What can epidemiological studies teach on the pathophysiology of adult-onset isolated dystonia?

Martino, Davide

doi:10.1016/bs.irn.2023.05.015

Cited by 2 publications

(1 citation statement)

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“…An influence of sex on environmental risk factors possibly triggering focal dystonia in predisposed subjects seems to be more likely, particularly considering that risk factors for different focal dystonia may also variably occur in women and men. 12 Under this scenario, sex differences in the anatomical distribution of dystonia at disease onset and the variability of F:M ratio over time might reflect, at least in part, sex-related differences in the frequency of environmental risk factors. Although environmental risk factors triggering dystonia in predisposed subjects are poorly known, dry eye, a putative risk factor for BSP, is more frequent in aged women 13 14 ; scoliosis, a possible risk factor for CD, seems to occur more frequently in young women 15 ; and certain activities at work that possibly trigger ULD may be more frequently encountered in men, at least in certain societies and historical periods.…”

Section: Discussionmentioning

confidence: 99%

Does sex influence the natural history of idiopathic adult-onset dystonia?

Velucci,

Idrissi,

Pellicciari

et al. 2024

J Neurol Neurosurg Psychiatry

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BackgroundSeveral earlier studies showed a female predominance in idiopathic adult-onset dystonia (IAOD) affecting the craniocervical area and a male preponderance in limb dystonia. However, sex-related differences may result from bias inherent to study design. Moreover, information is lacking on whether sex-related differences exist in expressing other dystonia-associated features and dystonia spread.ObjectiveTo provide accurate information on the relationship between sex differences, motor phenomenology, dystonia-associated features and the natural history of IAOD.MethodsData of 1701 patients with IAOD from the Italian Dystonia Registry were analysed.ResultsWomen predominated over men in blepharospasm, oromandibular, laryngeal and cervical dystonia; the sex ratio was reversed in task-specific upper limb dystonia; and no clear sex difference emerged in non-task-specific upper limb dystonia and lower limb dystonia. This pattern was present at disease onset and the last examination. Women and men did not significantly differ for several dystonia-associated features and tendency to spread. In women and men, the absolute number of individuals who developed dystonia tended to increase from 20 to 60 years and then declined. However, when we stratified by site of dystonia onset, different patterns of female-to-male ratio over time could be observed in the various forms of dystonia.ConclusionsOur findings provide novel evidence on sex as a key mediator of IAOD phenotype at disease onset. Age-related sexual dimorphism may result from the varying exposures to specific age-related and sex-related environmental risk factors interacting in a complex manner with biological factors such as hormonal sex factors.

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Section: Discussionmentioning

confidence: 99%