dystonia Genotype-Phenotype Correlation: A Study to Identify Additional Genetic Associations That Contribute to Specific Dystonic Phenotypes

The purpose of this study is to (1) investigate the effect of known dystonia-causing mutations on brain structure and function, to (2) identify structural brain changes that differ between clinical phenotypes of dystonia, and to (3) collect DNA, detailed family history, and clinical phenotypes from patients with idiopathic dystonia with the goal of identifying new dystonia-related genes. Investigators will be recruiting both healthy control subjects and subjects with any form of dystonia. For this study there will be a maximum of two study visit involving a clinical assessment, collection of medical and family history, task training session, an MRI using the learned tasks, and finally a blood draw for genetic analysis. In total, these visits will take 3-5 hours. If the dystonia subjects receive botulinum toxin injections for treatment, the participants and their matched controls will be asked to come for a second visit.

开始日期2018-03-01

申办/合作机构

The University of Texas Southwestern Medical Center

[+1]

NCT01806805 / Completed临床3期IIT

Comparative Study of the Efficiency of Zonisamide in Myoclonus Dystonia: A Monocentric , Randomized in Cross Over and Double Blind Study Versus Placebo Study

Myoclonus Dystonia is a disease in which myoclonus distort the precision of movements and so cause a handicap in the movements of the everyday life. Response to oral medications may be incomplete and surgery may cause operating risk.
Zonisamide is an antiepileptic drug which could bring a therapeutic profit in Myoclonus Dystonia on the severity of the myoclonus.

开始日期2012-02-01

申办/合作机构

Assistance Publique des Hôpitaux de Paris SA

100 项与肌阵挛性肌张力障碍相关的临床结果

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100 项与肌阵挛性肌张力障碍相关的转化医学

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0 项与肌阵挛性肌张力障碍相关的专利（医药）

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367

项与肌阵挛性肌张力障碍相关的文献（医药）

2024-09-10·European journal of neurology

Microstructure of the cerebellum and its afferent pathways underpins dystonia in myoclonus dystonia.

Article

作者: Defebvre, Luc ; Didier, Mélanie ; McGovern, Eavan M ; Tranchant, Christine ; Roze, Emmanuel ; Tarrano, Clément ; Degos, Bertrand ; Vidailhet, Marie ; Krystkowiak, Pierre ; Delorme, Cécile ; Brochard, Vanessa ; Zito, Giuseppe ; Thobois, Stéphane ; Atkinson-Clement, Cyril ; Valabrègue, Romain ; Houeto, Jean-Luc ; Grabli, David ; Corvol, Jean Christophe ; Galléa, Cécile ; Worbe, Yulia ; Degardin, Adrian ; Apartis, Emmanuelle ; Pedespan, Jean-Michel

BACKGROUND AND PURPOSEMyoclonus dystonia due to a pathogenic variant in SGCE (MYC/DYT-SGCE) is a rare condition involving a motor phenotype associating myoclonus and dystonia. Dysfunction within the networks relying on the cortex, cerebellum, and basal ganglia was presumed to underpin the clinical manifestations. However, the microarchitectural abnormalities within these structures and related pathways are unknown. Here, we investigated the microarchitectural brain abnormalities related to the motor phenotype in MYC/DYT-SGCE.METHODSWe used neurite orientation dispersion and density imaging, a multicompartment tissue model of diffusion neuroimaging, to compare microarchitectural neurite organization in MYC/DYT-SGCE patients and healthy volunteers (HVs). Neurite density index (NDI), orientation dispersion index (ODI), and isotropic volume fraction (ISOVF) were derived and correlated with the severity of motor symptoms. Fractional anisotropy (FA) and mean diffusivity (MD) derived from the diffusion tensor approach were also analyzed. In addition, we studied the pathways that correlated with motor symptom severity using tractography analysis.RESULTSEighteen MYC/DYT-SGCE patients and 24 HVs were analyzed. MYC/DYT-SGCE patients showed an increase of ODI and a decrease of FA within their motor cerebellum. More severe dystonia was associated with lower ODI and NDI and higher FA within motor cerebellar cortex, as well as with lower NDI and higher ISOVF and MD within the corticopontocerebellar and spinocerebellar pathways. No association was found between myoclonus severity and diffusion parameters.CONCLUSIONSIn MYC/DYT-SGCE, we found microstructural reorganization of the motor cerebellum. Structural change in the cerebellar afferent pathways that relay inputs from the spinal cord and the cerebral cortex were specifically associated with the severity of dystonia.

2024-06-01·Pediatric Investigation

Bilateral globus pallidus internus‐deep brain stimulation in a 5‐year‐old boy with SGCE‐related myoclonus dystonia syndrome

Article

作者: Dai, Lifang ; Xie, Zixing ; Liu, Ming ; Fang, Tie ; Ding, Changhong ; Tian, Xiaojuan

2024-06-01·Journal of Neurology

Pallidal deep brain stimulation for patients with myoclonus-dystonia without SGCE mutations

Article

作者: Kamiyama, Tsutomu ; Kawasaki, Takashi ; Ikezawa, Jun ; Takahashi, Kazushi ; Yugeta, Akihiro ; Watanabe, Katsushige ; Tojima, Maya ; Agari, Takashi ; Yokochi, Fusako ; Okiyama, Ryoichi ; Kumada, Satoko ; Isoo, Ayako

BACKGROUNDPallidal deep brain stimulation (GPi-DBS) is effective for treating myoclonus and dystonia caused by SGCE mutations (DYT-SGCE, DYT11). However, it is unknown whether GPi-DBS is effective for the treatment of myoclonus-dystonia which is not associated with the SGCE gene mutations. In this study, we investigated the efficacy of GPi-DBS in treating myoclonus-dystonia in SGCE mutation-negative cases.METHODSThree patients with myoclonus-dystonia without SGCE mutations who underwent GPi-DBS were evaluated preoperatively and 6 months postoperatively using the Unified Myoclonus Rating Scale (UMRS) and Fahn-Marsden Dystonia Rating Scale (FMDRS) for myoclonus and dystonia, respectively. In two of the three patients, myoclonus was more evident during action. Myoclonus was predominant at rest in the other patient, and he was unaware of his dystonia symptoms. The results were compared with those of the four DYT-SGCE cases.RESULTSThe mean UMRS score in patients with myoclonus-dystonia without SGCE mutations improved from 61.7 to 33.7 pre- and postoperatively, respectively, and the mean FMDRS score improved from 7.2 to 4.5. However, the degree of improvement in myoclonus-dystonia in patients without SGCE mutations was inferior to that in patients with DYT-SGCE (the UMRS score improved by 45% and 69%, respectively).CONCLUSIONSGPi-DBS is effective for treating myoclonus-dystonia in patients with and without SGCE mutations. GPi-DBS should be considered as a treatment option for myoclonus-dystonia without SGCE mutations.