1. Introduction
Dystonia is a complex neurological disorder characterized by involuntary muscle contractions that can lead to abnormal movements and postures [
1,
2]. It can manifest as an isolated condition or alongside other neurological disorders such as stroke [
3], Parkinson’s disease (PD) [
4], and multiple sclerosis (MS) [
5]. Dystonia can occur post-stroke, as an early sign of PD, or as a side effect of PD treatments like levodopa. In MS patients, dystonia complicates the management of symptoms and significantly impacts the quality of life. Treatment options include pharmacotherapy, botulinum toxin injections, and rehabilitation services. For patients suffering with movement disorders, comprehensive neurological evaluations are essential for improving our understanding of the links between such disorders. 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].
Dystonia is a multifaceted movement disorder characterized by a wide range of symptoms and significant effects on patients’ quality of life. Understanding its various causes—whether idiopathic, genetic, resulting from injury, or drug-induced—is vital to the creation of effective treatment and management approaches. Providing comprehensive care that addresses both motor and non-motor symptoms is essential as we seek to improve the well-being of those affected by dystonia [
1,
10].
Studying the health-related quality of life (hereafter, HRQoL) of patients with dystonia is essential for the comprehensive understanding of the disorder’s effects, guiding patient-centered clinical management, informing healthcare policy, and contributing to a more holistic approach to neurological disease research that prioritizes patient well-being and quality of life [
8]. This broader perspective is crucial for developing effective interventions and support systems that address the needs of individuals with dystonia and other neurological conditions [
11].
Investigating HRQoL in patients with dystonia is essential due to the complex nature of this neurological disorder and its significant impact on daily living [
6]. The involuntary muscle contractions specific to this disease significantly affect the physical, psychological, and social well-being of patients [
12]. Some critical elements of dystonia influence HRQoL and thus indicate the importance of studying HRQoL in the broader context of neurological diseases; these elements may take the form of motor symptoms (muscle spasms, tremors, and involuntary movements); non-motor symptoms (psychological conditions such as anxiety, depression); pain and discomfort; and difficulties in social interaction and employment [
11].
In Europe, the study of dystonia and its impact on the quality of life has been robust, being supported by a network of research institutions, hospitals, and patient organizations. European researchers have contributed significantly to our collective understanding of dystonia’s genetic factors, with several studies focusing on the prevalence, diagnosis, and management of dystonia in different European populations. The European Dystonia Federation, for example, plays a pivotal role in raising awareness, supporting research, and advocating for patient care across the continent [
13,
14].
In Romania, the medical community is increasingly recognizing the significance of neurological disorders including dystonia [
15,
16]. An analysis of the quality of healthcare in Romania compared to other countries will help to contextualize the specific challenges of managing dystonia within the Romanian healthcare system [
17].
The EQ-5D, developed by the EuroQol Group [
18], is used to assess the quality of life in patients with neurological disorders. The five-level version (EQ-5D-5L) introduced in 2009 evaluates five dimensions of health-related quality of life: mobility, self-care, usual activities, pain/discomfort, and anxiety/depression [
19]. It also includes a visual analog scale (EQ VAS) that provides a quantitative measure of health outcomes based on patients’ perceptions [
20].
Upon searching PubMED, ScienceDirect, and Web of Science, we identified only a few studies published in the last five years that used EQ-5D-5L in patients with dystonia. One multicenter observational study conclusively demonstrated that benign essential blepharospasm (BEB), a form of dystonia characterized by involuntary muscle contractions around the eyes, significantly impairs the quality of life (QoL) of affected individuals. This impact was evident in several areas such as mobility, usual activities, pain/discomfort, and anxiety/depression, all measured by the EQ-5D-5L instrument. The utility of using the EQ-5D-5L as an assessment of the QoL lies in its ability to effectively capture these effects [
21]. The aforementioned study’s findings underscore the efficacy of botulinum toxin type A (BTX-A) in alleviating the debilitating effects of BEB, supporting its inclusion in health coverage policies to ensure broader access and improved patient outcomes in Thailand.
A large cross-sectional study from China explored the impact of cervical dystonia (CD) on patients’ quality of life using the EQ-5D-5L instrument. The study involved 333 patients and found that the most frequently affected dimensions of health were anxiety/depression, pain/discomfort, and usual activities. It highlighted the significant role of non-motor symptoms such as depression, pain, and sleep quality in determining QoL in patients with CD. The EQ-5D-5L as an evaluator of the QoL was shown to be effective in describing these symptoms, underscoring its utility in assessing the health-related quality of life in patients with cervical dystonia [
22].
Another study validated the EQ-5D-5L’s capacity to assess the quality of life in acute stroke patients through a cross-sectional analysis of 408 participants [
23]. Compared to the EQ-5D-3L, the EQ-5D-5L showed improved discriminatory power, especially in the dimensions of pain/discomfort and anxiety/depression. It demonstrated feasibility, construct validity, and strong convergence with established stroke measures like the modified Rankin Scale and the Barthel Index of patient care. The effectiveness and utility of the EQ-5D as a comprehensive tool for HRQoL assessment was also demonstrated in the study [
24], providing valuable insights in health assessments and informing policy decisions.
Maione and colleagues [
10] explored how non-motor symptoms (NMSs) significantly affect the quality of life of patients with cervical dystonia (CD). The authors reviewed studies from major databases and found that NMSs are critical predictors of a decline in the QoL, often more so than motor symptoms. They thus indicate the need for a comprehensive approach to managing CD that includes the NMS approach to improve patient well-being; the authors also recommended that further research into these symptoms be carried out to improve clinical management and treatment outcomes.
The efficacy of botulinum toxin treatment in improving the quality of life of dystonia patients has been proven by measuring changes in EQ-5D-5L scores, with a particular focus on the dimensions of physical mobility and self-care [
25]. The effects of botulinum toxin (BoNT) injections on the health-related quality of life in patients on the spectrum of complex spasticity were analyzed using the EQ-VAS and EQ-5D-5L. The results showed that BoNT improved the EQ visual analog scale (EQ VAS) scores. In addition, the health status and pain maxima improved.
The literature indicates a significant association between dystonia and the presence of anxiety and depression. The chronic nature of the disorder, along with the unpredictability of symptoms and societal stigma, can lead to psychological distress, further impacting patients’ quality of life. Non-motor symptoms, namely psychological distress (anxiety and depression) and deficiencies in cognitive and social functioning, are among the distinct characteristics of cervical dystonia [
26]. Depression in patients with focal-onset idiopathic dystonia has been shown to contribute to the worsening of disease symptoms [
27,
28].
Numerous studies have emphasized the significant impact of idiopathic dystonia on the quality of life, the efficacy of treatments such as botulinum toxin and deep brain stimulation in enhancing it, and the critical importance of routinely assessing and monitoring quality of life in patients with dystonia for informing management and treatment decisions [
29].
The outcomes of these studies have shown the utility of QoL assessment in clinical practice; moreover, they suggest measures to be implemented by professionals that may induce an increase in the QoL. Although dystonia research has advanced significantly in recent years, several gaps remain in our current understanding and management of the condition. Such gaps mainly exist in our understanding of the full impact of dystonia beyond its motor symptoms and may be remedied by integrating patient perspectives into care and encouraging international collaboration for optimal research and treatment approaches. Comprehensive understanding of non-motor symptoms and their impact on health and the associated HR-QoL is a crucial consideration.
This paper substantially expands upon a previous work [
30] that presented a shorter analysis of the impact of dystonia on the quality of life of patients in Romania.
4. Discussion
This study, using the EQ-5D-5L instrument at a neurology clinic, addresses the gap in our understanding and reporting of health-related quality of life in patients with dystonia, a topic not previously reported in Romania or other countries.
The findings showed that dystonia patients reported problems across various dimensions of the EQ-5D-5L, ranging from “slight” to “extreme”. The highest frequency of issues was reported in the pain/discomfort dimension (82.2%), while the lowest was in the self-care dimension (34.4%). Overall, more than half of the patients reported problems in all dimensions except for self-care, indicating poor perceptions of their own health. The ordered sequence of the most reported health problems (pain/discomfort, usual activities, anxiety/depression, mobility, and self-care) showed similarity to the findings of a previous study [
22] that reported the highest frequencies in the dimensions of anxiety/depression (73.6%) and pain/discomfort (68.2%).
Pain is an important feature of dystonia, resulting from continuous muscle contractions and excessive strain on musculoskeletal structures and leading to fatigue, tension, and the deterioration of muscle function. Compared to other dimensions of the quality of life, such as mobility, self-care, daily activities, and psychosocial problems (anxiety and depression), pain and discomfort have a more pronounced impact. Studies using instruments other than the EQ-5D-5L to measure quality of life have shown that patients with dystonia describe pain as their main concern, placing greater importance on it than other aspects such as mobility or anxiety/depression [
39,
40].
Although mobility and self-care are often impaired in dystonia, its impact on the quality of life can be mitigated through strategies and treatments. In contrast, pain is more difficult to control and can have a cascading effect on individuals’ emotional state and ability to maintain daily activities, thereby intensifying feelings of anxiety and depression.
In the context of dystonia, research has generally shown that while pain, mobility, and social participation are significantly affected, patients may experience less difficulty in self-care. This is due to the nature of dystonia, which, depending on its type and severity, may not always severely limit an individual’s ability to perform personal care tasks [
38].
Our results indicated that approximately 90% of patients who reported problems (any problems) with pain/discomfort and usual activities were in the age group ≤ 54 years. Problems with self-care were the least frequent, with 24.3% of patients reporting problems in the 65+ year age group. Surprisingly, except for the dimension of pain/discomfort, the percentage of reported health problems (any problems) decreased with age in each dimension. However, age-related patterns differed between male patients and female patients. Problems were reported more frequently by female patients than male patients across all dimensions, with the most significant difference observed in the aspect of self-care (35.3% vs. 31.8%) and the performance of usual activities (67.6% vs. 63.6%). These findings are in contrast with those of previous studies that have reported an increase in the percentage of problems (of any kind) reported via the EQ-5D-5L [
41].
Research and clinical observations suggest several factors that may contribute to the improvement or variation in dystonia symptoms over time, including age at onset, comorbidities, and motor and non-motor symptoms. Also among these factors are genetic factors and comorbidities (such as Wilson’s disease [
42,
43], which in our study’s case was impossible to investigate). Each of these factors underscores the complexity of dystonia as a condition and the need for individualized approaches to treatment. The variability in the progression of symptoms and patients’ response to treatment highlights the importance of comprehensive diagnostic evaluations that include genetic testing and careful consideration of the patient’s history and symptoms upon presentation.
Closely related to these findings, the Shannon index and Shannon evenness index indicated greater informativity in the pain/discomfort dimension and less informativity in the dimension of self-care. Considering the sample size (N = 90), we found a large number of unique health states (65), indicating that the patients were heterogeneous in terms of their health profiles. The dispersion of patients’ profile data across numerous profiles suggests that individualized treatment approaches may be necessary. Our observations of different EQ-5D-5L health profiles emphasize the complexity of HRQoL in dystonia patients, particularly across different age groups.
Our results show that dystonia has an important impact on the HRQoL in Romanian patients, with a mean EQ-5D-5L index of 0.74, a mean VAS score of 0.61, and a mean LSS of 0.70.
In this study, the mean EQ-5D-5L index (0.74) was lower than the overall value for the general Romanian population (0.82), as reported in [
32]; in addition, the mean was higher for females (0.75) than for males (0.70). This suggests that patients with dystonia have lower HRQoL than the average Romanian. When comparing our results with those of previous studies, the mean EQ-5D-5L index was approximately similar to that observed in a Mexican study of patients with Parkinson’s disease (0.71) [
44] and in a Japanese study of patients with systemic sclerosis (0.74) [
45]. However, the mean was considerably higher than the value of 0.58 reported in people with multiple sclerosis from New Zealand [
46] and Australia [
47]. The mean was lower than that in a study from the USA focusing on patients with oromandibular dystonia, (0.81) [
48] and in a study from China focusing on patients with cervical dystonia (0.80) [
22]. These differences in scores might be due to differences in preference-based value sets, socio-economic context, older age at onset, and longer durations of disease in this study. Further research comparing patients with dystonia and patients with other neurological diseases is needed.
The mean VAS (unscaled) value in this study (61.1) was considerably lower than found in other studies (73.8 [
44], 69.2 [
45], 70.0 [
49], 70.2 [
22], 69.4 [
46], and 68.7 [
47]). In our study, the EQ VAS score was higher for females (61.7) than for males (59.3). It should be noted that the maximum score for the VAS (1.00, perfect health) was reported by only two patients out of a total of nine patients who recorded the maximum value (1.000) for the EQ-5D-5L index. This result aligns with observations made in [
50], where some respondents who reported no problems in any of the EQ-5D-5L dimensions gave a VAS health rating of less than 1.00. These differences in scores may be due to the type of disorder and the high frequency of comorbidities in dystonia patients in our study.
We observed that the VAS measure resulted in lower mean scores than the EQ-5D-5L index scores, which confirms the findings of a relatively recent review in patients with neurological disease [
51]. As noted by authors, “the two measures should not be directly compared as they reflect different preferences: while the index value reflects how good or bad the health state is according to the preferences of the general population of a country/region, VAS reflects patient’s subjective values of a health state” [
51].
Regarding the LSS measure, the mean score was lower than the EQ-5D-5L index score, but higher than the VAS score. Associations between LSS values and demographic and clinical characteristics followed a similar pattern to that of EQ-5D-5L index values, including increases and/or decreases in relation to age groups. The EQ-5D-5L index and LSS measures had the ability to detect differences between subgroups such as age at the beginning of the survey, age of onset, type of disorder, and disease duration. Nevertheless, only the VAS presented significant differences between patients without comorbidities and patients with two or more comorbidities.
A recent study [
34] demonstrated the feasibility of collating the dimensions of the EQ-5D-5L into a level summary score using nonparametric item response theory. Many other previous studies have concurrently analyzed the EQ-5D-5L index and LSS [
52,
53,
54]. As noted by [
34], the LSS has both advantages (e.g., simplicity, no algorithm required to estimate the LSS) and limitations (e.g., “two patients may have the same LSS score, but one may have extreme problems in a single dimension, whereas the other may have slight problems in several dimensions”).
We observed that the mean EQ-5D-5L index and LSS values increased from 0.66 and 0.62 (age group ≤ 54 years) to 0.80 and 0.77 (age group 65+ years), respectively. The mean VAS was approximately similar in each age group (0.60, 0.62, and 0.61, respectively). This pattern was not so different from results gleaned from samples of the US adult general population [
55,
56] as well as a sample of patients with acute stroke in Poland [
23]; in such samples, a lower EQ-5D-5L score was observed in patients up to 60 years of age when compared with patients aged 61–70 years. This result differs from the previous studies. In this study, such a pattern may be explained by the lower reported degrees of pain/discomfort and self care with increasing age and sets of values. Furthermore, it is possible that this finding results from health problems in patients with dystonia that are not covered by the five dimensions of the EQ-5D-5L.
All three HRQOL measures reflected a similar pattern: a decrease in quality of life with an increase in the number of comorbidities. This result is in accordance with previous studies [
53,
54]. However, only the VAS scores were statistically significant. This suggests that the VAS is more sensitive regarding the frequency of chronic health conditions.
As expected, we found a statistically significant positive correlation between the EQ-5D-5L index and VAS scores (0.61), which was consistent with previous studies [
33,
44,
46,
47] and indicates both measures’ reliability in estimating HRQoL. Patients “understood the meaning of the VAS scale and made reasonable choices based on their understanding”, as noted by [
57]. In addition, we found a significant correlation between VAS and LSS (0.64) and a very strong significant correlation between EQ-5D-5L index and LSS (0.99), which was consistent with a previous study [
33].
The agreement between the paired HRQoL measures was different. Our results showed excellent agreement between EQ-5D-5L index and LSS, poor to good agreement between the EQ-5D-5L index and VAS scores, and moderate to good agreement between the LSS and VAS values. The Bland–Altman plots confirmed these findings across the whole sample. However, some large differences emerged at the individual level. The results suggested that the EQ-5D-5L index and LSS measure may be used interchangeably. Previous investigations, as noted by [
34], found substantial agreement and similar psychometric properties between the LSS and EQ-5D-5L index.
This is the first study of HRQoL in patients with dystonia using the EQ-5D-5L instrument and the Romanian value set. The foremost strength of our study lies in the applicability of the EQ-5D-5L and the utilization of the Romanian value set for calculating the EQ-5D-5L index and the analysis of three HRQoL measures (VAS, EQ-5D-5L index, and Level Sum Score) on the same data set.
The study of HRQoL in patients with dystonia is essential for greater understanding of the disorder’s effects, guiding patient-centered clinical management, and informing healthcare policy. Our study showed that problems with pain and discomfort were reported most frequently and had the most pronounced impact on HRQoL in patients with dystonia. The dispersion of patients’ profile data across numerous health profiles suggests that individualized treatment approaches may be necessary, thereby confirming findings from other studies [
22,
39,
40].
Overall, the mean EQ-5D-5L index in this study was lower than the value for the broader Romanian population [
32] and was lower those reported in other studies of neurological conditions. In addition, the VAS measure produced lower mean scores than the EQ-5D-5L index, which confirms the findings of a review of patients affected by neurological disease [
51]. The EQ-5D-5L index and LSS measures showed the ability to detect differences between subgroups separated by factors such as age at the beginning of the survey, age of onset, type of disorder, and disease duration. Moreover, our study showed excellent agreement between the EQ-5D-5L index and LSS measure, in line with a previous study [
34].
The EQ-5D-5L instrument has the potential utility for patients with neurological conditions, and the integration of HRQoL measurement using the EQ-5D-5L in dystonia-related clinical practice could be helpful for economic evaluation of dystonia interventions. Clinicians and policy makers can use the EQ-5D-5L instrument to track the progress of patients with dystonia throughout treatment and to compare the health status of different demographic groups. The EQ-5D-5L scale offers significant advantages in evaluating patients with dystonic movements due to its ease of administration by any competent physician or evaluator. This scale is crucial for monitoring patients’ health over time, providing a standardized method of assessing various aspects of health and determining the appropriate referral pathways.
The scale facilitates decision-making regarding patients’ referral either to a neurologist for botulinum toxin treatment, to a medical rehabilitation service, or to a psychologist. Specifically, if the score for pain/discomfort caused by dystonia is high, the patient should be referred for neurological revaluation and potential botulinum toxin treatment. If the mobility score is high, the patient should be directed to medical rehabilitation; if this is coupled with high pain scores, they should first see a neurologist before proceeding to rehabilitation. In cases with high self-care scores, referral to medical rehabilitation and home support is recommended. High scores for psychosocial problems, such as anxiety or depression, necessitate referral to a psychologist or psychiatrist.
The long-term application of the EQ-5D-5L scale enables dynamic evaluation of patients and assessment of treatment efficacy and its impact on quality of life. Furthermore, the profile of the studied group serves as a valuable reference for current evaluations, allowing clinicians to compare individual patient data with established benchmarks from the study. This comparative approach will enhance the precision and relevance of patient assessments, ultimately contributing to improved clinical outcomes.
Our study, however, has several limitations. Firstly, the sample size and the patient groups might have been insufficient, such that the apparent differences within small groups did not always reach statistical significance. For example, the imbalance between the number of male and female patients has an important influence on the HRQoL and can lead to highly variable results. Secondly, as our study is a cross-sectional study, any causal relationships remain to be demonstrated. Longitudinal research is needed to better explore this area. Thirdly, our study analyzed patients from only one medical center in one country (Romania). Thus, the findings cannot be generalized to all Romanian patients, even less so to patients from other countries.
Therefore, more research is needed to better understand the HRQoL in patients with dystonia. Further research could investigate the following important areas: (a) studies with larger sample sizes, with patients coming from several medical centers and ensuring the collection of several characteristics related to dystonia (e.g., clinical characteristics, etiology, treatment); (b) studies comparing EQ-5D-5L index values calculated with different national value sets in the same sample, in order to validate the EQ-5D-5L instrument and the methodology promoted by the EuroQOL Group; and (c) longitudinal studies using the EQ-5D-5L in order to identify changes in HRQoL values as a result of the treatments applied in the management and monitoring of patients with dystonia. Additionally, future studies should consider exploring the psychometric properties of the EQ-5D-5L and alternative HRQoL instruments (e.g., SF-36) in dystonia patients in order to demonstrate the validity and utility of these instruments.