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Dystonia

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101. Actual and Illusory Perception in Parkinson's Disease and Dystonia: A Narrative Review Full Text available with Trip Pro

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

2018 Frontiers in neurology

102. Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma Full Text available with Trip Pro

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

2018 Neurology: Genetics

103. Cervical Dystonia and Executive Function: A Pilot Magnetoencephalography Study Full Text available with Trip Pro

Cervical Dystonia and Executive Function: A Pilot Magnetoencephalography Study Cervical dystonia (CD) patients have impaired working memory, processing speed and visual-motor integration ability. We used magnetoencephalography (MEG) to investigate changes in cerebral oscillations in CD patients during an executive function test, before and after administration of botulinum toxin.MEG data were collected from five CD patients while they performed a visual continuous performance task (CPT), before

2018 Brain sciences

104. NKX2-1 New Mutation Associated With Myoclonus, Dystonia, and Pituitary Involvement Full Text available with Trip Pro

NKX2-1 New Mutation Associated With Myoclonus, Dystonia, and Pituitary Involvement Background:NKX2-1 related disorders (also known as brain-lung-thyroid syndrome or benign hereditary chorea 1) are associated with a wide spectrum of symptoms. The core features are various movement disorders, characteristically chorea, less frequently myoclonus, dystonia, ataxia; thyroid disease; and lung involvement. The full triad is present in 50% of affected individuals. Numerous additional symptoms may (...) be associated, although many of these were reported only in single cases. Pituitary dysfunction was ambiguously linked to NKX2-1 haploinsufficiency previously. Case Presentation: We examined two members of a family with motor developmental delay, mixed movement disorder (myoclonus, dystonia and chorea) and endocrinological abnormalities (peripheric thyroid disease, and pituitary hormone deficiencies). Dystonia predominated at the father, and myoclonus at the daughter. The father had hypogonadotropic

2018 Frontiers in genetics

105. KMT2B Is Selectively Required for Neuronal Transdifferentiation, and Its Loss Exposes Dystonia Candidate Genes Full Text available with Trip Pro

KMT2B Is Selectively Required for Neuronal Transdifferentiation, and Its Loss Exposes Dystonia Candidate Genes Transdifferentiation of fibroblasts into induced neuronal cells (iNs) by the neuron-specific transcription factors Brn2, Myt1l, and Ascl1 is a paradigmatic example of inter-lineage conversion across epigenetically distant cells. Despite tremendous progress regarding the transcriptional hierarchy underlying transdifferentiation, the enablers of the concomitant epigenome resetting remain (...) to be elucidated. Here, we investigated the role of KMT2A and KMT2B, two histone H3 lysine 4 methylases with cardinal roles in development, through individual and combined inactivation. We found that Kmt2b, whose human homolog's mutations cause dystonia, is selectively required for iN conversion through suppression of the alternative myocyte program and induction of neuronal maturation genes. The identification of KMT2B-vulnerable targets allowed us, in turn, to expose, in a cohort of 225 patients, 45 unique

2018 Cell reports

106. Validation of a Questionnaire for Distinguishing X-Linked Dystonia Parkinsonism From Its Mimics Full Text available with Trip Pro

Validation of a Questionnaire for Distinguishing X-Linked Dystonia Parkinsonism From Its Mimics Objectives: X-linked dystonia parkinsonism (XDP) is a neurodegenerative movement disorder endemic to the island of Panay in the Philippines. We undertook a population-based prevalence study to enumerate all cases of XDP in Panay. We first developed a 4-item questionnaire to distinguish XDP suspects from the general population. In the present study we aimed to revalidate this questionnaire

2018 Frontiers in neurology

107. Sexual dysfunction in cervical dystonia and blepharospasm Full Text available with Trip Pro

Sexual dysfunction in cervical dystonia and blepharospasm Sexual dysfunction is a frequent, yet underrated, symptom of neurological disease. While knowledge of non-motor comorbidity in focal dystonia is growing rapidly, there is no information on the prevalence of sexual dysfunction in cervical dystonia (CD) or blepharospasm (BL).In this controlled study, we examined sexual dysfunction in 65 patients with CD and 54 patients with BL by the Arizona Sexual Experience Scale, a validated self-rating (...) scale.Sexual dysfunction was significantly higher in CD patients (45%) than in controls (24%), and frequent in BL (39%). Interestingly, variables of dystonia such as disease duration or severity did not influence sexuality; yet, 23% of CD patients ascribed worsening of their sexual life to dystonia. Symptoms of depression were identified as the most important predictors for sexual dysfunction, followed by age, and personal status (single).Our observations establish sexual dysfunction as a frequent non

2018 Neuropsychiatric disease and treatment

108. Spatial Integration of Somatosensory Inputs during Sensory-Motor Plasticity Phenomena Is Normal in Focal Hand Dystonia Full Text available with Trip Pro

Spatial Integration of Somatosensory Inputs during Sensory-Motor Plasticity Phenomena Is Normal in Focal Hand Dystonia Surround inhibition is a system that sharpens sensation by creating an inhibitory zone around the central core of activation. In the motor system, this mechanism probably contributes to the selection of voluntary movements, and it seems to be lost in dystonia. Objectives. To explore if sensory information is abnormally processed and integrated in focal hand dystonia (FHD (...) (SEPs) evoked by a dual nerve input.FHD had two main abnormalities: first, the amount of facilitation was larger than normal subjects; second, the spatial specificity was lost. The MU/(M + U) ∗ 100 ratio was similar in healthy subjects and in FHD patients, and the somatosensory integration was normal in this subset of patients. Conclusions. The inhibitory integration of somatosensory inputs and the somatosensory inhibition are normal in patients with focal dystonia as well as lateral surrounding

2018 Neural plasticity

109. Transfer Dysphagia Due to Focal Dystonia Full Text available with Trip Pro

Transfer Dysphagia Due to Focal Dystonia The inability to propel a bolus of food successfully from the posterior part of the oral cavity to the oropharynx is defined as transfer dysphagia. The present case series describes the varied presentation of transfer dysphagia due to focal dystonia and highlights the importance of early detection by following up on strong suspicions.We describe seven cases of transfer dysphagia due to focal dystonia. Transfer dysphagia as a form of focal dystonia may (...) appear as the sole presenting complaint or may present with other forms of focal dystonia.Four out of seven patients had pure transfer dysphagia and had previously been treated for functional dysphagia. A high index of suspicion, barium swallow including videofluoroscopy, associated dystonia in other parts of the body and response to drug therapy with trihexyphenidyl/tetrabenazine helped to confirm the diagnosis.Awareness of these clinical presentations among neurologists and non-neurologists can

2018 Journal of movement disorders

110. A Novel Heterozygous ANO3 Mutation with Basal Ganglia Dysfunction in a Patient with Adult-Onset Isolated Segmental Dystonia Full Text available with Trip Pro

A Novel Heterozygous ANO3 Mutation with Basal Ganglia Dysfunction in a Patient with Adult-Onset Isolated Segmental Dystonia 30284773 2018 11 14 1738-6586 14 4 2018 Oct Journal of clinical neurology (Seoul, Korea) J Clin Neurol A Novel Heterozygous ANO3 Mutation with Basal Ganglia Dysfunction in a Patient with Adult-Onset Isolated Segmental Dystonia. 596-597 10.3988/jcn.2018.14.4.596 Yoo Han Soo HS Department of Neurology, Yonsei University College of Medicine, Seoul, Korea. Lee Hyunjoo H

2018 Journal of clinical neurology (Seoul, Korea)

111. Interdisciplinary recognizing and managing of drug‐induced tardive oromandibular dystonia: two case reports Full Text available with Trip Pro

Interdisciplinary recognizing and managing of drug‐induced tardive oromandibular dystonia: two case reports Tardive dystonia is a risk factor in medical antipsychotic treatment. It often begins with repetitive involuntary jaw and tongue movements resulting in impaired chewing and detrimental effect on the dentition. The orofacial dysfunction may go unrecognized in a neurological setting. The diagnosis may be difficult so we suggest interdisciplinary collaboration.

2018 Clinical Case Reports

112. Globus Pallidum DBS for Task-Specific Dystonia in a Professional Golfer Full Text available with Trip Pro

Globus Pallidum DBS for Task-Specific Dystonia in a Professional Golfer 30402336 2018 12 11 2018 12 11 2160-8288 8 2018 Tremor and other hyperkinetic movements (New York, N.Y.) Tremor Other Hyperkinet Mov (N Y) Globus Pallidum DBS for Task-Specific Dystonia in a Professional Golfer. 487 10.7916/D83X9Q9D Wagle Shukla Aparna A Department of Neurology, University of Florida, Center for Movement Disorders and Neurorestoration, Gainesville, FL, USA. Hu Wei W Department of Neurology, University (...) Letter Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't 2018 10 09 United States Tremor Other Hyperkinet Mov (N Y) 101569493 2160-8288 Dystonia, Focal, Task-Specific IM Deep Brain Stimulation methods Dystonic Disorders therapy Globus Pallidus physiology Golf injuries Humans Male Middle Aged Task-specific cervical dystonia deep brain stimulation globus pallidum golf yips Funding: None. Conflicts of Interest: The authors report no conflict of interest. Ethics Statement: This study

2018 Tremor and Other Hyperkinetic Movements

113. SCA2 presenting as a focal dystonia Full Text available with Trip Pro

SCA2 presenting as a focal dystonia Spinocerebellar ataxia 2 (SCA2) is an autosomal dominant neurodegenerative disorder caused by CAG repeat expansions in ATXN2 on chromosome 12q24. Patients present with adult-onset progressive gait ataxia, slow saccades, nystagmus, dysarthria and peripheral neuropathy. Dystonia is known to occur as SCA2 advances, but is rarely the presenting symptom.A 43-year-old right handed woman presented with focal dystonia of the right hand which started two years earlier (...) with difficulty writing. There were only mild cerebellar signs. Her mother was reported to have a progressive gait disorder and we subsequently learned that she had SCA2. A total of 10 maternal family members were similarly affected. Over the course of 10 years, the patient's cerebellar signs progressed only mildly however the dystonia worsened to the extent of inability to use her right hand. Dystonia did not improve significantly with botulinum toxin, levodopa or trihexyphenidyl, but has shown marked

2018 Journal of clinical movement disorders

114. Management of Psychosis in a Patient with Probable Dopa-Responsive Dystonia Full Text available with Trip Pro

Management of Psychosis in a Patient with Probable Dopa-Responsive Dystonia Dopa-responsive dystonia is a rare childhood neurological disorder characterized by asymmetric dystonia, predominantly of the lower limb, that responds excellently to levodopa replacement therapy. Although it is known that behavioral changes, such as depression, anxiety disorders, and sleep disturbances, typically follow onset of motor symptoms, there is limited literature on the psychiatric symptoms of this disorder (...) . This report describes a novel case of a 20-year-old male with a history of dopa-responsive dystonia and schizoaffective disorder who presented with both dystonia and psychosis after a period of medication noncompliance. This case provides a reference for the management of psychosis in patients with dopa-responsive dystonia and highlights the need for more research on the nonmotor symptoms that accompany this neurological disorder.

2018 Case reports in psychiatry

115. Long-term quality of life in cervical dystonia after treatment with abobotulinum toxin A: a 2-year prospective study Full Text available with Trip Pro

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

2018 Neuropsychiatric disease and treatment

116. “The Twisted Mind” - Psychogenic Dystonia in An Adolescent, Responding to Antidepressant Therapy Full Text available with Trip Pro

“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

2018 Shanghai archives of psychiatry

117. Differences in psychopathology and behavioral characteristics of patients affected by conversion motor disorder and organic dystonia Full Text available with Trip Pro

Differences in psychopathology and behavioral characteristics of patients affected by conversion motor disorder and organic dystonia Typically, the diagnosis of conversion motor disorder (CMD) is achieved by the exclusion of a wide range of organic illnesses rather than by applying positive criteria. New diagnostic criteria are highly needed in this scenario. The main aim of this study was to explore the use of behavioral features as an inclusion criterion for CMD, taking into account (...) the relationship of the patients with physicians, and comparing the results with those from patients affected by organic dystonia (OD).Patients from the outpatient Movement Disorder Service were assigned to either the CMD or the OD group based on Fahn and Williams criteria. Differences in sociodemographics, disease history, psychopathology, and degree of satisfaction about care received were assessed. Patient-neurologist agreement about the etiological nature of the disorder was also assessed using the k

2018 Neuropsychiatric disease and treatment

118. Dystonia-deafness syndrome caused by ACTB p.Arg183Trp heterozygosity shows striatal dopaminergic dysfunction and response to pallidal stimulation Full Text available with Trip Pro

Dystonia-deafness syndrome caused by ACTB p.Arg183Trp heterozygosity shows striatal dopaminergic dysfunction and response to pallidal stimulation Dystonia-deafness syndrome is a well-known clinical entity, with sensorineural deafness typically manifesting earlier than dystonia. ACTB p.Arg183Trp heterozygosity has been reported in six patients to cause combined infant-onset deafness and dystonia manifesting in adolescence or young adulthood. Three of these have received beneficial pallidal (...) stimulation. Brain imaging to assess striatal function has not been reported previously, however. Nor has a comprehensive hypothesis been presented for how the pleiotropic manifestations of this specific beta-actin gene mutation originate developmentally.A 19-year-old girl with congenital mild dysmorphic facial features, cochlear implants for infant-onset deafness, and mild cognitive and emotional disability, presented with an adolescent-onset, severe generalized dystonia. Brain MRI and multiple single

2018 Journal of neurodevelopmental disorders

119. Botulinum Toxin Type A Injection for Cervical Dystonia in Adults with Dyskinetic Cerebral Palsy Full Text available with Trip Pro

Botulinum Toxin Type A Injection for Cervical Dystonia in Adults with Dyskinetic Cerebral Palsy We aimed to evaluate the efficacy and safety of injecting botulinum toxin A (BoNT-A) into the neck muscles to treat cervical dystonia (CD) in patients with dyskinetic cerebral palsy (CP). This was a randomized, double-blinded, placebo-controlled trial with cross-over design. We prospectively enrolled adults with dyskinetic CP who were over 20 years old and had been clinically diagnosed with CD

2018 Toxins Controlled trial quality: predicted high

120. How Many Types of Dystonia? Pathophysiological Considerations Full Text available with Trip Pro

How Many Types of Dystonia? Pathophysiological Considerations Dystonia can be seen in a number of different phenotypes that may arise from different etiologies. The pathophysiological substrate of dystonia is related to three lines of research. The first postulate a loss of inhibition which may account for the excess of movement and for the overflow phenomena. A second abnormality is sensory dysfunction which is related to the mild sensory complaints in patients with focal dystonias and may (...) be responsible for some of the motor dysfunction. Finally, there are strong pieces of evidence from animal and human studies suggesting that alterations of synaptic plasticity characterized by a disruption of homeostatic plasticity, with a prevailing facilitation of synaptic potentiation may play a pivotal role in primary dystonia. These working hypotheses have been generalized in all form of dystonia. On the other hand, several pieces of evidence now suggest that the pathophysiology may be slightly

2018 Frontiers in neurology

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