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Dystonia

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121. Exploratory structural assessment in craniocervical dystonia: Global and differential analyses. Full Text available with Trip Pro

Exploratory structural assessment in craniocervical dystonia: Global and differential analyses. Our goal was to investigate the cortical thickness and subcortical volume in subjects with craniocervical dystonia and its subgroups.We studied 49 subjects, 17 with cervical dystonia, 18 with blepharospasm or oromandibular dystonia, and 79 healthy controls. We performed a whole group analysis, followed by a subgroup analysis. We used Freesurfer software to measure cortical thickness, subcortical (...) volume and to perform a primary exploratory analysis in the craniocervical dystonia group, complemented by a region of interest analysis. We also performed a secondary analysis, with data generated from Freesurfer for subgroups, corrected by false discovery rate. We then performed an exploratory generalized linear model with significant areas for the previous steps using clinical features as independent variables.The primary exploratory analysis demonstrated atrophy in visual processing regions

2017 PLoS ONE

122. Physiological effects of subthalamic nucleus deep brain stimulation surgery in cervical dystonia. (Abstract)

Physiological effects of subthalamic nucleus deep brain stimulation surgery in cervical dystonia. Subthalamic nucleus deep brain stimulation (STN DBS) surgery is clinically effective for treatment of cervical dystonia; however, the underlying physiology has not been examined. We used transcranial magnetic stimulation (TMS) to examine the effects of STN DBS on sensorimotor integration, sensorimotor plasticity and motor cortex excitability, which are identified as the key pathophysiological

2018 Neurosurgery and Psychiatry

123. Unilateral pallidal stimulation for disabling dystonia due to Rasmussen's disease. (Abstract)

Unilateral pallidal stimulation for disabling dystonia due to Rasmussen's disease. To describe an adult patient with Rasmussen's disease with focal dystonia as the most disabling symptom and the good response to unilateral globus pallidus internus (GPi) deep brain stimulation (DBS).Retrospective review of clinical records and diagnostic tests.The patient had displayedmild focal seizures with sensory and motor symptoms on the left arm and hemiface since the age of 22. Ten years later she (...) experienced abrupt onset of focal left dystonia involving mainly the leg. Brain MRI showed progressive right hemisphere atrophy, and  18 fluorodeoxyglucose-positron emission tomography (18FDG-PET) showed right hypometabolism mainly over the frontal and insular regions. Brain biopsy confirmed chronic encephalitis. The dystonia became very severe and made walking extremely difficult. Different treatments including dopaminergic, anticholinergic, immunomodulatory drugs and botulinum toxin were ineffective

2018 Neurosurgery and Psychiatry

124. Deep brain stimulation treated dystonia-trajectory via status dystonicus. (Abstract)

Deep brain stimulation treated dystonia-trajectory via status dystonicus. Status dystonicus (SD) is a life-threatening condition.In a dystonia cohort who developed status dystonicus, we analyzed demographics, background dystonia phenomenology and complexity, trajectory previous to-, via status dystonicus episodes, and evolution following them.Over 20 years, 40 of 328 dystonia patients who were receiving DBS developed 58 status dystonicus episodes. Dystonia was of pediatric onset (95

2018 Movement Disorders

125. Pain processing in functional and idiopathic dystonia: An exploratory study. Full Text available with Trip Pro

Pain processing in functional and idiopathic dystonia: An exploratory study. Pain is often experienced by patients with functional dystonia and idiopathic cervical dystonia and is likely to be determined by different neural mechanisms.In this exploratory study, we tested the sensory-discriminative and cognitive-emotional component of pain in patients with functional and idiopathic dystonia.Ten patients with idiopathic cervical dystonia, 12 patients with functional dystonia, and 16 age- and sex (...) thresholds assessed in hands and feet. Pain tolerance was significantly increased in all body regions only in functional dystonia. Patients with continuous functional dystonia had higher pain tolerance compared to subjects with paroxysmal functional dystonia and idiopathic cervical dystonia. There was no correlation between pain tolerance and pain scores, depression, anxiety, disease duration, and motor disability in both groups.Patients with functional dystonia have a dissociation between the sensory

2018 Movement Disorders

126. Quantitative, clinically relevant acoustic measurements of focal embouchure dystonia. Full Text available with Trip Pro

Quantitative, clinically relevant acoustic measurements of focal embouchure dystonia. Focal embouchure dystonia impairs orofacial motor control in wind musicians and causes professional disability. A paucity of quantitative measures or rating scales impedes the objective assessment of treatment efficacy.We quantified specific features of focal embouchure dystonia using acoustic measures and developed a metric to assess severity across multiple domains of symptomatic impairment.We recruited 9 (...) brass musicians with and 6 without embouchure dystonia. The following 4 domains of symptomatic dysfunction in focal embouchure dystonia were identified: pitch inaccuracy, sound instability and tremor, sound breaks, and timing variability. Musicians performed sustained tones and sequences, and then acoustic variables within each domain were quantified. A composite brass acoustic severity score composed of these variables was validated against clinical global impressions of severity.Musicians

2018 Movement Disorders

127. Unlocking Dystonia From Parkinson's Disease With Directional DBS Technology

Unlocking Dystonia From Parkinson's Disease With Directional DBS Technology Unlocking Dystonia From Parkinson's Disease With Directional DBS Technology - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (100). Please remove one or more studies before adding more (...) . Unlocking Dystonia From Parkinson's Disease With Directional DBS Technology The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our for details. ClinicalTrials.gov Identifier: NCT03409120 Recruitment Status : Enrolling by invitation First Posted : January 24, 2018 Last Update Posted : February 7, 2019 Sponsor: University of Alabama at Birmingham Collaborator

2018 Clinical Trials

128. Impact Of Physiotherapy And Botox In Improving Functional Outcomes Among Post Stroke Focal Dystonia Patients

Impact Of Physiotherapy And Botox In Improving Functional Outcomes Among Post Stroke Focal Dystonia Patients Impact Of Physiotherapy And Botox In Improving Functional Outcomes Among Post Stroke Focal Dystonia Patients - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (...) (100). Please remove one or more studies before adding more. Impact Of Physiotherapy And Botox In Improving Functional Outcomes Among Post Stroke Focal Dystonia Patients The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our for details. ClinicalTrials.gov Identifier: NCT03664375 Recruitment Status : Completed First Posted : September 10, 2018 Last

2018 Clinical Trials

129. Pallidal beta bursts in Parkinson's disease and dystonia. (Abstract)

Pallidal beta bursts in Parkinson's disease and dystonia. Exaggerated beta power has been discussed as a disease-specific biomarker for Parkinson's disease (PD) and has recently been suggested to rely on prolonged bursts of subthalamic beta synchronization.In this study, we test whether prolonged bursts are disease specific for beta activity in PD by comparison to oscillatory activity in dystonia.Pallidal local field potentials were recorded from 5 PD patients ON and OFF dopaminergic medication (...) and 5 dystonia patients. Synchronization of beta and low-frequency oscillations in bursts was compared between groups with respect to their duration, amplitude, and rate.Pallidal beta bursts were longer in PD-OFF than PD-ON or dystonia (P < .05). PD-ON and dystonia displayed similar beta burst dynamics. Low-frequency burst features showed no differences across groups.Prolonged burst duration appears as a disease-specific feature for beta activity in PD across the basal ganglia. With dopaminergic

2018 Movement Disorders

130. High frequency somatosensory stimulation in dystonia: Evidence fordefective inhibitory plasticity. (Abstract)

High frequency somatosensory stimulation in dystonia: Evidence fordefective inhibitory plasticity. Apart from motor symptoms, multiple deficits of sensory processing have been demonstrated in dystonia. The most consistent behavioural measure of this is abnormal somatosensory temporal discrimination threshold, which has recently been associated with physiological measures of reduced inhibition within the primary somatosensory area. High-frequency repetitive sensory stimulation is a patterned (...) dystonia.Somatosensory temporal discrimination and a number of electrophysiological measures of sensorimotor inhibition and facilitation were measured before and after 45 minutes of high-frequency repetitive sensory stimulation.As compared with a group of healthy volunteers of similar age, in whom high-frequency repetitive sensory stimulation increased inhibition and shortened somatosensory temporal discrimination, patients with cervical dystonia showed a consistent, paradoxical response: they had reduced

2018 Movement Disorders

131. Treatment of focal dystonia involving multiple muscles with a single injection of botulinum toxin A to 1 muscle: A case report. Full Text available with Trip Pro

Treatment of focal dystonia involving multiple muscles with a single injection of botulinum toxin A to 1 muscle: A case report. Botulinum toxin A (BTX-A) injection is effective in treating focal dystonia. However, there are no prior reports regarding the treatment of progressive focal dystonia by a single BTX-A injection that affect a distant muscle.A 19-year-old male was referred to the rehabilitation clinic with a complaint of involuntary movement in his left big toe. The involuntary movement (...) pattern was initially observed in the abduction direction only; however, it progressed to irregular mixed patterns in the flexion and abduction directions.In needle electromyography, abnormal dystonic patterns were observed in the left abductor hallucis (AH), flexor hallucis longus, and flexor hallucis brevis muscles.These symptoms resolved with a single BTX-A injection to the AH muscle.In this case, a single BTX-A injection to 1 muscle for treating progressive focal dystonia was effective

2018 Medicine

132. Predictors of alcohol responsiveness in dystonia. Full Text available with Trip Pro

Predictors of alcohol responsiveness in dystonia. To determine predictors of alcohol responsiveness in a large cohort of patients with dystonia.A total of 2,159 participants with dystonia were prospectively enrolled in the cross-sectional Dystonia Coalition multicenter study. Patients with secondary, combined, or confirmed genetic dystonia (total n = 164) or unknown alcohol responsiveness (n = 737) were excluded. Patients answered a standardized questionnaire and were clinically examined using (...) a standardized video protocol and the Burke-Fahn-Marsden Dystonia Rating Scale. Alcohol responsiveness was determined by patients' self-report.A total of 1,258 patients with isolated dystonia (mean age: 59.5 ± 12.2 years; 898 women) met the inclusion criteria; 369 patients (29.3%) reported improvement of dystonia after alcohol consumption. Alcohol responsiveness was not related to sex (p = 0.742), age (p = 0.715), or severity of dystonia (p = 0.623). Age at onset was lower in patients who responded

2018 Neurology

133. Delineating cerebellar mechanisms in DYT11 myoclonus-dystonia. Full Text available with Trip Pro

Delineating cerebellar mechanisms in DYT11 myoclonus-dystonia. Recent research has highlighted the role of the cerebellum in the pathophysiology of myoclonus-dystonia syndrome as a result of mutations in the ɛ-sarcoglycan gene (DYT11). Specifically, a cerebellar-dependent saccadic adaptation task is dramatically impaired in this patient group.The objective of this study was to investigate whether saccadic deficits coexist with impairments of limb adaptation to provide a potential mechanism

2018 Movement Disorders

134. Abnormal sensory gating in patients with different types of focal dystonias. (Abstract)

Abnormal sensory gating in patients with different types of focal dystonias. Movement execution in healthy individuals increases the somatosensory temporal discrimination threshold. These changes are a result of mechanisms of sensory gating at the subcortical level. Although the somatosensory temporal discrimination threshold is abnormally increased in patients with focal dystonias, the effect of movement execution on somatosensory temporal discrimination in dystonic patients is unknown.The (...) objective of this study was to determine whether somatosensory temporal discrimination threshold modulation induced by voluntary movement is normal in different forms of focal dystonia.We enrolled 71 dystonic patients (24 with blepharospasm, 31 with cervical dystonia, and 16 with focal hand dystonia) and 39 age-matched healthy participants. Paired stimuli for the somatosensory temporal discrimination threshold were triggered by movement execution at movement onset and at various time intervals

2018 Movement Disorders

135. Compound heterozygous mutations in the TH gene in a Chinese family with autosomal-recessive dopa-responsive dystonia: A case report. Full Text available with Trip Pro

Compound heterozygous mutations in the TH gene in a Chinese family with autosomal-recessive dopa-responsive dystonia: A case report. Autosomal-recessive dopa-responsive dystonia (DRD) is a rare clinical disorder presenting as bradykinesia, dystonia, tremor and even severe encephalopathy, and caused by tyrosine hydroxylase deficiency (THD). We report a case of compound heterozygous mutations in the TH gene in a Chinese family with autosomal-recessive DRD herein.A 16-month-old Chinese boy (...) presented with symptoms of movement disorder and growth retardation in his infant period.The genetic test revealed compound heterozygous mutations in the TH gene at c.457C>T and c.698G>A, which are pathogenic of DRD.The patient was administrated low-dose levodopa.The treatment resulted in the substantial improvement of dystonia. His long-term neurological outcome need follow-up for years.Gene mutation analysis is helpful and necessary to diagnose DRD and has important guiding significance

2018 Medicine

136. Chemodenervation for the Treatment of Facial Dystonia: A Report by the American Academy of Ophthalmology. (Abstract)

Chemodenervation for the Treatment of Facial Dystonia: A Report by the American Academy of Ophthalmology. To review the medical literature on the outcomes and complications of various Food and Drug Administration-approved botulinum toxins for benign essential blepharospasm (BEB) and hemifacial spasm (HFS).Literature searches were last conducted in February 2017 in PubMed for articles published in English and in the Cochrane Library database without language limitations; studies published before (...) in more adverse events. Repeated treatments using Botox seem to maintain efficacy for treatment of facial dystonias over a follow-up period of at least 10 years, based on level III evidence.Copyright © 2018 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.

2018 Ophthalmology

137. Pedunculopontine nucleus cholinergic deficiency in cervical dystonia. (Abstract)

Pedunculopontine nucleus cholinergic deficiency in cervical dystonia. The etiology of cervical dystonia is unknown. Cholinergic abnormalities have been identified in dystonia animal models and human imaging studies. Some animal models have cholinergic neuronal loss in the striatum and increased acetylcholinesterase activity in the pedunculopontine nucleus.The objective of this study was to determine the presence of cholinergic abnormalities in the putamen and pedunculopontine nucleus (...) in cervical dystonia human brain donors.Formalin-fixed brain tissues were obtained from 8 cervical dystonia and 7 age-matched control brains (controls). Pedunculopontine nucleus was available in only 6 cervical dystonia and 5 controls. Neurodegeneration was evaluated pathologically in the putamen, pedunculopontine nucleus, and other regions. Cholinergic neurons were detected using choline acetyltransferase immunohistochemistry in the putamen and pedunculopontine nucleus. Putaminal cholinergic neurons were

2018 Movement Disorders

138. Association of Pallidal Neurostimulation and Outcome Predictors With X-linked Dystonia Parkinsonism. Full Text available with Trip Pro

Association of Pallidal Neurostimulation and Outcome Predictors With X-linked Dystonia Parkinsonism. Anecdotal evidence suggests that deep brain stimulation (DBS) of the internal globus pallidus (GPi) is effective in ameliorating dystonia in X-linked dystonia parkinsonism (XDP), a disease that is usually refractive to medical therapy.To determine the efficacy of GPi-DBS in a cohort of patients with XDP in a prospective study and identify predictors of postoperative outcomes.This observational (...) prospective cohort study enrolled patients in February 2013 and was completed in December 2014. The patients were followed up for up to 46 months. Patients from the Philippines were treated in a single center in Lübeck, Germany and followed up in the Philippines. Sixteen men with XDP (mean [SD] age, 40.9 [7.3] years; disease duration, 1-6 years) from the Philippines with predominant dystonia were selected.All patients underwent bilateral GPi-DBS in Lübeck, Germany.Clinical assessment included the motor

2018 JAMA neurology

139. Benefits of pallidal stimulation in dystonia are linked to cerebellar volume and cortical inhibition Full Text available with Trip Pro

Benefits of pallidal stimulation in dystonia are linked to cerebellar volume and cortical inhibition Clinical benefits of pallidal deep brain stimulation (GPi DBS) in dystonia increase relatively slowly suggesting slow plastic processes in the motor network. Twenty-two patients with dystonia of various distribution and etiology treated by chronic GPi DBS and 22 healthy subjects were examined for short-latency intracortical inhibition of the motor cortex elicited by paired transcranial magnetic (...) with the improvement of intracortical inhibition which was generally less effective in patients than in controls regardless of the DBS states. Importantly, good responders to GPi DBS showed a similar level of short-latency intracortical inhibition in the motor cortex as healthy controls whereas non-responders were unable to increase it. All these results support the multilevel impact of effective DBS on the motor networks in dystonia and suggest potential biomarkers of responsiveness to this treatment.

2018 Scientific reports

140. Correction to: Medical treatment of dystonia Full Text available with Trip Pro

Correction to: Medical treatment of dystonia [This corrects the article DOI: 10.1186/s40734-016-0047-6.].

2018 Journal of clinical movement disorders

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