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Genetic Update and Treatment for Dystonia.

Authors :
Koptielow J
Szyłak E
Szewczyk-Roszczenko O
Roszczenko P
Kochanowicz J
Kułakowska A
Chorąży M
Source :
International journal of molecular sciences [Int J Mol Sci] 2024 Mar 22; Vol. 25 (7). Date of Electronic Publication: 2024 Mar 22.
Publication Year :
2024

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.

Details

Language :
English
ISSN :
1422-0067
Volume :
25
Issue :
7
Database :
MEDLINE
Journal :
International journal of molecular sciences
Publication Type :
Academic Journal
Accession number :
38612382
Full Text :
https://doi.org/10.3390/ijms25073571