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Idiopathic Upper Limb Dystonia – Time for a better understanding

T. Ercoli, R. Pellicciari, G. Fabbrini, G. Ferrazzano, MM. Mascia, R. Eleopra, A. Albanese, R. Erro, P. Barone, L. Avanzino, R. Ceravolo, M. Esposito, L. Bertolasi, C. Scaglione, A.R Bentivoglio, M.C Altavista, F. Bono, P. Girlanda, A. Pisani, M.S Cotelli, B. Minafra, A. Castagna, M. Zibetti, S. Misceo, L. Magistrelli, G. Cossu, M. Coletti Moja, A. Berardelli, G. Defazio (Cagliari, Italy)

Meeting: MDS Virtual Congress 2020

Abstract Number: 126

Keywords: Dystonia: Clinical features

Category: Dystonia: Epidemiology, Genetics, Phenomenology

Objective: This cross-sectional study examined the clinical and demographic features of idiopathic adult-onset upper limb dystonia (ULD) related to onset site, spread, and task-specificity in a large cohort of Italian patients.

Background: Idiopathic ULD may have focal onset or may be site of spread of dystonia arising in other body parts [1]. A remarkable feature of ULD is task-specificity, even though ULD may also develop as a non-task specific dystonia. No large study has evaluated the phenomenological spectrum of ULD.

Method: Data were obtained from the Italian Dystonia Registry [2].

Results: We enrolled 182 patients with idiopathic adult-onset ULD, (92 men/90 women aged 59.4+15.05 years). Focal ULD at onset was reported in 107 patients, segmental onset with upper limb (UL) involvement in 35 patients, and onset in other body regions with later spread to the UL in 40 patients. The three groups did not differ for age at evaluation, educations, age at dystonia onset, and frequency of sensory trick and family history of dystonia. However, men predominated in the group with focal ULD at onset; the latter was also characterized by a greater frequency of task-specificity at onset; by contrast, the group with segmental ULD and focal onset elsewhere was characterized by higher age at UL involvement and greater frequency of tremor and cardiovascular diseases. Age of UL involvement was significantly lower in patients with task-specific ULD than in those who presented with non-task-specific ULD (43+15 vs. 53+16 years, p<0.0001). Among the 107 patients with focal ULD onset, dystonia spread to near sites (most frequently neck and face) in 35 patients over 13.5+13.7 years. Cox regression analysis revealed a significant lower risk of spread in patients who presented with task-specificity.

Conclusion: This study details the clinical presentation of adult-onset ULD with particular reference to onset site, spread, and occurrence of task-specificity.

References: [1] Jinnah HA, Berardelli A, Comella C, Defazio G, Delong MR, Factor S, et al. The focal dystonias: Current views and challenges for future research. Mov Disord. 2013;28(7):926-43. [2] Defazio G, Esposito M, Abbruzzese G, Scaglione CL, Fabbrini G, Ferrazzano G, et al. The Italian Dystonia Registry: rationale, design and preliminary findings. Neurol Sci. 2017;38(5):819-25.

To cite this abstract in AMA style:

T. Ercoli, R. Pellicciari, G. Fabbrini, G. Ferrazzano, MM. Mascia, R. Eleopra, A. Albanese, R. Erro, P. Barone, L. Avanzino, R. Ceravolo, M. Esposito, L. Bertolasi, C. Scaglione, A.R Bentivoglio, M.C Altavista, F. Bono, P. Girlanda, A. Pisani, M.S Cotelli, B. Minafra, A. Castagna, M. Zibetti, S. Misceo, L. Magistrelli, G. Cossu, M. Coletti Moja, A. Berardelli, G. Defazio. Idiopathic Upper Limb Dystonia – Time for a better understanding [abstract]. Mov Disord. 2020; 35 (suppl 1). https://www.mdsabstracts.org/abstract/idiopathic-upper-limb-dystonia-time-for-a-better-understanding/. Accessed May 18, 2025.
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