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Dystonia

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81. Quantitative, clinically relevant acoustic measurements of focal embouchure dystonia. (PubMed)

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

82. Physiological effects of subthalamic nucleus deep brain stimulation surgery in cervical dystonia. (PubMed)

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

83. Dystonia Genotype-Phenotype Correlation

Dystonia Genotype-Phenotype Correlation Dystonia Genotype-Phenotype Correlation - 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. Dystonia Genotype-Phenotype Correlation The safety and scientific validity (...) Information provided by (Responsible Party): University of Texas Southwestern Medical Center Study Details Study Description Go to Brief Summary: 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

2018 Clinical Trials

84. Treatment of focal dystonia involving multiple muscles with a single injection of botulinum toxin A to 1 muscle: A case report. (PubMed)

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

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2018 Medicine

85. Predictors of alcohol responsiveness in dystonia. (PubMed)

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

86. Unilateral pallidal stimulation for disabling dystonia due to Rasmussen's disease. (PubMed)

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

87. Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14. (PubMed)

Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14. Spinocerebellar ataxia type 14 is a rare form of autosomal dominant cerebellar ataxia caused by mutations in protein kinase Cγ gene. Clinically, it presents with a slowly progressive, mainly pure cerebellar ataxia.Using next generation sequencing, we screened 194 families with autosomal dominant cerebellar ataxia and normal polyglutamine repeats. In-depth phenotyping was performed using (...) with a complex ataxia comprising severe focal and/or task-induced dystonia, peripheral neuropathy, parkinsonism, myoclonus, and pyramidal syndrome. The most complex phenotype is related to a missense mutation in the catalytic domain in exon 11.We present one of the largest genetically confirmed spinocerebellar ataxia type 14 cohorts contributing novel variants and clinical characterisation. We show that although protein kinase Cγ gene mutations present mainly as slowly progressive pure ataxia, more than

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2018 Movement Disorders

88. Pharmacological and neurosurgical interventions for managing dystonia in cerebral palsy: a systematic review. (PubMed)

Pharmacological and neurosurgical interventions for managing dystonia in cerebral palsy: a systematic review. To systematically review evidence for pharmacological/neurosurgical interventions for managing dystonia in individuals with cerebral palsy (CP) to inform a care pathway.Searches included studies with a minimum of five participants with dystonia in CP receiving oral baclofen, benzodiazepines (clonazepam, diazepam, lorazepam), clonidine, gabapentin, levodopa, trihexyphenidyl, botulinum (...) toxin, intrathecal baclofen (ITB), or deep brain stimulation (DBS). Evidence was classified according to American Academy of Neurology guidelines.Twenty-eight articles underwent data extraction: one levodopa, five trihexyphenidyl, three botulinum toxin, six ITB, and 13 DBS studies. No articles for oral baclofen, benzodiazepines, clonidine, or gabapentin met the inclusion criteria. Evidence for reducing dystonia was level C (possibly effective) for ITB and DBS; level C (possibly ineffective

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2018 Developmental Medicine and Child Neurology

89. Systematic review of botulinum toxin treatment for oromandibular dystonia.

Systematic review of botulinum toxin treatment for oromandibular dystonia. Oromandibular dystonia (OMD) is an isolated focal dystonia that affects the muscles of the jaw, lower face and tongue. It is a rare disorder but is associated with significant impairment in quality of life. Treatment with oral medications has not been successful. Surgical interventions, such as deep brain stimulation, may be of benefit but have not been adequately evaluated. Currently, botulinum toxin (BoNT) injections (...) are regarded as the treatment of choice for OMD. However, the evidence supporting this is not available. Most studies are open label, observational studies, longitudinal clinical experience, case reports or retrospective analysis. From the available studies, OMD is responsive to appropriately targeted BoNT injections. Jaw closing dystonia responds the most robustly. Jaw opening dystonia is more complex to inject, but clinical experience is consistent with benefit. Lingual dystonia is the most difficult

2018 Toxicon : official journal of the International Society on Toxinology

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

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

91. Electromyographic and Joint Kinematic Patterns in Runner’s Dystonia (PubMed)

Electromyographic and Joint Kinematic Patterns in Runner’s Dystonia Runner’s dystonia (RD) is a task-specific focal dystonia of the lower limbs that occurs when running. In this retrospective case series, we present surface electromyography (EMG) and joint kinematic data from thirteen patients with RD who underwent instrumented gait analysis (IGA) at the Functional and Biomechanics Laboratory at the National Institutes of Health. Four cases of RD are described in greater detail (...) to demonstrate the potential utility of EMG with kinematic studies to identify dystonic muscle groups in RD. In these cases, the methodology for muscle selection for botulinum toxin therapy and the therapeutic response is discussed. Lateral heel whip, a proposed novel presentation of lower-limb dystonia, is also described.

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2018 Toxins

92. “The Twisted Mind” - Psychogenic Dystonia in An Adolescent, Responding to Antidepressant Therapy (PubMed)

“The Twisted Mind” - Psychogenic Dystonia in An Adolescent, Responding to Antidepressant Therapy Psychogenic dystonia is one of the most common problems encountered in movement disorder patients and accounted mostly for misdiagnosis, management confusion and treatment resistance. Psychiatric morbidities often are the culprit, hence proper psychiatric history taking is of utmost importance. Here we report one case where dystonia was the main presenting complaint of an underlying depressive

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2018 Shanghai archives of psychiatry

93. Long-term quality of life in cervical dystonia after treatment with abobotulinum toxin A: a 2-year prospective study (PubMed)

Long-term quality of life in cervical dystonia after treatment with abobotulinum toxin A: a 2-year prospective study The short-term quality of life (QoL) in cervical dystonia (CD) after treating with abobotulinum toxin A (Abo-BTX A) and neubotulinum toxin A (Neu-BTX A) have been studied in Thai CD patients. However; the long-term study has not been published.The aim of the present study was to determine long-term improvement of the health-related quality of life (HRQoL) after eight injections (...) of Abo-BTX A over 2 years in CD patients.A 2-year prospective study on the QoL of CD patients, as measured by HRQoL, before and after receiving eight injections of Abo-BTX A at 3-month intervals over a 2-year treatment period was performed. The disease-specific HRQoL was assessed before and after the treatment by using the Cervical Dystonia Impact Profile-58 (CDIP-58) questionnaire. The general HRQoL was assessed by using the Medical Outcomes 36-Item Short Form Health Survey (SF-36), while depressive

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2018 Neuropsychiatric disease and treatment

94. Adult-onset Generalized Dystonia as the Main Manifestation of MEGDEL Syndrome (PubMed)

Adult-onset Generalized Dystonia as the Main Manifestation of MEGDEL Syndrome MEGDEL syndrome (3-MethylGlutaconic aciduria, Deafness, Encephalopathy, Leigh-like syndrome) is a severe neurometabolic disease with infantile onset.Progressive and marked dystonia over a 6-year period in an adult male with MEGDEL syndrome.Generalized dystonia may be the main manifestation of a milder form of MEGDEL syndrome, which begins during adulthood.

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2018 Tremor and Other Hyperkinetic Movements

95. Multilingual website and cyberconsultations for oromandibular dystonia (PubMed)

Multilingual website and cyberconsultations for oromandibular dystonia Oromandibular dystonia is a focal dystonia that manifests as involuntary masticatory and/or tongue muscle contractions. This movement disorder is frequently misdiagnosed as a temporomandibular disorder. Hence, it would be useful to establish a method that makes it possible for patients with the condition to find appropriate medical institutions by themselves. The author produced a website Involuntary movements (...) of the stomatognathic region (https://sites. google.com/site/oromandibulardystoniaenglish/) for patients with oromandibular dystonia, which is available in twenty languages. It has been viewed more than 1,000,000 times by individuals from all over the world. The visitors to the site have completed questionnaires and/or sent images or videos of their involuntary movements over the internet. Cyberconsultations (remote diagnosis) were also performed via Skype™. Approximately 1000 patients with involuntary

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2018 Neurology international

96. GABAA Receptor Availability Changes Underlie Symptoms in Isolated Cervical Dystonia (PubMed)

GABAA Receptor Availability Changes Underlie Symptoms in Isolated Cervical Dystonia GABAA receptor availability changes within sensorimotor regions have been reported in some isolated forms of dystonia. Whether similar abnormalities underlie symptoms in cervical dystonia is not known. In the present study, a total of 15 cervical dystonia patients and 15 age- and sex-matched controls underwent 11C-flumazenil PET/CT scanning. The density of available GABAA receptors was estimated using (...) a Simplified Reference Tissue Model 2. Group differences were evaluated using a two-sample T-test, and correlations with dystonia severity, as measured by the Toronto Western Spasmodic Torticollis Rating Scale, and disease duration were evaluated using a regression analysis. Voxel-based analyses revealed increased GABAA availability within the right precentral gyrus in brain motor regions previously associated with head turning and the left parahippocampal gyrus. GABAA availability within the bilateral

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2018 Frontiers in neurology

97. Pilot Study of a Device to Induce the Hanger Reflex in Patients with Cervical Dystonia (PubMed)

Pilot Study of a Device to Induce the Hanger Reflex in Patients with Cervical Dystonia The hanger reflex (HR) is an involuntary head rotation that occurs in response to a clothes hanger encircling the head and compressing the unilateral fronto-temporal area. Here, we developed an elliptical device to induce the HR and examined its utility for the treatment of cervical dystonia (CD). The study included 19 patients with rotational-type CD. The device was applied to each subject's head

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2018 Neurologia medico-chirurgica

98. Quantitative Assessment of Hand Dysfunction in Patients with Early Parkinson’s Disease and Focal Hand Dystonia (PubMed)

Quantitative Assessment of Hand Dysfunction in Patients with Early Parkinson’s Disease and Focal Hand Dystonia Motor impairments related to hand function are common symptoms in patients with movement disorders, such as Parkinson's disease (PD) and focal hand dystonia (FHD). However, hand dysfunction has not been quantitatively assessed as a clinical tool for screening patient groups from healthy controls (HCs). The aim of our study was 1) to quantitatively assess hand dysfunction in patients

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2018 Journal of movement disorders

99. Atypical presentation of dopa‐responsive dystonia in Taiwan (PubMed)

Atypical presentation of dopa‐responsive dystonia in Taiwan The typical clinical presentation of dopa-responsive dystonia, which is also called Segawa disease, is a young age of onset, with predominance in females, diurnal fluctuation of lower limb dystonia, and fair response to low-dose levodopa. This disease has both autosomal dominant and autosomal recessive inheritance. Autosomal dominant Segawa disease is caused by GCH1 mutation on chromosome 14q22.1-q22.2. Here, we report the case

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2018 Brain and behavior

100. Mutations in THAP1/DYT6 reveal that diverse dystonia genes disrupt similar neuronal pathways and functions (PubMed)

Mutations in THAP1/DYT6 reveal that diverse dystonia genes disrupt similar neuronal pathways and functions Dystonia is characterized by involuntary muscle contractions. Its many forms are genetically, phenotypically and etiologically diverse and it is unknown whether their pathogenesis converges on shared pathways. Mutations in THAP1 [THAP (Thanatos-associated protein) domain containing, apoptosis associated protein 1], a ubiquitously expressed transcription factor with DNA binding and protein (...) -interaction domains, cause dystonia, DYT6. There is a unique, neuronal 50-kDa Thap1-like immunoreactive species, and Thap1 levels are auto-regulated on the mRNA level. However, THAP1 downstream targets in neurons, and the mechanism via which it causes dystonia are largely unknown. We used RNA-Seq to assay the in vivo effect of a heterozygote Thap1 C54Y or ΔExon2 allele on the gene transcription signatures in neonatal mouse striatum and cerebellum. Enriched pathways and gene ontology terms include eIF2α

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2018 PLoS genetics

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