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Dystonia - DOAJ

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Last Updated: 25 September 2022

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Hypermanganesemia with Dystonia Type 2: A Potentially Treatable Neurodegenerative Disorder: A Case Series in a Tertiary University Hospital

Objective: To describe the treatment and clinical course in these situations, Objective: To display a series of three cases of hypermanganesemia with dystonia type 2 (which was genetically linked to a mutation in the SLC39A14 gene). Participants: Three unrelated pediatric patients with hypermanganesemia with dystonia type 2 were genetically linked to a mutation in the SLC39A14 gene, which was genetically linked to a mutation in the SLC39A14 gene. The reaction to chelation therapy based on scientific advancements in motor and cognition development was based on the main outcome and measure. Results: Both three patients were introduced to chelation therapy utilizing calcium disodium edetate, and two of them reported an improvement in their clinical course. Conclusions and Relevance: Early diagnosis and treatment with chelating agents, such as calcium disodium edetate, may help with patients with hypermanganesemia with dystonia type 2 disease.

Source link: https://doi.org/10.3390/children9091335


The Extreme Ends of the Treatment Response Spectrum to Botulinum Toxin in Cervical Dystonia

This research was intended to reveal unique cervical dystonia cases with therapy reactions that were very different from the usual treatment regimen, indicating the extreme ends of therapy spectrum. Conclusions: These five patients' reaction to a BoNT preparation may have been surprising. Because a patient has already developed NABs against BoNT/A, it is recommended that cautious onset of BoNT therapy as well as subsequent dose adjustment and eventually switch to another BoNT/A drug when a patient has already developed NABs against BoNT/A.

Source link: https://doi.org/10.3390/toxins13010022


The Relative Merits of an Individualized Versus a Generic Approach to Rating Functional Performance in Childhood Dystonia

The Performance Quality Rating Scale is an observational tool that measures results at various levels of activity and participation. The aim of this report was to compare two existing ratings for children with childhood-onset hyperkinetic movement disorders, including dystonia. After intervention, it was determined that the results were determined to determine if the programs indicated differences in e results based on the participants' goals and change ratings after intervention. Even though the post-intervention score difference was not significantly different, there was a significant difference in outcomes at pre-intervention from the two approaches to rating, which meant there was no difference. PQRS-I had a wider score range, capturing greater achievement gaps and greater transition between baseline and post-intervention results for children and young people with dystonic movement. PQRS-I appears to be the most effective way to capture growth and performance changes when dealing with clients with severe motor-efficiency deficits.

Source link: https://doi.org/10.3390/children8010007


Complex regional pain syndrome dystonia induced rigid adductovarus rearfoot: A surgical case study

Fixed dystonia secondary to complex regional pain syndrome is a rare condition that is usually triggered by a traumatic injury. LOCE: 4 case study The patient was once more able to walk pain free after a plantigrade foot as a result of medical therapy with neurology, a soft tissue reconstructive surgery, and a second osseous reconstructive surgery were all able to walk pain free.

Source link: https://doi.org/10.1016/j.fastrc.2022.100237


Improvement in both severe obsessive–compulsive disorder and refractory tardive dystonia following electroconvulsive therapy: A case report

In addition, patients with TDt also have an ineffective response to pharmacotherapy. Case Presentation Our case was a 37-year-old Japanese woman who underwent significant changes in both refractory TDt and severe OCD following ECT. Conclusion Our paper explores the following two aspects: If TDt is associated with severe OCD and/or the effect of pharmacotherapy is ineffective, ECT may be considered as a treatment option; given the common causes of frontal cortex dysfunction present in both dystonia and OCD, ECT may have a therapeutic effect.

Source link: https://doi.org/10.1002/pcn5.15


Clinical Observation of Botulinum Toxin Injection in the Treatment of Focal Dystonia and Muscle Spasm

Dystonia and muscle spasms are two common and unfavorable medical signs. Botulinum toxin injection in other movement disorders characterized by voluntary or abnormal muscle contractions has resulted in promising results in the treatment of several movement disorders related to a variety of mobility disorders. The effectiveness of BTX-A in the treatment of multiple focal dystonia and muscle spasm disorders has been improved to varying degrees after injection of Botox or botulinum toxin type A, but Botox or CBTx. In 60% of patients, other forms of focal dystonia and spasticity also showed significant functional improvement. Most patients see results within a week after BTX-A injection, symptoms gradually improve, the bridge of curative action is reached in 2-4 weeks, and the healing process lasts for about 3-5 months on average.

Source link: https://doi.org/10.1155/2022/1495807


A case of novel DYT6 dystonia variant with serious complications after deep brain stimulation therapy: a case report

Abstract Background DYT6 dystonia is a component of a cluster of rare, genetically determined, generalized dystonia linked to mutations in the THAP1 gene. Case presentation We present the case of a young patient with DYT6 dystonia associated with a newly found c14G mutation. The associated difficulties have not been reported so far in published case reports of patients with DYT6 dystonia. Genetic heterogeneity of the disease may also play a key role in predicting the clinical phenotype and the effects of therapy, including DBS.

Source link: https://doi.org/10.1186/s12883-022-02871-3


Restoration of functional network state towards more physiological condition as the correlate of clinical effects of pallidal deep brain stimulation in dystonia

Background: Deep brain stimulation of the internal globus pallidus is an expensive therapeutic therapy technique that can retune abnormal central nervous system functions and relieve the patient of dystonic or other motor signs. Methods: This open-label fixed-order research with cross-sectional validation against healthy controls examined the resting-state functional MRI enhancements induced by GPi DBS in 18 dystonia patients of heterogeneous aetiology, focusing on both global and local connectivity. Nonetheless, GPi DBS did indeed seem to bring local connectivity both in the cortical and subtical areas farther away from the state's boundaries, which were otherwise unaffected in healthy controls. Conclusions: All in all, the degree of rehabilitation of both these key measures of interest toward those in healthy controls was clearly linked to clinical change, suggesting that the change of network state toward more physiological conditions may be a precondition for successful GPi DBS results in dystonia.

Source link: https://doi.org/10.1016/j.brs.2022.08.025


Cognitive impairment in Chinese patients with cervical dystonia

In several studies, however, objectiveCognitive impairment in patients with cervical dystonia has been documented, but with inconsistent results. FindingsWe discovered that 42 patients with CD had CI. A cluster analysis was performed to see the difference within the group of CD patients with CI. CI patients with CI were older, less literate, had an earlier age of onset, more frequent motor signs, and disability, and suffered more pain than CD patients without CI. The presence of CI in patients with CD was attributed to less education and a higher Toronto Spasmodic Torticollis Rating Scale severity subscore. Patients with CD was found with less education and more frequent motor signs, and patients with CI in the current study could be further divided into two subgroups based on the degree and domain of cognitive decline.

Source link: https://doi.org/10.3389/fneur.2022.961563


Increased movement-related signals in both basal ganglia and cerebellar output pathways in two children with dystonia

It's unknown if the role of various brain regions in movement abnormalities in children with dystonia is unclear. A rhythmic figure-8 drawing exercise was performed by three awake subjects undergoing depth electrode implantation for evaluation of potential deep brain recording targets. Both children with dystonia and those without dystonia showed greater task-related involvement in GPi and Vim in comparison to the controls without dystonia. Our findings also show that frequency analysis of brain recordings during cyclic rides may be a useful tool for determining the presence of movement-related signals in various brain regions.

Source link: https://doi.org/10.3389/fneur.2022.989340

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions