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Last update 08 May 2025

Myoclonic Dystonia

Last update 08 May 2025

Basic Info

Synonyms

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

+ [18]

Introduction

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

Drugs associated with Myoclonic Dystonia

T-2000

Target

GABAA receptor

Mechanism

GABAA receptor agonists

Active Org.-

Originator Org.

Sun Pharmaceutical Industries Ltd.

Active Indication-

Inactive Indication

Essential Tremor [+2]

Drug Highest PhaseDiscontinued

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

Clinical Trials associated with Myoclonic Dystonia

NCT05671068

/ Active, not recruitingNot ApplicableIIT

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.

Start Date20 Jan 2023

Sponsor / Collaborator

Institut National de la Santé et de la Recherche Médicale

[+1]

NCT03428009

/ RecruitingNot ApplicableIIT

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.

Start Date01 Mar 2018

Sponsor / Collaborator

The University of Texas Southwestern Medical Center

[+1]

NCT03351218

/ CompletedNot ApplicableIIT

Neuronal Correlates of Agency in Dystonia

In this study, using computerized cognitive assessments combined with multi-modal neuroimaging approach investigators aim to address three specific questions on patients with cervical and myoclonus dystonia:
(i) investigate various aspects of the sense of agency and relationship to the severity of dystonia symptoms, (ii) characterize the possible link between abnormalities of movement perception and alteration of sense of agency in dystonia, (iii) (identify the neuronal underpinnings of the defective sense of agency in dystonia.

Start Date23 Oct 2017

Sponsor / Collaborator

Institut National de la Santé et de la Recherche Médicale

100 Clinical Results associated with Myoclonic Dystonia

100 Translational Medicine associated with Myoclonic Dystonia

0 Patents (Medical) associated with Myoclonic Dystonia

383

Literatures (Medical) associated with Myoclonic Dystonia

01 May 2025·Neurological Sciences

Myoclonus dystonia as a predominant manifestation in ataxia telangiectasia

Letter

Author: Lal, Vivek ; Mehta, Sahil ; Singh, Jagdeep ; Carvalho, Mitosha

01 May 2025·American Journal of Medical Genetics Part A

Sodium Oxybate‐Treated Familial Myoclonus‐Dystonia Syndrome Due to Novel SGCE Variant

Article

Author: Salih, Mustafa A. ; Alghamdi, Isra ; Alghamdi, Malak Ali ; Al‐Jelaify, Muneera ; Almontashiri, Naif A. ; Hamad, Muddathir H. ; Bashiri, Fahad A. ; Hamed, Hebattalah ; Alshimemeri, Sohaila ; Adly, Nouran ; Alghamdi, Ghiada

ABSTRACTMyoclonus‐dystonia syndrome (MDS, OMIM #159900) is an autosomal‐dominant movement disorder caused by heterozygous variants in the epsilon sarcoglycan gene (SGCE) and characterized by a combination of myoclonic jerks, dystonia, and psychiatric comorbidities. Patients with MDS have a normal life expectancy with markedly reduced quality of life. Here, we report four family members diagnosed with MDS of variable severity due to a novel heterozygous splicing variant in SGCE (c.341‐2A>G), including a 13‐year‐old female who presented with disabling dystonic spasms, myoclonic jerks, and psychiatric symptoms. She had shown little or no response to several conventional MDS treatments. However, disabling axial dystonia was significantly improved by sodium oxybate (1 g, twice daily). Although there was less effect on myoclonus, sodium oxybate treatment significantly improved the overall quality of life at the 3‐years follow‐up. Clinical trials are warranted to assess the clinical efficacy and safety of sodium oxybate for MDS‐associated dystonia.

01 Apr 2025·European Journal of Neurology

Multivariate Pattern Analysis of fMRI Reveals Striato‐Cortical Network Changes in Myoclonus‐Dystonia

Article

Author: Renken, Remco J. ; Marapin, Ramesh S. ; de Jong, Bauke M. ; Tijssen, Marina A. J. ; Timmers, Elze R. ; Dalenberg, Jelle R.

ABSTRACTBackgroundCurrently, the pathophysiology of myoclonus‐dystonia (M‐D) remains insufficiently understood. This study addresses this gap by adding innovative multivariate pattern analysis (MVPA) to traditional univariate analysis of functional magnetic resonance imaging (fMRI) data.MethodsData from 18 M‐D patients and 18 age‐matched healthy volunteers who performed a finger tapping fMRI task were analyzed. Whole‐brain univariate and searchlight (MVPA) analysis with varying hemodynamic response function (HRF) delays were employed to examine brain responses associated with the visually guided motor task.ResultsDistinguishing response patterns between M‐D patients and healthy volunteers revealed significant response reductions in the putamen, insula, and visual cortex. Compared to univariate analysis, searchlight analysis was more sensitive for brain activity patterns associated with finger tapping in both M‐D patients and healthy volunteers. At short HRF delays, increased (pre)motor cortical responses were evident in M‐D patients, whereas such responses emerged at a later HRF delay in healthy volunteers.ConclusionThe task‐related effects observed in M‐D patients support the involvement of the basal ganglia‐thalamo‐cortical network. Notably, cerebellar involvement was not strongly implicated in our study. We postulate that inherent deficits in the putamen trigger either premature or downstream compensatory (motor) cortical effects. The potential involvement of the visual cortex in the M‐D pathophysiology is new, but its role has been suggested by a previous study investigating visual sensory processing in SGCE gene‐positive M‐D patients. Our findings, including the innovative searchlight method, pave the way for further studies investigating the complex interplay between brain regions and networks and their role in M‐D pathogenesis.

News (Medical) associated with Myoclonic Dystonia

27 Nov 2024

·www.drugs.com

Sodium Oxybate Beneficial for Alcohol-Responsive Laryngeal Dystonia

WEDNESDAY, Nov. 27, 2024 -- Sodium oxybate improves symptoms of alcohol-responsive (EtOH-positive) isolated laryngeal dystonia (LD), according to a study published online Nov. 20 in the Annals of Neurology . Kristina Simonyan, M.D., Ph.D., from Massachusetts Eye and Ear and Harvard Medical School in Boston, and colleagues examined the efficacy and safety of sodium oxybate versus placebo in a phase 2b randomized, crossover clinical trial involving patients with isolated LD. The study was conducted in 106 patients with EtOH-positive and alcohol-non-responsive (EtOH-negative) LD who were randomly assigned to receive 1.5 g sodium oxybate first or matching placebo first (53 each). The change from baseline in LD symptom severity 40 minutes after drug intake was assessed as the primary outcome. The researchers found that EtOH-positive but not EtOH-negative patients had a significant improvement in LD symptoms following sodium oxybate versus placebo compared with baseline. In EtOH-positive patients, statistically significant minimum drug efficacy was found at ≥16 percent symptom improvement (odds ratio, 2.09), with an average benefit of 40.81 percent. By 300 minutes after intake, drug efficacy waned, without a rebound. There were no changes in cognitive function, suicide, or vital signs. Mild dizziness, nausea, and daytime sleepiness were common adverse events. "Our findings suggest that sodium oxybate can be taken on an as-needed basis, such as before work or a social event, so patients can tailor treatment to their own daily needs and get in control of their symptoms," Simonyan said in a statement. Abstract/Full Text Whatever your topic of interest, subscribe to our newsletters to get the best of Drugs.com in your inbox.

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