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. 2022 Jan;29(1):91-104.
doi: 10.1111/ene.15114. Epub 2021 Oct 15.

Adult-onset idiopathic dystonia: A national data-linkage study to determine epidemiological, social deprivation, and mortality characteristics

Grace A Bailey  1 , Anna Rawlings  2 , Fatemeh Torabi  2   3 , Owen Pickrell  2   4 , Kathryn J Peall  1
Affiliations

Adult-onset idiopathic dystonia: A national data-linkage study to determine epidemiological, social deprivation, and mortality characteristics

Grace A Bailey et al. Eur J Neurol. 2022 Jan.

Abstract

Background and purpose: Accurate epidemiological information is essential for the improved understanding of dystonia syndromes, as well as better provisioning of clinical services and providing context for diagnostic decision-making. Here, we determine epidemiological, social deprivation, and mortality characteristics of adult-onset idiopathic dystonia in the Welsh population.

Methods: A retrospective population-based cohort study using anonymized electronic health care data in Wales was conducted to identify individuals with dystonia between 1 January 1994 and 31 December 2017. We developed a case-ascertainment algorithm to determine dystonia incidence and prevalence, as well as characterization of the dystonia cohort, based on social deprivation and mortality.

Results: The case-ascertainment algorithm (79% sensitivity) identified 54,966 cases; of these cases, 41,660 had adult-onset idiopathic dystonia (≥20 years). Amongst the adult-onset form, the median age at diagnosis was 41 years, with males significantly older at time of diagnosis compared to females. Prevalence rates ranged from 0.02% in 1994 to 1.2% in 2017. The average annual incidence was 87.7/100,000/year, increasing from 49.9/100,000/year (1994) to 96.21/100,000/year (2017). In 2017, people with dystonia had a similar life expectancy to the Welsh population.

Conclusions: We have developed a case-ascertainment algorithm, supported by the introduction of a neurologist-reviewed validation cohort, providing a platform for future population-based dystonia studies. We have established robust population-level prevalence and incidence values for adult-onset idiopathic forms of dystonia, with this reflecting increasing clinical recognition and identification of causal genes. Underlying causes of death mirrored those of the general population, including circulatory disorders, respiratory disorders, cancers, and dementia.

Keywords: dystonia; incidence; mortality; prevalence; socioeconomic factors.

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Conflict of interest statement

The authors report no conflicts of interest.

Figures

FIGURE 1
FIGURE 1
Flow diagram of cohort development . Green, blue, and yellow boxes: primary and secondary health data records; purple boxes: dystonia cohort population; orange boxes: exclusion criteria; red boxes: sensitivity analysis. GP, general practice, ICD‐10, International Classification of Diseases, 10th Revision; OPD, Outpatient Dataset; PEDW, Patient Episode Database for Wales; SAIL, Secure Anonymised Information Linkage; WDSD, Welsh Demographic Service Dataset; WLGP, Welsh Longitudinal General Practice dataset; WOB, week of birth
FIGURE 2
FIGURE 2
Trends in (a) incidence and (b) prevalence for adult‐onset idiopathic dystonia by sex and dystonia subtype. (i) Overall dystonia. (ii) Cervical dystonia. (iii) Tremor associated with dystonia. (iv) Blepharospasm (masked in 1994). (v) Other/unspecified (incidence masked <2004; prevalence masking in 1994 and 1995)
FIGURE 3
FIGURE 3
(a) Change in Welsh Index of Multiple Deprivation (WIMD) quintile and (b) number of cases per WIMD quintile at entry into dataset (during study period) and diagnosis by dystonia subtype in adult‐onset forms. (i) Overall dystonia. (ii) Cervical dystonia. (iii) Tremor associated with dystonia. (iv) Blepharospasm. (v) Other/unspecified. Change in WIMD quintile = (WIMD quintile at time of diagnosis) – (WIMD quintile at end of follow‐up). WIMD Quintile 1 is most deprived, and Quintile 5 is least deprived
FIGURE 4
FIGURE 4
(a) Change in Welsh Index of Multiple Deprivation (WIMD) quintile and (b) number of cases per WIMD quintile at diagnosis and follow‐up by dystonia subtype in adult‐onset forms. (i) Overall dystonia. (ii) Cervical dystonia. (iii) Tremor associated with dystonia. (iv) Blepharospasm. (v) Other/unspecified. Change in WIMD quintile = (WIMD quintile at entry) – (WIMD quintile at time of diagnosis). WIMD Quintile 1 is most deprived, and Quintile 5 is least deprived
FIGURE 5
FIGURE 5
Mortality data of cases including leading underlying causes of death and proportions of death categorized by causes in adult‐onset idiopathic dystonia. (a) General population in Wales (2017). (b) Overall dystonia. (c) Cervical dystonia. (d) Tremor associated with dystonia. (e) Blepharospasm. (f) Other/unspecified. COPD, Chronic Obstructive Pulmonary Disease, SSAF, symptoms, signs, and abnormal clinical and laboratory findings, not elsewhere classified
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References

    1. Junker J, Berman BD, Hall J, et al. Quality of life in isolated dystonia: non‐motor manifestations matter. J Neurol Neurosurg Psychiatry. 2021. 92:622–628. https://jnnp.bmj.com/content/early/2021/02/09/jnnp‐2020‐325193 - PMC - PubMed
    1. van den Dool J, Tijssen MAJ, Koelman JHTM, Engelbert RHH, Visser B. Determinants of disability in cervical dystonia. Parkinsonism Relat Disord. 2016;32:48‐53. https://www.sciencedirect.com/science/article/pii/S1353802016303182 - PubMed
    1. Defazio G. The epidemiology of primary dystonia: current evidence and perspectives. Eur J Neurol. 2010;17:9‐14. - PubMed
    1. Steeves TD, Day L, Dykeman J, Jette N, Pringsheim T. The prevalence of primary dystonia: a systematic review and meta‐analysis. Mov Disord. 2012;27(14):1789‐1796. - PubMed
    1. Nutt JG, Muenter MD, Aronson A, Kurland LT, Melton LJ. Epidemiology of focal and generalized dystonia in Rochester, Minnesota. Mov Disord. 1988;3(3):188‐194. - PubMed

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