Affiliation:
1. Department of Neurology, Medical University of Bialystok, 15-276 Bialystok, Poland
2. Department of Synthesis and Technology of Drugs, Medical University of Bialystok, Kilinskiego 1, 15-089 Bialystok, Poland
Abstract
A neurological condition called dystonia results in abnormal, uncontrollable postures or movements because of sporadic or continuous muscular spasms. Several varieties of dystonia can impact people of all ages, leading to severe impairment and a decreased standard of living. The discovery of genes causing variations of single or mixed dystonia has improved our understanding of the disease’s etiology. Genetic dystonias are linked to several genes, including pathogenic variations of VPS16, TOR1A, THAP1, GNAL, and ANO3. Diagnosis of dystonia is primarily based on clinical symptoms, which can be challenging due to overlapping symptoms with other neurological conditions, such as Parkinson’s disease. This review aims to summarize recent advances in the genetic origins and management of focal dystonia.
Reference99 articles.
1. The Dystonias;Jinnah;Contin. Lifelong Learn. Neurol.,2019
2. Early-Onset Primary Dystonia;Robottom;Handbook of Clinical Neurology,2011
3. The Focal Dystonias: Current Views and Challenges for Future Research;Jinnah;Mov. Disord.,2013
4. Dystonia;Balint;Nat. Rev. Dis. Primer,2018
5. Quality of Life in Focal, Segmental, and Generalized Dystonia;Page;Mov. Disord.,2007
Cited by
1 articles.
订阅此论文施引文献
订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献