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Dystonia

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181. INTEREST IN CD2, a global patient-centred study of long-term cervical dystonia treatment with botulinum toxin Full Text available with Trip Pro

INTEREST IN CD2, a global patient-centred study of long-term cervical dystonia treatment with botulinum toxin Longitudinal cohort studies provide important information about the clinical effectiveness of an intervention in the routine clinical setting, and are an opportunity to understand how a population presents for treatment and is managed.INTEREST IN CD2 (NCT01753349) is a prospective, international, 3-year, longitudinal, observational study following the course of adult idiopathic cervical (...) dystonia (CD) treated with botulinum neurotoxin type A (BoNT-A). The primary objective is to document long-term patient satisfaction with BoNT-A treatment. Here we report baseline data.This analysis includes 1036 subjects (67.4% of subjects were female; mean age was 54.7 years old; mean TWSTRS Total score was 31.7). BoNT-A injections were usually given in line with BoNT-A prescribing information. The most commonly injected muscles were splenius capitis (87.3%), sternocleidomastoid (82.6%), trapezius

2017 Journal of neurology

182. Pallidal deep brain stimulation for dystonia: a long term study. (Abstract)

Pallidal deep brain stimulation for dystonia: a long term study. Pallidal deep brain stimulation (globus pallidus internus (GPi) DBS) is the best therapeutic option for disabling isolated idiopathic (IID) and inherited (INH) dystonia. Acquired dystonia (AD) may also benefit from GPi DBS. Efficacy and safety in the long-term remained to be established.To retrospectively assess long-term clinical outcomes and safety in dystonic patients who underwent GPi DBS.Patients were videotaped and assessed (...) preoperatively and postoperatively (1-year and at last available follow-up) using the Burke-Fahn-Marsden Dystonia Rating Scale (motor score (BFMDRS-M); disability score (BFMDRS-D)).Sixty-one patients were included (follow-up 7.9±5.9 years; range 1-20.7). In IID and INH (n=37), the BFMDRS-M improved at first (20.4±24.5; p<0.00001) and last (22.2±18.2; p<0.001) follow-ups compared with preoperatively (50.5±28.0). In AD (n=19), the BFMDRS-M ameliorated at 1-year (40.8±26.5; p<0.02) and late follow-ups (44.3

2017 Neurosurgery and Psychiatry

183. Progressive deafness-dystonia due to SERAC1 mutations - a study of 67 cases. Full Text available with Trip Pro

Progressive deafness-dystonia due to SERAC1 mutations - a study of 67 cases. 3-Methylglutaconic aciduria, dystonia-deafness, hepatopathy, encephalopathy, Leigh-like syndrome (MEGDHEL) syndrome is caused by biallelic variants in SERAC1.This multicenter study addressed the course of disease for each organ system. Metabolic, neuroradiological, and genetic findings are reported.Sixty-seven individuals (39 previously unreported) from 59 families were included (age range = 5 days-33.4 years, median (...) ) and dystonia (82%, 18 months). The majority of affected individuals never learned to walk (68%). Seventy-nine percent suffered hearing loss, 58% never learned to speak, and nearly all had significant intellectual disability (88%). Magnetic resonance imaging features were accordingly homogenous, with bilateral basal ganglia involvement (98%); the characteristic "putaminal eye" was seen in 53%. The urinary marker 3-methylglutaconic aciduria was present in virtually all patients (98%). Supportive treatment

2017 Annals of Neurology

184. Botulinum toxin A for patients with orofacial dystonia: prospective, observational, single-centre study. (Abstract)

Botulinum toxin A for patients with orofacial dystonia: prospective, observational, single-centre study. The objective of this study was to demonstrate the efficacy of intramuscular botulinum toxin type A (BTX-A) as a method of controlling the symptoms of focal facial dystonia. A prospective, longitudinal, observational, pre-post (case-series) single-centre study was conducted over a period of 3 months, involving 30 patients with focal dystonia. The patients were enrolled on a first-come, first (...) of P<0.05. The average age of the study subjects was 70.9±12.7years (20 female, 10 male). The mean dose of BTX-A used was 27.4±20.5U. The mean improvement in AIMS score after treatment was 5.2±4.2. A significant correlation was found between the dose applied and the reduction in AIMS score (P<0.05). BTX-A can be used in the treatment of focal dystonia and provides reproducible results.Copyright © 2017 International Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All

2017 International Journal of Oral and Maxillofacial Surgery

185. Hypermanganesemia with dystonia, polycythemia and cirrhosis in 10 patients: Six novel SLC30A10 mutations and further phenotype delineation. (Abstract)

Hypermanganesemia with dystonia, polycythemia and cirrhosis in 10 patients: Six novel SLC30A10 mutations and further phenotype delineation. Biallelic mutations in the SLC30A10 gene cause an inborn error of Mn metabolism characterized by hypermanganesemia, polycythemia, early-onset dystonia, and liver cirrhosis (HMDPC). To date, only 14 families from various ethnic groups have been reported. Here, we describe 10 patients from 7 unrelated Egyptian families with HMDPC. Markedly elevated blood Mn

2017 Clinical Genetics

186. Phenomenology, genetics, and CNS network abnormalities in laryngeal dystonia: A 30-year experience. Full Text available with Trip Pro

Phenomenology, genetics, and CNS network abnormalities in laryngeal dystonia: A 30-year experience. Laryngeal dystonia (LD) is a functionally specific disorder of the afferent-efferent motor coordination system producing action-induced muscle contraction with a varied phenomenology. This report of long-term studies aims to review and better define the phenomenology and central nervous system abnormalities of this disorder and improve diagnosis and treatment.Our studies categorized over 1,400 (...) patients diagnosed with LD over the past 33 years, including demographic and medical history records and their phenomenological presentations. Patients were grouped on clinical phenotype (adductor or abductor) and genotype (sporadic and familial) and with DNA analysis and functional magnetic resonance imaging (fMRI) to investigate brain organization differences and characterize neural markers for genotype/phenotype categorization. A number of patients with alcohol-sensitive dystonia were also studied.A

2017 Laryngoscope

187. Deep brain stimulation for monogenic dystonia. (Abstract)

Deep brain stimulation for monogenic dystonia. Deep brain stimulation (DBS) has recently emerged as an important management option in children with medically refractory dystonia. DBS is most commonly used, best studied, and thought to be most efficacious for a select group of childhood or adolescent onset monogenic dystonias (designated with a standard 'DYT' prefix). We review how to clinically recognize these types of dystonia and the relative efficacy of DBS for key monogenic dystonias.Though (...) used for dystonia in adults for several years, DBS has only lately been used in children. Recent evidence shows that patients with shorter duration of dystonia often experience greater benefit following DBS. This suggests that early recognition of the appropriate dystonic phenotypes and consideration of DBS in these patients may improve the management of dystonia.DBS should be considered early in patients who have medically refractory dystonia, especially for the monogenic dystonias that have

2017 Current Opinion in Pediatrics

188. Parkinsonism without dopamine neuron degeneration in aged l-dopa-responsive dystonia knockin mice. Full Text available with Trip Pro

Parkinsonism without dopamine neuron degeneration in aged l-dopa-responsive dystonia knockin mice. Recent neuroimaging studies implicate nigrostriatal degeneration as a critical factor in producing late-onset parkinsonism in patients with l-dopa-responsive dystonia-causing mutations. However, postmortem anatomical studies do not reveal neurodegeneration in l-dopa-responsive dystonia patients. These contrasting findings make it unclear how parkinsonism develops in l-dopa-responsive dystonia (...) mutation carriers.We prospectively assessed motor dysfunction, responses to dopaminergic challenge, and dopamine neuron degeneration with aging in a validated knockin mouse model bearing a l-dopa-responsive dystonia-causing mutation found in humans.As l-dopa-responsive dystonia mice aged, dystonic movements waned while locomotor activity decreased and initiation of movements slowed. Despite the age-related reduction in movement, there was no evidence for degeneration of midbrain dopamine neurons

2017 Movement Disorders

189. Identification and measurement of dystonia in cerebral palsy. Full Text available with Trip Pro

Identification and measurement of dystonia in cerebral palsy. To establish the prevalence and severity of dystonia in a population of children with cerebral palsy (CP) with hypertonia assessment and measurement tools.A cross-sectional study of 151 children (84 males, 67 females) with CP who were assessed with the Hypertonia Assessment Tool (HAT) and Barry-Albright Dystonia scale (BAD) for identification and measurement of severity of dystonia. HAT dystonia items were assessed for construct (...) and convergent validity.Distribution by predominant motor type (PMT) was: 85% spastic, 14% dyskinetic, and 1% ataxic. Spastic and dyskinetic groups showed widespread evidence of dystonia according to HAT profiles and BAD scores. The dyskinetic PMT group had a higher mean BAD score than the spastic group (difference of 13 units, 95% CI 9.1-16.4). Dystonia severity (BAD score) increased linearly across gross motor (p<0.001), manual ability (p<0.001) and communication functional levels (p<0.001). Divergence

2017 Developmental Medicine and Child Neurology

190. Thalamic deep brain stimulation for tremor in Parkinson disease, essential tremor, and dystonia. (Abstract)

Thalamic deep brain stimulation for tremor in Parkinson disease, essential tremor, and dystonia. To report on the long-term outcomes of deep brain stimulation (DBS) of the thalamic ventral intermediate nucleus (VIM) in Parkinson disease (PD), essential tremor (ET), and dystonic tremor.One hundred fifty-nine patients with PD, ET, and dystonia underwent VIM DBS due to refractory tremor at the Grenoble University Hospital. The primary outcome was a change in the tremor scores at 1 year after (...) % and 48% beyond 10 years, respectively; p < 0.05). There was no significant loss of stimulation benefit over time (p > 0.05). Patients with dystonia exhibited a moderate response at 1-year follow-up (41% tremor improvement, p = 0.027), which was not sustained after 5 years (30% improvement, p = 0.109). The more dorsal active contacts' coordinates in the right lead were related to a better outcome 1 year after surgery (p = 0.029). During the whole follow-up, forty-eight patients (49%) experienced minor

2017 Neurology

191. Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability. (Abstract)

Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability. Autosomal recessive mutations in DNAJC12, encoding a cochaperone of HSP70 with hitherto unknown function, were recently described to lead to hyperphenylalaninemia, central monoamine neurotransmitter (dopamine and serotonin) deficiency, dystonia and intellectual disability in six subjects affected by homozygous variants.Patients exhibiting

2017 Journal of Medical Genetics

192. It's not just the basal ganglia: Cerebellum as a target for dystonia therapeutics. Full Text available with Trip Pro

It's not just the basal ganglia: Cerebellum as a target for dystonia therapeutics. Dystonia is a common movement disorder that devastates the lives of many patients, but the etiology of this disorder remains poorly understood. Dystonia has traditionally been considered a disorder of the basal ganglia. However, growing evidence suggests that the cerebellum may be involved in certain types of dystonia, raising several questions. Can different types of dystonia be classified as either a basal (...) ganglia disorder or a cerebellar disorder? Is dystonia a network disorder that involves the cerebellum and basal ganglia? If dystonia is a network disorder, how can we target treatments to alleviate symptoms in patients? A recent study by Chen et al, using the pharmacological mouse model of rapid-onset dystonia parkinsonism, has provided some insight into these important questions. They showed that the cerebellum can directly modulate basal ganglia activity through a short latency cerebello-thalamo

2017 Movement Disorders

193. Alcohol improves cerebellar-learning deficit in myoclonus-dystonia - a clinical and electrophysiological investigation. (Abstract)

Alcohol improves cerebellar-learning deficit in myoclonus-dystonia - a clinical and electrophysiological investigation. To characterize neurophysiological subcortical abnormalities in myoclonus-dystonia and their modulation by alcohol administration.Cerebellar associative learning and basal ganglia-brainstem interaction were investigated in 17 myoclonus-dystonia patients with epsilon-sarcoglycan (SGCE) gene mutation and 21 age- and sex-matched healthy controls by means of classical eyeblink (...) conditioning and blink reflex recovery cycle before and after alcohol intake resulting in a breath alcohol concentration of 0.08% (0.8g/l). The alcohol responsiveness of clinical symptoms was evaluated by 3 blinded raters with a standardized video protocol and clinical rating scales including the Unified Myoclonus Rating Scale and the Burke-Fahn-Marsden Dystonia Rating Scale.Patients showed a significantly reduced number of conditioned eyeblink responses before alcohol administration compared to controls

2017 Annals of Neurology

194. Enhanced mu opioid receptor-dependent opioidergic modulation of striatal cholinergic transmission in DYT1 dystonia. (Abstract)

Enhanced mu opioid receptor-dependent opioidergic modulation of striatal cholinergic transmission in DYT1 dystonia. Mu opioid receptor activation modulates acetylcholine release in the dorsal striatum, an area deeply involved in motor function, habit formation, and reinforcement learning as well as in the pathophysiology of different movement disorders, such as dystonia. Although the role of opioids in drug reward and addiction is well established, their involvement in motor dysfunction remains (...) largely unexplored.We used a multidisciplinary approach to investigate the responses to mu activation in 2 mouse models of DYT1 dystonia (Tor1a+/Δgag mice, Tor1a+/- torsinA null mice, and their respective wild-types). We performed electrophysiological recordings to characterize the pharmacological effects of receptor activation in cholinergic interneurons as well as the underlying ionic currents. In addition, an analysis of the receptor expression was performed both at the protein and mRNA level.In

2017 Movement Disorders

195. A localized pallidal physiomarker in cervical dystonia. (Abstract)

A localized pallidal physiomarker in cervical dystonia. Deep brain stimulation (DBS) allows for direct recordings of neuronal activity from the human basal ganglia. In Parkinson's disease, a disease-specific physiomarker was identified that is now used to investigate adaptive closed-loop stimulation in first studies. In dystonia, such a physiomarker is missing.Pallidal oscillations were recorded from 153 contact pairs in 27 patients. We investigated whether power amplitudes in theta and beta (...) dystonia and may be a useful biomarker for adaptive closed-loop stimulation. Furthermore, theta oscillatory activity may have a predictive value for the clinical benefit after chronic DBS that could be used to improve intraoperative neurophysiological target mapping during electrode implantation. Ann Neurol 2017;82:912-924.© 2017 American Neurological Association.

2017 Annals of Neurology

196. Motor sequence awareness in impaired in dystonia despite normal performance. Full Text available with Trip Pro

Motor sequence awareness in impaired in dystonia despite normal performance. Dystonia is a movement disorder that has been associated with impaired motor learning and sequence recognition. However, despite evidence that patients with dystonia have a reduced sense of agency, it is unclear whether dystonia is specifically associated with impaired recognition of a movement sequence. We have shown previously that performance consistency in the temporal and kinematic domains predicts awareness (...) of underlying motor patterns in a finger-tapping task. Since movements in dystonia are characterized by high variability, we predicted that subjects with dystonia would have decreased motor sequence awareness.Subjects with dystonia (n = 20) and healthy control adults (n = 30) performed finger-tapping sequences with a common motor pattern and changing stimulus-to-response mappings. Subjects were said to be "aware" of the motor pattern if they recognized that their fingers moved in the same order during each

2017 Annals of Neurology

197. Dysfunction in emotion processing underlies functional (psychogenic) dystonia. Full Text available with Trip Pro

Dysfunction in emotion processing underlies functional (psychogenic) dystonia. We sought to determine whether abnormalities in emotion processing underlie functional (psychogenic) dystonia, one of the most common functional movement disorders.Motor and emotion circuits were examined in 12 participants with functional dystonia, 12 with primary organic dystonia, and 25 healthy controls using functional magnetic resonance imaging at 4T and a finger-tapping task (motor task), a basic emotion (...) -recognition task (emotional faces task), and an intense-emotion stimuli task.There were no differences in motor task activation between groups. In the faces task, when compared with the other groups, functional dystonia patients showed areas of decreased activation in the right middle temporal gyrus and bilateral precuneus and increased activation in the right inferior frontal gyrus, bilateral occipital cortex and fusiform gyrus, and bilateral cerebellum. In the intense-emotion task, when compared

2017 Movement Disorders

198. The direct basal ganglia pathway is hyperfunctional in focal dystonia. Full Text available with Trip Pro

The direct basal ganglia pathway is hyperfunctional in focal dystonia. 29087445 2018 12 02 1460-2156 140 12 2017 Dec 01 Brain : a journal of neurology Brain The direct basal ganglia pathway is hyperfunctional in focal dystonia. 3179-3190 10.1093/brain/awx263 Simonyan Kristina K Department of Otolaryngology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA. Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Cho Hyun H Human Motor (...) and Stroke, National Institutes of Health, Bethesda, MD, USA. eng R01 DC011805 DC NIDCD NIH HHS United States Journal Article England Brain 0372537 0006-8950 dopamine laryngeal dystonia writer’s cramp 2017 05 11 2017 08 20 2017 11 1 6 0 2017 11 1 6 0 2017 11 1 6 0 ppublish 29087445 4566108 10.1093/brain/awx263 PMC5841143 Brain. 2006 Oct;129(Pt 10):2697-708 16854945 Laryngoscope. 2017 Jun;127(6):1402-1407 27808415 J Neurol Neurosurg Psychiatry. 2007 Mar;78(3):264-70 17185301 Curr Opin Neurol. 1998 Aug;11

2017 Brain

199. Pathogenesis of dystonia: is it of cerebellar or basal ganglia origin? Full Text available with Trip Pro

Pathogenesis of dystonia: is it of cerebellar or basal ganglia origin? Dystonia is a disorder of motor programmes controlling semiautomatic movements or postures, with clinical features such as sensory trick, which suggests sensorimotor mismatch as the basis. Dystonia was originally classified as a basal ganglia disease. It is now regarded as a 'network' disorder including the cerebellum, but the exact pathogenesis being unknown. Rare autopsy studies have found pathology both in the striatum (...) and the cerebellum, and functional disorganisation was reported in the somatosensory cortex in patients. Recent animal studies showed physiologically tight disynaptic connections between the cerebellum and the striatum. We review clinical evidence in light of this new functional interaction between the cerebellum and basal ganglia, and put forward a hypothesis that dystonia is a basal ganglia disorder that can be induced by aberrant afferent inputs from the cerebellum.© Article author(s) (or their employer(s

2017 Neurosurgery and Psychiatry

200. Transcranial Electrical Stimulation for Cervical Dystonia

Transcranial Electrical Stimulation for Cervical Dystonia Transcranial Electrical Stimulation for Cervical Dystonia - 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. Transcranial Electrical Stimulation (...) for Cervical Dystonia 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. of clinical studies and talk to your health care provider before participating. Read our for details. ClinicalTrials.gov Identifier: NCT03369613 Recruitment Status : Recruiting First Posted : December 12, 2017 Last Update Posted : December 27, 2018 See Sponsor: University of Colorado, Denver

2017 Clinical Trials

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