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Review
. 2024 Mar 22;25(7):3571.
doi: 10.3390/ijms25073571.

Genetic Update and Treatment for Dystonia

Jan Koptielow  1 , Emilia Szyłak  1 , Olga Szewczyk-Roszczenko  2 , Piotr Roszczenko  2 , Jan Kochanowicz  1 , Alina Kułakowska  1 , Monika Chorąży  1
Affiliations
Review

Genetic Update and Treatment for Dystonia

Jan Koptielow et al. Int J Mol Sci. .

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.

Keywords: blepharospasm; cervical dystonia; focal dystonia; oromandibular dystonia; spasmodic dysphonia.

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Conflict of interest statement

The authors declare no conflicts of interest.

Figures

Figure 1
Figure 1
The most frequent locations of dystonia (Created in BioRender.com).
Figure 2
Figure 2
Diagnostic and therapeutic recommendations algorithm by the Italian Society of Neurology, the Italian Academy for the Study of Parkinson’s Disease and Movement Disorders, and the Italian Network on Botulinum Toxin (Created in BioRender.com).
Figure 3
Figure 3
How to differentiate functional dystonia from idiopathic isolated dystonia [60,61] (Created in BioRender.com).
Figure 4
Figure 4
Report of the Guideline Development Subcommittee of the American Academy of Neurology [70]. Recommendations for the use of the listed formulations are given in parentheses (Created in BioRender.com).
See this image and copyright information in PMC

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