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Dystonia - Springer Nature

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Last Updated: 25 September 2022

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

Detailed DYT6 dystonia is a subgroup of rare, genetically determinable, generalized dystonia associated with mutations in the THAP1 gene. Case presentation We present the case of a young patient with DYT6 dystonia associated with a newly found c14G > A mutation in the THAP1 gene. The disorder's underlying causes of patients with DYT6 dystonia have not been outlined so far in published case reports. Genetic heterogeneity of the disease may also play a significant role in predicting the development of the clinical phenotype and the effects of therapy, including DBS.

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


Efficacy and safety of long-term botulinum toxin treatment for acquired cervical dystonia: a 25-year follow-up

Botulinum toxin A is the first-line therapy for idiopathic cervical dystonia and is commonly used in the clinical setting. Here we present a long-term follow-up of ACD patients treated with BoNT/A, which concentrated on safety and effectiveness. [abobottulinumtoxinA, incobotulinumtoxinA, and onabotulinumtoxinA] is a subject that had undergone at least six treatments of three commercially available BoNT/A drugs [abobotulinumtoxinA, incobotulinumtoxinA, and onabotulinumtoxinA]. ACD patients with ACD were given 739 treatments in total, with a mean number of treatments of 31 u00b1 20 and a duration of 6 weeks. According to A/Ona's best profile in terms of longevity, it was the best pain relief solution, while A/Abo had the best pain relief effect, according to ANOVA one-way reviews. In 9% of drugs, side effects were present in 9% of patients, with ten treatments complicated by two side effects. And, after 25 years of repeat therapies, all BoNT serotypes have shown positive results in treating ACD with long-lasting efficacy and safety.

Source link: https://doi.org/10.1007/s00415-022-11343-0


Characterizing the temporal discrimination threshold in musician’s dystonia

In several forms of focal dystonia patients, such as cervical dystonia, writer's cramp, or blepharospasm, a determinant of impaired temporal processing and endophenotype has been identified as a predictor of delayed temporal processing and endophenotype. In addition, we compared TDT of the dystonic and non-dystonic hand and fingers in MD patients and then characterized the biomarker for its potential influencing factors, i. e. However, TDTs in MD patients did not differ from both healthy musicians and non-musicians, although pairwise Bayesian t-tests showed no support for group differences in both comparisons. TDTs in MD patients did not correlate with measures of musical engagement, disease variables, or personality profiles, in healthy musicians, and the age of first instrumental practice negatively correlated with visual-tactile TDTs. In conclusion, TDTs in MD patients are difficult to distinguish between healthy musicians and non-musicians, and are not influenced by dystonic appearance, musical performance, disease variations, or personality profiles.

Source link: https://doi.org/10.1038/s41598-022-18739-y


Outcome of pallidal deep brain stimulation for treating isolated orofacial dystonia

Isolated orofacial dystonia is a rare segmental neuropathological disorder that affects the eye, throat, and jaws. The best existing research on pallidal surgery for orofacial dystonia is limited to case reports and small-scale studies. In patients with isolated orofacial dystonia, this research was to investigate the clinical results of deep brain stimulation of the globus pallidus internus. Methods Thirty-six patients who underwent GPi DBS at Incheon St. Mary's Hospital, The Catholic University of Korea, between 2014 and 2019 were included in this research. Burke-Fahn-Marsden Dystonia Rating Scale, Unified Dystonia Rating Scale, and the Global Dystonia Severity Rating Scale were all retrospectively downloaded for evaluation prior to surgery, at a 6-month follow-up as short-term results, and a follow-up after 1 year as long-term results. Conclusions Bilateral GPi DBS in isolated orofacial dystonia can be highly effective if conservative treatment approach fails.

Source link: https://doi.org/10.1007/s00701-022-05320-9


Leber’s hereditary optic neuropathy plus dystonia caused by the mitochondrial ND1 gene m.4160 T > C mutation

Leber's hereditary optic neuropathy is a common mitochondrial disorder. We review a 19-year-old boy with unique LHON plus dystonia syndrome (M. 4136A > G and m. 4160 T > C variants) herein, in order to explain the m. 4160 T > C mutation's molecular pathomechanisms. Results The patient's optical coherence tomography and optical coherence tomography angiography revealed typical pathological changes u2014, including a significant decrease in the 17 thickness of the retinal nerve fiber layer and the ganglion cell complex. The m. 4160 T > C variant was heteroplasmic in the blood, urine sediment, and oral mucosal samples of the patient, according to the genetic analysis. Conclusions These studies complemented our review of the LHON plus phenotype, giving more detailed information to help determine the m. 4160 T > C variant's pathogenicity and broaden our view of the LHON plus phenotype.

Source link: https://doi.org/10.1007/s10072-022-06165-x

* 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