New developments in diagnostics and treatment of adult-onset focal dystonia

Centen, Liesanne M; Egmond, Martje E van; Tijssen, Marina A. J.

doi:10.1097/wco.0000000000001165

Cited by 4 publications

(4 citation statements)

References 57 publications

(76 reference statements)

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“…The growing number of recently identified genes linked to dystonia complicates the diagnosis process. The goal of recent initiatives has been to advance the development of algorithms and recommendations to help with diagnosis and with utilizing diagnostic instruments [56].…”

Section: Diagnostic Of Dystoniamentioning

confidence: 99%

Genetic Update and Treatment for Dystonia

Koptielow,

Szyłak,

Szewczyk-Roszczenko

et al. 2024

IJMS

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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.

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Section: Diagnostic Of Dystoniamentioning

confidence: 99%

Genetic Update and Treatment for Dystonia

Koptielow,

Szyłak,

Szewczyk-Roszczenko

et al. 2024

IJMS

View full text Add to dashboard Cite

show abstract

Section: Diagnostic Of Dystoniamentioning

confidence: 99%

Focal Dystonia – an Update of Genetic Background and Novel Treatment

Koptielow,

Szyłak,

Szewczyk-Roszczenko

et al. 2024

Preprint

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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.

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“…Advances in research, including the use of artificial intelligence and smart devices, aim to improve diagnostic processes, treatment efficacy, and patient outcomes [ 6 , 7 ]. Accurate phenotyping, classification, and novel diagnostic algorithms are crucial for personalized and effective treatments that will ultimately enhance the quality of life of those affected [ 8 , 9 ].…”

Section: Introductionmentioning

confidence: 99%

Health-Related Quality of Life in Romanian Patients with Dystonia: An Exploratory Study

Băjenaru,

Nuță,

Băjenaru

et al. 2024

JCM

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Background/Objectives: Dystonia is a neurological movement disorder characterized by involuntary muscle contractions that lead to abnormal movements and postures; it has a major impact on patients’ health-related quality of life (HRQoL). The aim of this study was to examine the HRQoL of Romanian patients with dystonia using the EQ-5D-5L instrument. Methods: Responses to the EQ-5D-5L and the visual analogue scale (VAS) were collected alongside demographic and clinical characteristics. Health profiles were analyzed via the metrics of the EQ-5D-5L, severity levels, and age groups. Using Shannon’s indexes, we calculated informativity both for patients’ health profile as a whole and each individual dimension. Level sum scores (LSS) of the EQ-5D-5L were calculated and compared with scores from the EQ-5D-5L index and VAS. The HRQoL measures were analyzed through demographic and clinical characteristics. Descriptive statistics, Spearman correlation, and non-parametric tests (Mann–Whitney U or Kruskall–Wallis H) were used. The level of agreement between HRQoL measures was assessed using their intraclass correlation coefficient (ICC) and Bland–Altman plots. Results: A sample of 90 patients was used, around 75.6% of whom were female patients, and the mean age at the beginning of the survey was 58.7 years. The proportion of patients reporting “no problems” in all five dimensions was 10%. The highest frequency reported was “no problems” in self-care (66%), followed by “no problems” in mobility (41%). Shannon index and Shannon evenness index values showed higher informativity for pain/discomfort (2.07 and 0.89, respectively) and minimal informativity for self-care (1.59 and 0.68, respectively). The mean EQ-5D-5L index, LSS, and VAS scores were 0.74 (SD = 0.26), 0.70 (SD = 0.24), and 0.61 (SD = 0.21), respectively. The Spearman correlations between HRQoL measures were higher than 0.60. The agreement between the EQ-5D-5L index and LSS values was excellent (ICC = 0.970, 95% CI = 0.934–0.984); the agreement was poor-to-good between the EQ-5D-5L index and VAS scores (ICC = 683, 95% CI = 0.388–0.820), and moderate-to-good between the LSS and VAS scores (ICC = 0.789, 95% CI = 0.593–0.862). Conclusions: Our results support the utilization of the EQ-5D-5L instrument in assessing the HRQoL of dystonia patients, and empirical results suggest that the EQ-5D-5L index and LSS measure may be used interchangeably. The findings from this study highlight that HRQoL is complex in patients with dystonia, particularly across different age groups.

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New developments in diagnostics and treatment of adult-onset focal dystonia

Cited by 4 publications

References 57 publications

Genetic Update and Treatment for Dystonia

Genetic Update and Treatment for Dystonia

Focal Dystonia – an Update of Genetic Background and Novel Treatment

Health-Related Quality of Life in Romanian Patients with Dystonia: An Exploratory Study

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