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Dystonia

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61. Fatigue, Sleep Disturbances, and Their Influence on Quality of Life in Cervical Dystonia Patients (PubMed)

Fatigue, Sleep Disturbances, and Their Influence on Quality of Life in Cervical Dystonia Patients Nonmotor symptoms (NMS) are highly prevalent in cervical dystonia (CD). In general, fatigue and sleep are important NMS that determine a decreased health-related quality of life (HR-QoL), but their influence in CD is unknown. The authors systematically investigated fatigue, excessive daytime sleepiness (EDS), and sleep quality in patients with CD and controls and assessed the influence (...) of psychiatric comorbidity, pain, and dystonia motor severity. They also examined the predictors of HR-QoL.The study included 44 patients with CD and 43 matched controls. Fatigue, EDS, and sleep quality were assessed with quantitative questionnaires and corrected for depression and anxiety using analysis of covariance. The Toronto Western Spasmodic Torticollis Rating Scale and the Clinical Global Impression Scale-jerks/tremor subscale were used to score motor severity and to assess whether motor

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2016 Movement disorders clinical practice

62. A Systematic Review of Treatment Outcome in Patients with Dopa‐responsive Dystonia (DRD) and DRD‐Plus (PubMed)

A Systematic Review of Treatment Outcome in Patients with Dopa‐responsive Dystonia (DRD) and DRD‐Plus Dopa-responsive dystonia (DRD) and DRD-plus are inherited metabolic disorders of the dopamine synthetic pathway that have considerable clinical, biochemical, and genetic heterogeneity. Dopamine is the main deficient neurotransmitter; however, a deficiency in norepinephrine and serotonin can coexist, depending on the gene and its degree of defect. Therefore, even though levodopa

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2016 Movement disorders clinical practice

63. High Botulinum Toxin‐Neutralizing Antibody Prevalence Under Long‐Term Cervical Dystonia Treatment (PubMed)

High Botulinum Toxin‐Neutralizing Antibody Prevalence Under Long‐Term Cervical Dystonia Treatment The aim of this study was to determine the prevalence of neutralizing antibodies in a large cohort of long-term treated patients with cervical dystonia (CD) still responding to repetitive injections with botulinum toxin (BoNT).Consecutively recruited CD patients (n = 221) under long-term BoNT treatment (≥2-21 years) underwent a clinical examination at the same time blood samples were taken

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2016 Movement disorders clinical practice

64. A 500 U/2 mL dilution of abobotulinumtoxinA vs. placebo: randomized study in cervical dystonia. (PubMed)

A 500 U/2 mL dilution of abobotulinumtoxinA vs. placebo: randomized study in cervical dystonia. Purpose/aim: AbobotulinumtoxinA (Dysport®, Ipsen Biopharmaceuticals, Inc., Basking Ridge, NJ, USA) is an acetylcholine release inhibitor and a neuromuscular blocking agent. The United States prescribing information for abobotulinumtoxinA previously indicated only one dilution for cervical dystonia: 500 U/1 mL. Clinical trial data supporting a larger volume with a 500 U/2 mL dilution would offer (...) clinicians flexibility with injection volume to better meet patient needs.We conducted a 12-week, phase 3b, multicenter, randomized, double-blind, placebo-controlled trial (NCT01753310). Adult subjects with a primary diagnosis of cervical dystonia were randomized (2:1) to receive a single injection of either abobotulinumtoxinA, 500 U/2 mL dilution, or placebo. The primary efficacy endpoint was changed from baseline in Toronto Western Spasmodic Torticollis Rating Scale total score at Week 4.A total of 134

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2018 The International journal of neuroscience

65. Personalized botulinum toxin type A therapy for cervical dystonia based on kinematic guidance. (PubMed)

Personalized botulinum toxin type A therapy for cervical dystonia based on kinematic guidance. Botulinum toxin type A (BoNT-A) injections is the accepted first-line therapy for cervical dystonia (CD), however, numerous patients discontinue treatment early due to perceived sub-optimal relief. To improve BoNT-A therapy for CD, proper assessment of neck motion and selection of relevant muscles and dosing must be met. Kinematic technology may improve treatment outcomes by guiding physicians

2018 Journal of neurology

66. Inhibitory rTMS applied on somatosensory cortex in Wilson's disease patients with hand dystonia. (PubMed)

Inhibitory rTMS applied on somatosensory cortex in Wilson's disease patients with hand dystonia. Hand dystonia is a common complication of Wilson's disease (WD), responsible for handwriting difficulties and disability. Alteration of sensorimotor integration and overactivity of the somatosensory cortex have been demonstrated in dystonia. This study investigated the immediate after effect of an inhibitory repetitive transcranial magnetic stimulation (rTMS) applied over the somatosensory cortex (...) on the writing function in WD patients with hand dystonia. We performed a pilot prospective randomized double-blind sham-controlled crossover rTMS study. A 20-min 1-Hz rTMS session, stereotaxically guided, was applied over the left somatosensory cortex in 13 WD patients with right dystonic writer's cramp. After 3 days, each patient was crossed-over to the alternative treatment. Patients were clinically evaluated before and immediately after each rTMS session with the Unified Wilson's Disease rating scale

2018 Journal of neural transmission (Vienna, Austria : 1996)

67. Incobotulinum toxin A in Parkinson's disease with foot dystonia: A double blind randomized trial. (PubMed)

Incobotulinum toxin A in Parkinson's disease with foot dystonia: A double blind randomized trial. Plantar flexion of toe dystonia is very painful and leads to difficulties in walking. The objective of this study was to investigate the effect of incobotulinum toxin A (Xeomin) in the treatment of this type of dystonia in parkinsonian patients, using a randomized, double blind, placebo-controlled trial.45 parkinsonian patients with painful dystonic plantar flexion of toes were injected either (...) with an interval of 3 months. The primary endpoint was measured six weeks after injections with the Clinical Global Impression (CGI) of change. Dystonia severity and associated pain were also assessed.Mean CGI was improved in the Btx group compared to the placebo group (P = 0.039). A significant reduction of pain and dystonia severity were observed in patients treated with Btx compared to baseline but no improvement was noted when compared to placebo group. No difference of efficacy was highlighted between

2018 Parkinsonism & related disorders

68. Quality of life improvements in patients with cervical dystonia following treatment with a liquid formulation of abobotulinumtoxinA (Dysport (PubMed)

Quality of life improvements in patients with cervical dystonia following treatment with a liquid formulation of abobotulinumtoxinA (Dysport In patients with cervical dystonia, abobotulinumtoxinA solution for injection (ASI) has been shown to be similarly effective to freeze-dried abobotulinumtoxinA in reducing Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS) total scores. In this secondary analysis, quality of life data as evaluated with the Cervical Dystonia Impact Profile (CDIP-58

2018 European Journal of Neurology

69. The effects of a relaxation program featuring aquatic therapy and autogenic training among people with cervical dystonia (a pilot study). (PubMed)

The effects of a relaxation program featuring aquatic therapy and autogenic training among people with cervical dystonia (a pilot study). Classic physical interventions for cervical dystonia (CD) have focused on treating motor components or, on motor components and relaxation programs. However, no CD treatment study has focused on a relaxation program alone. We developed a pilot study to assess whether a therapy completely based on a relaxation program could improve the physical and mental

2018 Physiotherapy theory and practice

70. Effect of botulinum toxin A & task-specific training on upper limb function in post-stroke focal dystonia. (PubMed)

Effect of botulinum toxin A & task-specific training on upper limb function in post-stroke focal dystonia. To determine the effect of botulinum toxin A and task-specific training on upper limb function in post-stroke focal dystonia patients.A randomised control trial was conducted at hospitals in Rawalpindi and Islamabad, Pakistan, from October 2015 to September 2016. The subjects were recruited using non-probability purposive sampling and were divided equally into control and experimental (...) in post-stroke focal dystonia patients.

2018 JPMA. The Journal of the Pakistan Medical Association

71. Lack of efficacy of levetiracetam in oromandibular and cranial dystonia. (PubMed)

Lack of efficacy of levetiracetam in oromandibular and cranial dystonia. To determine the efficacy of levetiracetam in oromandibular or cranial dystonia.We recruited seven subjects with oromandibular or cranial dystonia. Five completed the study, median age was 71 years (range 42-79 years), median disease duration was 12 years (range 2-30 years). Participants were randomized to receive levetiracetam or placebo and were then crossed over. They titrated up to a total daily dose of 4000 mg (...) or the maximum tolerated dose over 3 weeks and maintained that dose for another 3 weeks. The primary endpoint was the percent change of the eyes, mouth, speech, and swallowing Burke-Fahn-Marsden (BFM) subscores from baseline to weeks 6 and 14. Additional endpoints included the BFM subscore at weeks 3 and 11, and the global dystonia severity (GDS) subscore at weeks 3, 6, 11, and 14, as well as all adverse side effects.The mean percent increase in the BFM subscore (placebo: 31.25%, levetiracetam: 12.16

2018 Acta neurologica Scandinavica

72. Association of Pallidal Neurostimulation and Outcome Predictors With X-linked Dystonia Parkinsonism. (PubMed)

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

73. Striatal Cholinergic Interneurons in a Knock-in Mouse Model of L-DOPA-Responsive Dystonia (PubMed)

Striatal Cholinergic Interneurons in a Knock-in Mouse Model of L-DOPA-Responsive Dystonia Striatal cholinergic dysfunction is a common phenotype associated with various forms of dystonia in which anti-cholinergic drugs have some therapeutic benefits. However, the underlying substrate of striatal cholinergic defects in dystonia remain poorly understood. In this study, we used a recently developed knock-in mouse model of dopamine-responsive dystonia (DRD) with strong symptomatic responses to anti (...) -cholinergic drugs, to assess changes in the prevalence and morphology of striatal cholinergic interneurons (ChIs) in a model of generalized dystonia. Unbiased stereological neuronal counts and Sholl analysis were used to address these issues. To determine the potential effect of aging on the number of ChIs, both young (3 months old) and aged (15 months old) mice were used. For purpose of comparisons with ChIs, the number of GABAergic parvalbumin (PV)-immunoreactive striatal interneurons was also

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2018 Frontiers in systems neuroscience

74. Changes in sensorimotor network activation after botulinum toxin type A injections in patients with cervical dystonia: a functional MRI study (PubMed)

Changes in sensorimotor network activation after botulinum toxin type A injections in patients with cervical dystonia: a functional MRI study Botulinum toxin type A (BoNT) is considered an effective therapeutic option in cervical dystonia (CD). The pathophysiology of CD and other focal dystonias has not yet been fully explained. Results from neurophysiological and imaging studies suggest a significant involvement of the basal ganglia and thalamus, and functional abnormalities in premotor (...) and primary sensorimotor cortical areas are considered a crucial factor in the development of focal dystonias. Twelve BoNT-naïve patients with CD were examined with functional MRI during a skilled hand motor task; the examination was repeated 4 weeks after the first BoNT injection to the dystonic neck muscles. Twelve age- and gender-matched healthy controls were examined using the same functional MRI paradigm without BoNT injection. In BoNT-naïve patients with CD, BoNT treatment was associated

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2018 Experimental Brain Research

75. The first case of deafness‐dystonia syndrome due to compound heterozygous variants in FITM2 (PubMed)

The first case of deafness‐dystonia syndrome due to compound heterozygous variants in FITM2 We report the second known family affected by deafness-dystonia syndrome associated with loss of function of FITM2. Our patient is compound heterozygous for pathogenic FITM2 variants, while affected siblings in the first report were homozygous. This case provides evidence that this novel genetic disorder is associated with autosomal recessive inheritance.

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2018 Clinical Case Reports

76. Acupuncture as Adjuvant Therapy for the Management of Cervical Dystonia (PubMed)

Acupuncture as Adjuvant Therapy for the Management of Cervical Dystonia Objectives: There are no curative treatments for cervical dystonia (CD), therefore conventional management is aimed at pain relief and muscle relaxation. Many patients with CD use complementary and integrative medicine interventions to manage symptoms, yet there are limited data on the use of acupuncture for CD. The aim of the current study was to determine the feasibility, safety, and efficacy of adjuvant acupuncture

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2018 Medical Acupuncture

77. Recent advances in understanding and managing dystonia (PubMed)

Recent advances in understanding and managing dystonia Within the field of movement disorders, the conceptual understanding of dystonia has continued to evolve. Clinical advances have included improvements in recognition of certain features of dystonia, such as tremor, and understanding of phenotypic spectrums in the genetic dystonias and dystonia terminology and classification. Progress has also been made in the understanding of underlying biological processes which characterize dystonia from (...) discoveries using approaches such as neurophysiology, functional imaging, genetics, and animal models. Important advances include the role of the cerebellum in dystonia, the concept of dystonia as an aberrant brain network disorder, additional evidence supporting the concept of dystonia endophenotypes, and new insights into psychogenic dystonia. These discoveries have begun to shape treatment approaches as, in parallel, important new treatment modalities, including magnetic resonance imaging-guided

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2018 F1000Research

78. Actual and Illusory Perception in Parkinson's Disease and Dystonia: A Narrative Review (PubMed)

Actual and Illusory Perception in Parkinson's Disease and Dystonia: A Narrative Review Sensory information is continuously processed so as to allow behavior to be adjusted according to environmental changes. Before sensory information reaches the cortex, a number of subcortical neural structures select the relevant information to send to be consciously processed. In recent decades, several studies have shown that the pathophysiological mechanisms underlying movement disorders (...) such as Parkinson's disease (PD) and dystonia involve sensory processing abnormalities related to proprioceptive and tactile information. These abnormalities emerge from psychophysical testing, mainly temporal discrimination, as well as from experimental paradigms based on bodily illusions. Although the link between proprioception and movement may be unequivocal, how temporal tactile information abnormalities and bodily illusions relate to motor disturbances in PD and dystonia is still a matter of debate

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2018 Frontiers in neurology

79. Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma (PubMed)

Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma 30046660 2018 11 14 2376-7839 4 4 2018 Aug Neurology. Genetics Neurol Genet Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma. e248 10.1212/NXG.0000000000000248 Machol Keren K Department of Molecular and Human Genetics (K.M., L.C.B., M.J., R.A.L., M.X., J.A.R., R.C., C.M.E., Y.Y., B.H.L., P.M.M., S.U.D.), Department of Neurology (J.J., D.V., P.M.M

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2018 Neurology: Genetics

80. Pedunculopontine nucleus cholinergic deficiency in cervical dystonia. (PubMed)

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

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2018 Movement Disorders

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