dystonia
Information
- Disease name
- dystonia
- Disease ID
- DOID:543
- Description
- "A movement disease that is characterized by involuntary muscle contractions causing repetitive or twisting movements." [url:https\://rarediseases.org/rare-diseases/dystonia/, url:https\://www.mayoclinic.org/diseases-conditions/dystonia/symptoms-causes/syc-20350480, url:https\://www.ninds.nih.gov/disorders/patient-caregiver-education/fact-sheets/dystonias-fact-sheet]
Disease area statistics
Chromosome band
| Gene symbol | Chromosome | Start | Stop | The number of variant |
|---|---|---|---|---|
| TOR1A | 9 | 129,812,942 | 129,824,136 | 4 |
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT02911103 | Active, not recruiting | Phase 1/Phase 2 | Deep Brain Stimulation Surgery for Focal Hand Dystonia | January 17, 2018 | February 2, 2029 |
| NCT02252380 | Active, not recruiting | N/A | ExAblate Transcranial MRgFUS for the Management of Treatment-Refractory Movement Disorders | May 2015 | December 2023 |
| NCT06232629 | Active, not recruiting | N/A | Towards Noninvasive DBS of the Basal Ganglia in Parkinson's Disease Using TUS | August 1, 2023 | March 30, 2024 |
| NCT05956223 | Active, not recruiting | N/A | The Development of a System for Measurement of Tremor | November 30, 2023 | June 30, 2025 |
| NCT05887739 | Active, not recruiting | Harmonic Ratio in Patients With GLUT1 Deficiency Syndrome | January 1, 2023 | December 31, 2026 | |
| NCT03582891 | Active, not recruiting | N/A | The Motor Network in Parkinson's Disease and Dystonia: Mechanisms of Therapy | October 1, 2018 | March 2028 |
| NCT00580658 | Approved for marketing | Humanitarian Device Exemption | |||
| NCT00106782 | Completed | Phase 2 | Transcranial Electrical Polarization to Treat Focal Hand Dystonia | March 18, 2005 | May 14, 2010 |
| NCT00122044 | Completed | Phase 2 | Childhood Hypertonia of Central Origin: A Trial of Anticholinergic Treatment Effects | January 2003 | December 2004 |
| NCT00169338 | Completed | Phase 2 | Pallidal Stimulation in Patients With Post-anoxic and Idiopathic Dystonia | September 2005 | January 2014 |
| NCT00285870 | Completed | Quantification of Upper Extremity Hypertonia | January 2006 | December 2012 | |
| NCT05106816 | Completed | N/A | The Effects of Vibrotactile Stimulation in Patients With Movement Disorders | October 7, 2021 | September 20, 2022 |
| NCT04948684 | Completed | Efficacy of Botulinum Toxin for the Treatment of Dystonia Associated With Parkinson's Disease and Atypical Parkinsonism | September 1, 2017 | February 11, 2021 | |
| NCT00361465 | Completed | DYSCAR: Characterization of Dystonia | August 2006 | December 2010 | |
| NCT00465790 | Completed | Research of Biomarkers in Parkinson Disease | October 2007 | June 2012 | |
| NCT00472914 | Completed | Use of EMG to Assess Clinical Hypertonia | January 2007 | March 2007 | |
| NCT04712552 | Completed | In Vivo Measurement of the Accuracy of the "Neurolocate" Module of the Neurosurgical Robot "Neuromate" in Its Application to Deep Brain Stimulation | January 26, 2021 | January 7, 2023 | |
| NCT04568681 | Completed | Deep Brain Stimulation Effects in Dystonia | November 5, 2020 | July 12, 2022 | |
| NCT04299087 | Completed | N/A | Repetitive Transcranial Magnetic Stimulation (rTMS) for Dystonia and Tremor | March 12, 2020 | August 11, 2022 |
| NCT03892798 | Completed | Database Of Clinical Data For Individuals With Variants In The IRF2BPL Gene | November 27, 2018 | May 17, 2024 | |
| NCT00773604 | Completed | N/A | Deep Brain Stimulation in Patients With Dystonia | June 2008 | February 2015 |
| NCT00792532 | Completed | Use of Interventional MRI for Implantation of Deep Brain Stimulator Electrodes | July 2003 | March 2019 | |
| NCT00878787 | Completed | N/A | Theta-burst Transcranial Magnetic Stimulation | January 2008 | January 2010 |
| NCT03884231 | Completed | A Post-Market Study Evaluating the Safety of Infinity DBS System With MR Conditional Labeling | April 10, 2019 | August 20, 2021 | |
| NCT00950196 | Completed | Phase 4 | Amantadine for Improving Neurologic Symptoms in Ataxia-Telangiectasia | November 2008 | November 2009 |
| NCT00954408 | Completed | Fatigue in Dystonia (a Single Session, Questionnaire-based Study of Fatigue in Dystonia) | July 2009 | July 2011 | |
| NCT03779308 | Completed | N/A | Whole Body Vibration for Dystonia Cerebral Palsy | January 1, 2019 | December 31, 2019 |
| NCT00998660 | Completed | Phase 4 | RECHARGE Sub-Study to the Implantable Systems Performance Registry (ISPR) | July 2009 | July 2013 |
| NCT01019343 | Completed | N/A | Physiological Investigations of Movement Disorders | December 8, 2009 | October 9, 2020 |
| NCT01169324 | Completed | N/A | Effect of Deep Brain Stimulation (DBS) on Sleep Architecture in Patients With Movement Disorders | July 15, 2010 | December 11, 2015 |
| NCT01210534 | Completed | Physiological Brain Atlas Development | August 2010 | October 18, 2021 | |
| NCT03753945 | Completed | N/A | Spine MRI in Patients With Deep Brain Stimulation (DBS) | March 1, 2019 | January 21, 2022 |
| NCT01373424 | Completed | The Dystonia Coalition Natural History and Biospecimen Repository for Isolated Dystonias | January 2011 | September 30, 2020 | |
| NCT01432899 | Completed | Studying Childhood-Onset Hemidystonia | September 10, 2011 | December 20, 2018 | |
| NCT01433757 | Completed | Phase 1 | Ampicillin for DYT-1 Dystonia Motor Symptoms | September 2011 | June 2017 |
| NCT01435681 | Completed | Can Short Latency Afferent Inhibition Give us Clues to Better DYT 1 Dystonia Treatments? | May 2012 | August 2016 | |
| NCT01495897 | Completed | N/A | Abnormal Movements, Cerebellum and Sensorimotor : Oculomotor Study | March 2011 | March 2014 |
| NCT01579266 | Completed | Validating a New Writer s Cramp Scale | March 21, 2012 | October 25, 2016 | |
| NCT03587350 | Completed | N/A | Assessing Cervical Dystonia | April 7, 2017 | January 31, 2018 |
| NCT01698450 | Completed | Phase 1 | Magnetic Resonance (MR) Guided Functional Ultrasound-Neurosurgery for Movement Disorders | November 2012 | December 2013 |
| NCT01705301 | Completed | Neurotransmitter Measurements Using (WINCS) During Deep Brain Stimulation Neurosurgery | January 2010 | July 27, 2017 | |
| NCT01761903 | Completed | Functional Connectivity in Primary Focal Dystonia | May 2012 | June 2018 | |
| NCT03318120 | Completed | N/A | Exercise Training in Dystonia | November 6, 2017 | June 24, 2022 |
| NCT01809613 | Completed | Functional Magnetic Resonance Imaging (fMRI) During Deep Brain Stimulation (DBS) to Treat Parkinson's Disease | March 2013 | July 27, 2017 | |
| NCT03307161 | Completed | N/A | Osteopathic Manual Treatment Parkinson's Disease and Truncal Dystonia | November 2016 | September 20, 2021 |
| NCT03232320 | Completed | Phase 3 | Meditoxin® Treatment in Patients With Cervical Dystonia | July 6, 2017 | November 5, 2018 |
| NCT01888926 | Completed | The Effects of Repetitive Paired Associative Stimulation in Dystonia | June 18, 2013 | August 2, 2016 | |
| NCT02015039 | Completed | Phase 1/Phase 2 | Pilot Trial of Botulinum Toxin and Occupational Therapy for Writer's Cramp | December 3, 2013 | September 13, 2016 |
| NCT02071446 | Completed | Local Fields Potentials Recorded From Deep Brain Stimulating Electrodes | March 2014 | November 29, 2017 | |
| NCT02076581 | Completed | MyoSense- Automated Muscle Hypertonicity Classification System | February 2014 | April 2015 | |
| NCT02107261 | Completed | Phase 2 | Incobotulinum Toxin A (Xeomin®) As A Treatment For Focal Task-Specific Dystonia Of The Musician's Hand | March 2014 | January 27, 2020 |
| NCT02263417 | Completed | Phase 4 | A Randomized Controlled Trail Comparing Subthalamic and Pallidal Deep Brain Stimulation for Dystonia | July 2015 | June 2020 |
| NCT02468843 | Completed | Novel Stimulation Patterns for the Treatment of Dystonia | July 2015 | August 2016 | |
| NCT03017586 | Completed | N/A | Efficacy and Safety of DBS in Patients With Primary Dystonia | December 27, 2017 | December 17, 2021 |
| NCT02542839 | Completed | N/A | rTMS and Botulinum Toxin in Primary Cervical Dystonia | November 2015 | June 28, 2021 |
| NCT03223623 | Completed | N/A | Pathophysiology of Focal Hand Dystonia | December 12, 2017 | May 18, 2022 |
| NCT00004421 | Completed | Phase 2/Phase 3 | Deep Brain Stimulation in Treating Patients With Dystonia | September 1997 | September 2000 |
| NCT00001784 | Completed | Phase 2 | Mexiletine for the Treatment of Focal Dystonia | July 1998 | July 2002 |
| NCT00072956 | Completed | The Physiology of Tricks | November 2003 | October 2005 | |
| NCT00082615 | Completed | Neurophysiological Markers in Patients With Craniofacial Dystonia and Their Relatives | May 11, 2004 | April 21, 2008 | |
| NCT00102999 | Completed | Brain Function in Focal Dystonia | January 31, 2005 | January 22, 2009 | |
| NCT00105430 | Completed | Phase 2 | Deep Brain Stimulation for Cervical Dystonia | March 2005 | July 2006 |
| NCT02727361 | Completed | N/A | Role of the Striatal Cholinergic System in the Pathophysiology of Dystonia | January 2016 | March 1, 2018 |
| NCT02780336 | Completed | Blepharospasm Tools | August 2016 | March 20, 2019 | |
| NCT03078816 | Completed | N/A | Thalamic Deep Brain Stimulation for Secondary Dystonia in Children and Young Adults | March 3, 2017 | July 24, 2019 |
| NCT03027310 | Completed | Clinical and Physiological Studies of Tremor Syndromes | May 5, 2017 | March 23, 2022 | |
| NCT02689466 | Completed | Cholinergic Receptor Imaging in Dystonia | December 16, 2016 | November 26, 2021 | |
| NCT02553525 | Enrolling by invitation | N/A | Effects of Stimulation Patterns of Deep Brain Stimulation | June 2, 2016 | September 2026 |
| NCT02320266 | Enrolling by invitation | Sensory Gating Measured With Microelectrode Recording (MER) During Deep Brain Stimulation (DBS) Surgery | December 2014 | December 2025 | |
| NCT06412653 | Not yet recruiting | Phase 2 | Prospective Pilot Trial to Address Feasibility and Safety of Oral Zinc in GNAO1 Associated Disorders | June 2024 | March 2026 |
| NCT05612464 | Not yet recruiting | Enhancing Sensorimotor Processing in Children With Dystonia | February 1, 2023 | February 1, 2028 | |
| NCT06038097 | Not yet recruiting | N/A | Efficacy and Safety of Radiofrequency Pallidotomy in the Management of Dystonia | October 1, 2023 | March 31, 2027 |
| NCT06174948 | Not yet recruiting | N/A | The Use of the CUE1 in People With Parkinson's Disease and Related Disorders | March 2024 | December 2025 |
| NCT06352268 | Not yet recruiting | Lesioning Procedures for Movement Disorders | April 15, 2024 | December 31, 2028 | |
| NCT06386848 | Not yet recruiting | Strategy to Adapt Botulinum Toxin Doses in Dystonia | May 1, 2024 | June 1, 2024 | |
| NCT06403280 | Not yet recruiting | N/A | The Effect of Alcohol on Common Tremor Syndromes | May 2024 | April 2025 |
| NCT06411028 | Not yet recruiting | Factors Determining the Efficacy of Botulinum Toxin for Arm Tremor in Dystonia | July 1, 2024 | May 30, 2027 | |
| NCT05150093 | Recruiting | N/A | Deep Brain Stimulation in Laryngeal Dystonia and Voice Tremor | June 21, 2022 | August 31, 2026 |
| NCT04286308 | Recruiting | N/A | Cortical-Basal Ganglia Speech Networks | October 1, 2020 | February 2026 |
| NCT00575081 | Recruiting | Physiological Brain Atlas Development | August 2006 | July 2025 | |
| NCT01581580 | Recruiting | N/A | Deep Brain Stimulation Surgery for Movement Disorders | August 17, 2011 | December 1, 2029 |
| NCT06117020 | Recruiting | Phase 1 | Single and Multiple Ascending Dose Study of MTR-601 in Healthy Individuals | September 11, 2023 | May 2024 |
| NCT03664609 | Recruiting | Deep Brain Stimulation (DBS) Retrospective Outcomes Study | March 12, 2019 | December 2028 | |
| NCT03428009 | Recruiting | Dystonia Genotype-Phenotype Correlation | March 1, 2018 | September 2027 | |
| NCT05097001 | Recruiting | N/A | Dystonia Image-based Programming of Stimulation: A Prospective, Randomized, Double-blind Crossover Trial | November 1, 2021 | December 2024 |
| NCT03811405 | Recruiting | N/A | Physiology, Imaging and Modeling of Essential Tremor | April 1, 2021 | June 30, 2024 |
| NCT05317390 | Recruiting | N/A | Clinical Validation of DystoniaNet Deep Learning Platform for Diagnosis of Isolated Dystonia | June 1, 2022 | April 30, 2027 |
| NCT05535556 | Recruiting | Comparison of the Electric Plasma Surgical Tool "PlasmaBlade" for Replacement of the Deep Brain Stimulation (DBS) Devices With Conventional Surgery | July 14, 2022 | February 14, 2024 | |
| NCT05663840 | Recruiting | N/A | Effects of Exercise on Dystonia Pathophysiology | October 13, 2022 | December 31, 2027 |
| NCT05713721 | Recruiting | Sensorimotor Integration in Monogenic Parkinson-dystonia Syndromes | January 1, 2023 | December 31, 2024 | |
| NCT00682513 | Recruiting | Studies of the Variable Phenotypic Presentations of Rapid-Onset Dystonia Parkinsonism and Other Movement Disorders | April 2008 | July 31, 2027 | |
| NCT05943652 | Recruiting | Observational Study on "Functional Overlay" in Patients With Movement Disorders | January 1, 2023 | June 30, 2026 | |
| NCT03992625 | Recruiting | Clinical Outcomes for Deep Brain Stimulation | January 3, 2011 | January 1, 2030 | |
| NCT05962489 | Recruiting | N/A | Sleep-specific DBS Therapy in Parkinson's Disease | June 22, 2023 | August 1, 2027 |
| NCT05965960 | Recruiting | N/A | Investigating LFP Correlates of TUS in Patients With Movement Disorders | May 18, 2023 | June 1, 2024 |
| NCT06264063 | Recruiting | N/A | Study of Behavioral Dysfunctions and Related Neuronal Correlates in Patients With Dystonia | January 10, 2024 | October 10, 2025 |
| NCT04071847 | Recruiting | Abbott DBS Post-Market Study of Outcomes for Indications Over Time | November 26, 2019 | September 2030 | |
| NCT02686125 | Recruiting | Vercise™ DBS Dystonia Prospective Study | March 7, 2016 | December 2030 | |
| NCT01823237 | Suspended | N/A | Effect of Increasing Motor Cortex Inhibition on Task Specific Dystonia | February 2013 | February 2024 |
| NCT04156022 | Terminated | Dystonia Coalition Projects | May 1, 2015 | August 1, 2017 | |
| NCT01792336 | Terminated | Transcranial Magnetic Stimulation for Focal Hand Dystonia | February 13, 2013 | February 19, 2019 | |
| NCT00895063 | Terminated | N/A | Effect of Vocal Exercise After Botulinum Toxin Injection for Spasmodic Dysphonia | December 2007 | May 2013 |
| NCT00487383 | Terminated | Brain Changes in Blepharospasm | June 12, 2007 | June 29, 2012 | |
| NCT00031369 | Terminated | Brain Anatomy in Dystonia | February 27, 2002 | March 10, 2015 | |
| NCT05214313 | Terminated | N/A | Impact of a Standardized Music Therapy Protocol on the Quality of Life of Patients With Abnormal Movements Treated With Continuous Electrical Neuromodulation | March 3, 2022 | September 14, 2023 |
| NCT03270189 | Terminated | N/A | Effect of the Visual Information Change in Functional Dystonia | September 18, 2017 | September 19, 2022 |
| NCT02982304 | Unknown status | Phase 1 | Multi-Target Pallidal and Thalamic Deep Brain Stimulation for Hemi-Dystonia | January 2015 | December 2021 |
| NCT03481491 | Unknown status | N/A | Interactions Between Striatum and Cerebellum in ADCY5 and PRRT2 Dystonias | May 4, 2018 | July 3, 2022 |
| NCT01272154 | Unknown status | N/A | Cerebellum and Cortical Plasticity: the Case of Dystonia | January 2011 | January 2014 |
| NCT00971854 | Unknown status | N/A | Alteration of Deep Brain Stimulation Parameters for Dystonia | September 2009 | February 2010 |
| NCT04080674 | Unknown status | Using DBS to Probe Basal Ganglia Dysfunction | December 1, 2019 | November 30, 2023 | |
| NCT04650958 | Unknown status | N/A | SUNDYS: A Multicenter, Randomized, Double-blind, Sham-controlled, Parallel-group Trial | January 1, 2021 | January 1, 2022 |
| NCT04810325 | Unknown status | Brain Sensing in Neurological and Psychiatric Disorders | July 1, 2021 | October 1, 2022 | |
| NCT00355927 | Unknown status | N/A | Sedation During Microelectrode Recordings Before Deep Brain Stimulation for Movement Disorders. | September 2006 | July 2008 |
| NCT05027997 | Unknown status | Phase 2 | Exploratory Study of Dipraglurant (ADX48621) for the Treatment of Patients With Blepharospasm | October 6, 2021 | December 2021 |
| NCT00331669 | Unknown status | Phase 2 | Efficacy and Safety of Deep Brain Stimulation (DBS) of the Pallidal (GPi) in Patients With Tardive Dystonia | May 2006 | December 2010 |
| NCT00142259 | Unknown status | Phase 4 | Efficacy and Safety of DBS of the GPi in Patients With Primary Generalized and Segmental Dystonia | October 2002 | August 2009 |
| NCT00272246 | Unknown status | Phase 2/Phase 3 | Bilateral Internal Pallidum Stimulation in Primary Generalized Dystonia | February 2005 | December 2007 |
| NCT00169403 | Unknown status | Phase 3 | Pallidal Stimulation in Patients With Idiopathic Generalised Dystonia | ||
| NCT02583074 | Unknown status | N/A | Clinical Trial of STN-DBS for Primary Cranial-Cervical Dystonia | September 15, 2015 | December 31, 2018 |
| NCT02470325 | Unknown status | Phase 2 | The Effects of Cannabis on Dystonia and Spasticity on Pediatric Patients | July 2015 | December 2017 |
| NCT01845883 | Unknown status | N/A | Perceptual Decision Making Under Conditions of Visual Uncertainty | April 2013 | December 2016 |
| NCT03269201 | Unknown status | Brain Network Activation in Patients With Movement Disorders | March 1, 2019 | September 15, 2022 | |
| NCT01681888 | Withdrawn | N/A | Surface EMG Biofeedback for Children With Cerebral Palsy | May 2012 | February 22, 2024 |
| NCT04707638 | Withdrawn | Neurophysiological Characteristics of Subthalamic Deep-brain Stimulation (STN-DBS) | January 1, 2021 | January 11, 2023 | |
| NCT04461730 | Withdrawn | Role of Basal Ganglia and Thalamus in Perceptual Consciousness and Metacognition | December 2021 | November 2025 | |
| NCT00608231 | Withdrawn | Phase 2/Phase 3 | Dexmedetomidine Effects on Microelectrode Recording in Deep Brain Stimulation | January 2008 | January 2012 |
| NCT04283812 | Withdrawn | N/A | New Stereotactic Frame System for Neurosurgery | January 2023 | June 2023 |
- Disase is a (Disease Ontology)
- DOID:480
- Cross Reference ID (Disease Ontology)
- ICD10CM:G24
- Cross Reference ID (Disease Ontology)
- MESH:D004421
- Cross Reference ID (Disease Ontology)
- MESH:D020821
- Cross Reference ID (Disease Ontology)
- MIM:PS128100
- Cross Reference ID (Disease Ontology)
- NCI:C34563
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:15802004
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:250068003
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0013421
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0393593
- Exact Synonym (Disease Ontology)
- dystonic disease
- HPO alt_id (Human Phenotype Ontology)
- HP:0002328
- HPO Human Phenotype ID (Human Phenotype Ontology)
- HP:0001332
- OMIM Phenotype Series Number (OMIM)
- PS128100
- ICD10 preferred id (Insert disease from ICD10)
- D0005297
- ICD10 class code (Insert disease from ICD10)
- G24
- MeSH unique ID (MeSH (Medical Subject Headings))
- D004421