• Vittorio Velucci, Sarah Idrissi, Roberta Pellicciari, Marcello Esposito, Assunta Trinchillo, Daniele Belvisi, Giovanni Fabbrini, Gina Ferrazzano, Carmen Terranova, Paolo Girlanda, Giovanni Majorana, Vincenzo Rizzo, Francesco Bono, Giovanni Idone, Vincenzo Laterza, Laura Avanzino, Francesca Di Biasio, Roberta Marchese, Anna Castagna, Marina Ramella, Christian Lettieri, Sara Rinaldo, Maria Concetta Altavista, Luigi Polidori, Laura Bertolasi, Maria Chiara Tozzi, Roberto Erro, Paolo Barone, Pierangelo Barbero, Roberto Ceravolo, Marcello Mario Mascia, Tommaso Ercoli, Antonella Muroni, Carlo Alberto Artusi, Maurizio Zibetti, Cesa Lorella Maria Scaglione, Anna Rita Bentivoglio, Maria Sofia Cotelli, Luca Magistrelli, Giovanni Cossu, Alberto Albanese, Giovanna Maddalena Squintani, Tommaso Schirinzi, Angelo Fabio Gigante, Luca Maderna, Roberto Eleopra, Antonio Pisani, Daniela Cassano, Marcello Romano, Marina Rizzo, Alfredo Berardelli, Giovanni Defazio, and Italian Dystonia Registry Participants.
• Department of Translational Biomedicine and Neuroscience, University of Bari Aldo Moro, Bari, Italy vittoriovelucci@gmail.com.
• J. Neurol. Neurosurg. Psychiatr. 2024 Mar 1.

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.© Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ.

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