Koptielow, J.; Szyłak, E.; Szewczyk-Roszczenko, O.; Roszczenko, P.; Kochanowicz, J.; Kułakowska, A.; Chorąży, M. Focal Dystonia – an Update of Genetic Background and Novel Treatment. Preprints2024, 2024011610. https://doi.org/10.20944/preprints202401.1610.v1
APA Style
Koptielow, J., Szyłak, E., Szewczyk-Roszczenko, O., Roszczenko, P., Kochanowicz, J., Kułakowska, A., & Chorąży, M. (2024). Focal Dystonia – an Update of Genetic Background and Novel Treatment. Preprints. https://doi.org/10.20944/preprints202401.1610.v1
Chicago/Turabian Style
Koptielow, J., Alina Kułakowska and Monika Chorąży. 2024 "Focal Dystonia – an Update of Genetic Background and Novel Treatment" Preprints. https://doi.org/10.20944/preprints202401.1610.v1
Abstract
Dystonia is a neurological disorder that results in atypical uncontrolled motions or postures caused by either continuous or intermittent contractions of the muscles. Subtypes of dystonia vary in their symptoms and severity; they can affect people of all ages and cause significant disability and poor quality of life. Identifying genes responsible for single or mixed dystonia variants has improved our understanding of its pathogenesis. The mechanisms underlying several of the most prevalent genetic dystonias, including idiopathic dystonia, TOR1A, THAP1, and KMT2B mutations, involve anomalies in transcriptional regulation, striatal dopaminergic signaling, synaptic plasticity, and a loss of inhibition at neuronal circuits. Dystonia is mostly diagnosed based on clinical indicators, and the diagnosis and etiology of this illness remain a problem. In this review, we tried to summarize novel updates about genetic causes and treatment of focal dystonia.
Medicine and Pharmacology, Neuroscience and Neurology
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
