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Dystonia

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21. The Frequency and Self‐perceived Impact on Daily Life of Motor and Non‐motor Symptoms in Cervical Dystonia (PubMed)

The Frequency and Self‐perceived Impact on Daily Life of Motor and Non‐motor Symptoms in Cervical Dystonia Evidence suggests that non-motor symptoms (NMS) are the most important predictors of decreased health-related quality of life (HR-QoL) in patients with cervical dystonia (CD). In this study, we evaluate an NMS screening list and examine the influence of motor symptoms and NMS on HR-QoL.In 40 patients with CD, the frequency of NMS was evaluated using an extended NMS questionnaire (...) . Several domains of HR-QoL were significantly influenced by NMS, whereas motor symptoms had only a small influence on the physical functioning domain of HR-QoL.Our findings highlight the impact of NMS on HR-QoL and emphasize the importance of a standardized, validated NMS questionnaire for patients with dystonia. This would enable us to monitor the effect of treatment for motor symptoms and NMS on an individual basis and improve treatment options.

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2017 Movement disorders clinical practice

22. A History of Dystonia: Ancient to Modern (PubMed)

A History of Dystonia: Ancient to Modern Before 1911, when Hermann Oppenheim introduced the term dystonia, this movement disorder lacked a unifying descriptor. While words like epilepsy, apoplexy, and palsy have had their meanings since antiquity, references to dystonia are much harder to identify in historical documents. Torticollis is an exception, although there is difficulty distinguishing dystonic torticollis from congenital muscular torticollis. There are, nevertheless, possible (...) representations of dystonia in literature and visual art from the pre-modern world. Eighteenth century systematic nosologists such as Linnaeus, de Sauvages, and Cullen had attempted to classify some spasmodic conditions, including torticollis. But only after Charcot's contributions to clinical neuroscience were the various forms of generalized and focal dystonia clearly delineated. They were categorized as névroses: Charcot's term for conditions without an identifiable neuroanatomical cause. For a time

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2017 Movement disorders clinical practice

23. Validation of the XDP–MDSP rating scale for the evaluation of patients with X-linked dystonia-parkinsonism (PubMed)

Validation of the XDP–MDSP rating scale for the evaluation of patients with X-linked dystonia-parkinsonism X-linked dystonia-parkinsonism(XDP) is a neurodegenerative disorder endemic to the Philippines. A rating scale was developed by the authors under the guidance of the Movement Disorder Society of the Philippines (MDSP) to assess XDP severity and progression, functional impact, and response to treatment in future clinical trials. Our main objective was to validate our new scale, the XDP (...) -MDSP scale. The initial validation process included pragmatic testing to XDP patients followed by a modified Delphi procedure with an international advisory panel of dystonia, parkinsonism and scale development experts. Pearson correlation was used to assess construct validity of our new scale versus the assess construct validity of our new scale versus standard dystonia, parkinsonism, non-motor and functional scales; and also to assess divergent validity against behavioral and cognitive scales

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2017 NPJ Parkinson's disease

24. Deep Brain Stimulation for the Dystonias: Evidence, Knowledge Gaps, and Practical Considerations (PubMed)

Deep Brain Stimulation for the Dystonias: Evidence, Knowledge Gaps, and Practical Considerations Deep brain stimulation (DBS) of the globus pallidus internus (GPi-DBS) is among the most effective treatment options for dystonias. Because the term "dystonia" is defined by a characteristic phenomenology of involuntary muscle contractions, which may present with a large clinical and pathogenetic heterogeneity, decision making for or against GPi-DBS can be difficult in individual patients.A search (...) of the PubMed database for research and review articles, focused on "deep brain stimulation" and "dystonia" was used to identify clinical trials and to determine current concepts in the surgical management of dystonia. Patient selection in previous studies was recategorized by the authors using the new dystonia classification put forward by a consensus committee of experts in dystonia research. The evidence and knowledge gaps are summarized and commented by the authors taking into account expert opinion

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2017 Movement disorders clinical practice

25. Providing an imputation algorithm for missing values of longitudinal data using Cuckoo search algorithm: A case study on cervical dystonia (PubMed)

Providing an imputation algorithm for missing values of longitudinal data using Cuckoo search algorithm: A case study on cervical dystonia Missing values in data are found in a large number of studies in the field of medical sciences, especially longitudinal ones, in which repeated measurements are taken from each person during the study. In this regard, several statistical endeavors have been performed on the concepts, issues, and theoretical methods during the past few decades.Herein, we (...) focused on the missing data related to patients excluded from longitudinal studies. To this end, two statistical parameters of similarity and correlation coefficient were employed. In addition, metaheuristic algorithms were applied to achieve an optimal solution. The selected metaheuristic algorithm, which has a great search functionality, was the Cuckoo search algorithm.Profiles of subjects with cervical dystonia (CD) were used to evaluate the proposed model after applying missingness

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2017 Electronic physician

26. A systematic review of the barriers and facilitators to the use of Botulinum toxin in cervical dystonia

A systematic review of the barriers and facilitators to the use of Botulinum toxin in cervical dystonia Print | PDF PROSPERO This information has been provided by the named contact for this review. CRD has accepted this information in good faith and registered the review in PROSPERO. The registrant confirms that the information supplied for this submission is accurate and complete. CRD bears no responsibility or liability for the content of this registration record, any associated files

2019 PROSPERO

27. A systematic review of barriers and facilitators to participation in physical activity in people with cervical dystonia

A systematic review of barriers and facilitators to participation in physical activity in people with cervical dystonia Print | PDF PROSPERO This information has been provided by the named contact for this review. CRD has accepted this information in good faith and registered the review in PROSPERO. The registrant confirms that the information supplied for this submission is accurate and complete. CRD bears no responsibility or liability for the content of this registration record, any

2019 PROSPERO

28. Mouse model of rare TOR1A variant found in sporadic focal dystonia impairs domains affected in DYT1 dystonia patients and animal models (PubMed)

Mouse model of rare TOR1A variant found in sporadic focal dystonia impairs domains affected in DYT1 dystonia patients and animal models Rare de novo mutations in genes associated with inherited Mendelian disorders are potential contributors to sporadic disease. DYT1 dystonia is an autosomal dominant, early-onset, generalized dystonia associated with an in-frame, trinucleotide deletion (n. delGAG, p. ΔE 302/303) in the Tor1a gene. Here we examine the significance of a rare missense variant (...) in the Tor1a gene (c. 613T>A, p. F205I), previously identified in a patient with sporadic late-onset focal dystonia, by modeling it in mice. Homozygous F205I mice have motor impairment, reduced steady-state levels of TorsinA, altered corticostriatal synaptic plasticity, and prominent brain imaging abnormalities in areas associated with motor function. Thus, the F205I variant causes abnormalities in domains affected in people and/or mouse models with the DYT1 Tor1a mutation (ΔE). Our findings establish

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2016 Neurobiology of disease

29. Registry of Deep Brain Stimulation With the VERCISEâ„¢ System for Treatment of Dystonia: Vercise DBS Dystonia Registry

Registry of Deep Brain Stimulation With the VERCISEâ„¢ System for Treatment of Dystonia: Vercise DBS Dystonia Registry Registry of Deep Brain Stimulation With the VERCISE™ System for Treatment of Dystonia: Vercise DBS Dystonia Registry - 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. Registry of Deep Brain Stimulation With the VERCISE™ System for Treatment of Dystonia: Vercise DBS Dystonia Registry 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

2016 Clinical Trials

30. Recognizing the Common Origins of Dystonia and the Development of Human Movement: A Manifesto of Unmet Needs in Isolated Childhood Dystonias (PubMed)

Recognizing the Common Origins of Dystonia and the Development of Human Movement: A Manifesto of Unmet Needs in Isolated Childhood Dystonias Dystonia in childhood may be severely disabling and often unremitting and unrecognized. Considered a rare disorder, dystonic symptoms in childhood are pervasive in many conditions including disorders of developmental delay, cerebral palsy (CP), autism, neurometabolic, neuroinflammatory, and neurogenetic disorders. Collectively, there is a need to recognize (...) the role of early postures and movements which characterize phases of normal fetal, infant, and child development as a backdrop to the many facets of dystonia in early childhood neurological disorders and to be aware of the developmental context of dystonic symptoms. The role of cocontraction is explored throughout infancy, childhood, young adulthood, and in the elderly. Under-recognition of pervasive dystonic disorders of childhood, including within CP is reviewed. Original descriptions of CP

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2016 Frontiers in neurology

31. Deep brain stimulation of the globus pallidus internus versus the subthalamic nucleus in isolated dystonia. (PubMed)

Deep brain stimulation of the globus pallidus internus versus the subthalamic nucleus in isolated dystonia. OBJECTIVESurgical procedures involving deep brain stimulation (DBS) of the globus pallidus internus (GPi) or subthalamic nucleus (STN) are well-established treatments for isolated dystonia. However, selection of the best stimulation target remains a matter of debate. The authors' objective was to compare the effectiveness of DBS of the GPi and the STN in patients with isolated (...) dystonia.METHODSIn this matched retrospective cohort study, the authors searched an institutional database for data on all patients with isolated dystonia who had undergone bilateral implantation of DBS electrodes in either the GPi or STN in the period from January 30, 2014, to June 30, 2017. Standardized assessments of dystonia and health-related quality of life using the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) and SF-36 were conducted before and at 1, 6, and 12 months after surgery. No patients were

2019 Journal of Neurosurgery

32. Functional and structural neural bases of task specificity in isolated focal dystonia. (PubMed)

Functional and structural neural bases of task specificity in isolated focal dystonia. Task-specific focal dystonias selectively affect movements during the production of highly learned and complex motor behaviors. Manifestation of some task-specific focal dystonias, such as musician's dystonia, has been associated with excessive practice and overuse, whereas the etiology of others remains largely unknown.In this study, we aimed to examine the neural correlates of task-specific dystonias (...) in order to determine their disorder-specific pathophysiological traits.Using multimodal neuroimaging analyses of resting-state functional connectivity, voxel-based morphometry and tract-based spatial statistics, we examined functional and structural abnormalities that are both common to and distinct between four different forms of task-specific focal dystonias.Compared to the normal state, all task-specific focal dystonias were characterized by abnormal recruitment of parietal and premotor cortices

2019 Movement Disorders

33. The striking effects of deep cerebellar stimulation on generalized fixed dystonia: case report. (PubMed)

The striking effects of deep cerebellar stimulation on generalized fixed dystonia: case report. Cerebellar neuromodulation could influence the pathological abnormalities of movement disorders through several connections between the cerebellum and the basal ganglia or other cortices. In the present report, the authors demonstrate the effects of cerebellar deep brain stimulation (DBS) on a patient with severe generalized fixed dystonia (FD) that was refractory to bilateral pallidotomy

2019 Journal of Neurosurgery

34. Top-down alteration of functional connectivity within the sensorimotor network in focal dystonia. (PubMed)

Top-down alteration of functional connectivity within the sensorimotor network in focal dystonia. To determine the directionality of regional interactions and influences of one region on another within the functionally abnormal sensorimotor network in isolated focal dystonia.A total of 40 patients with spasmodic dysphonia with and without dystonic tremor of voice and 35 healthy controls participated in the study. Independent component analysis (ICA) of resting-state fMRI was used to identify 4 (...) , putamen, and bilateral premotor cortex in all patients compared to controls, pointing to a largely overlapping pathophysiology of focal dystonia and dystonic tremor. DCM determined that the disruption of the sensorimotor network was both top-down, involving hyperexcitable parieto-putaminal influence, and interhemispheric, involving right-to-left hyperexcitable premotor coupling in all patients compared to controls. These regional alterations were associated with their abnormal self-inhibitory function

2019 Neurology

35. Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study. (PubMed)

Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study. Childhood-onset dystonia is often genetically determined. Recently, KMT2B variants have been recognized as an important cause of childhood-onset dystonia.To define the frequency of KMT2B mutations in a cohort of dystonic patients aged <18 years at onset, the associated clinical and radiological phenotype, and the natural history of disease.Whole-exome sequencing or customized gene panels were used (...) to screen a cohort of 65 patients who had previously tested negative for all other known dystonia-associated genes.We identified 14 patients (21.5%) carrying KMT2B variants, of which 1 was classified as a variant of unknown significance. We also identified 2 additional patients carrying pathogenic mutations in GNAO1 and ATM. Overall, we established a definitive genetic diagnosis in 23% of cases. We observed a spectrum of clinical manifestations in KMT2B variant carriers, ranging from generalized

2019 Movement Disorders

36. Network localization of cervical dystonia based on causal brain lesions. (PubMed)

Network localization of cervical dystonia based on causal brain lesions. Cervical dystonia is a neurological disorder characterized by sustained, involuntary movements of the head and neck. Most cases of cervical dystonia are idiopathic, with no obvious cause, yet some cases are acquired, secondary to focal brain lesions. These latter cases are valuable as they establish a causal link between neuroanatomy and resultant symptoms, lending insight into the brain regions causing cervical dystonia (...) and possible treatment targets. However, lesions causing cervical dystonia can occur in multiple different brain locations, leaving localization unclear. Here, we use a technique termed 'lesion network mapping', which uses connectome data from a large cohort of healthy subjects (resting state functional MRI, n = 1000) to test whether lesion locations causing cervical dystonia map to a common brain network. We then test whether this network, derived from brain lesions, is abnormal in patients

2019 Brain

37. TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model. (PubMed)

TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model. Genetic mutations in TBC1D24 have been associated with multiple phenotypes, with epilepsy being the main clinical manifestation. The TBC1D24 protein consists of the unique association of a Tre2/Bub2/Cdc16 (TBC) domain and a TBC/lysin motif domain/catalytic (TLDc) domain. More than 50 missense and loss-of-function mutations have been described and are spread over the entire protein. Through whole (...) genome/exome sequencing we identified compound heterozygous mutations, R360H and G501R, within the TLDc domain, in an index family with a Rolandic epilepsy exercise-induced dystonia phenotype (http://omim.org/entry/608105). A 20-year long clinical follow-up revealed that epilepsy was self-limited in all three affected patients, but exercise-induced dystonia persisted into adulthood in two. Furthermore, we identified three additional sporadic paediatric patients with a remarkably similar phenotype

2019 Brain

38. A hexanucleotide repeat modifies expressivity of X-linked dystonia parkinsonism. (PubMed)

A hexanucleotide repeat modifies expressivity of X-linked dystonia parkinsonism. X-linked dystonia parkinsonism (XDP) is a neurodegenerative movement disorder caused by a single mutation: SINE-VNTR-Alu (SVA) retrotransposon insertion in TAF1. Recently, a (CCCTCT)n repeat within the SVA insertion has been reported as an age-at-onset (AAO) modifier in XDP. Here we investigate the role of this hexanucleotide repeat in modifying expressivity of XDP.We genotyped the hexanucleotide repeat in 355 XDP (...) patients and correlated the repeat number (RN) with AAO (n = 295), initial clinical manifestation (n = 294), site of dystonia onset (n = 238), disease severity (n = 28), and cognitive function (n = 15). Furthermore, we investigated i) repeat instability by segregation analysis and Southern blotting using postmortem brain samples from two affected individuals and ii) relative TAF1 expression in blood RNA from 31 XDP patients.RN showed significant inverse correlations with AAO and with TAF1 expression

2019 Annals of Neurology

39. Deep brain stimulation for dystonia in Finland during 2007-2016. (PubMed)

Deep brain stimulation for dystonia in Finland during 2007-2016. Dystonia is a movement disorder substantially affecting the quality of life and the ability to work. A proportion of patients does not respond to first line pharmacotherapy. Deep brain stimulation (DBS) is established as a primary operative treatment option for severe drug resistant dystonia. We studied dystonia patients treated with DBS in Finland between the years 2007-2016 to evaluate the use and outcomes of DBS treatment.We (...) analysed the hospital records of dystonia patients, who underwent DBS operation during 2007-2016 in Finland. The clinical and technical parameters were recorded as well as preoperative assessments and treatments. The response to DBS was evaluated retrospectively using the Global Dystonia Rating Scale (GDS).Out of 585 dB implantations during the study period, 37 were done for dystonia. The clinical response improved significantly with time in the isolated focal dystonia group, and at 12 months, 22 of 32

2019 BMC Neurology

40. Focal limb dystonia caused by a complication of the cerebellar developmental venous anomaly: a case report. (PubMed)

Focal limb dystonia caused by a complication of the cerebellar developmental venous anomaly: a case report. There are no established theories regarding the role of the cerebellum in dystonia. We report a case of focal limb dystonia secondary to a vasogenic edema of the dentate nucleus caused by a symptomatic developmental venous anomaly.A 44-year-old woman presented with sudden onset dystonia in her left arm for 1 week. Brain imaging revealed vasogenic edema in the deep white matter of the left (...) an important role in the development of dystonia. Further studies are needed to elucidate the relationship between dystonia and cerebellar dysfunction.

2019 BMC Neurology

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