Objective: To analyze the demographic and clinical differences between patients with combined parkinsonism-dystonia and those with isolated idiopathic dystonia.

Background: The current dystonia classification system [1] consists of two axes: axis I refers to clinical characteristics, including forms of isolated and combined dystonia, while axis II addresses etiology, classifying dystonia into inherited, acquired, and idiopathic forms. Although differences in the pathophysiological mechanisms of idiopathic and other forms of dystonia are known to influence clinical characteristics, it remains unclear whether significant differences exist in the clinical spectrum between combined dystonia, specifically parkinsonism-dystonia, and idiopathic forms of dystonia.

Method: Data from 109 patients with combined parkinsonism-dystonia and 876 patients with isolated adult-onset idiopathic dystonia enrolled in the Italian Dystonia Registry [2] were analyzed.

Results: Our analysis identified significant differences in dystonia distribution between patients with combined parkinsonism-dystonia and those with isolated idiopathic dystonia. Limb and trunk dystonia were notably more prevalent in the combined dystonia group (p < 0.001). Additionally, this group had a higher average onset age of dystonia (65 ± 10.5 years) compared to the idiopathic group (56.9 ± 10.7 years, p < 0.001), and a higher proportion of males (51 out of 109 versus 290 out of 876, p = 0.006). Conversely, the isolated idiopathic dystonia group exhibited a higher frequency of head tremor and sensory tricks (p < 0.001). There were no significant differences in the frequency of eye symptoms, neck pain associated with cervical dystonia, or family history of dystonia or tremor between the groups.

Conclusion: The clinical phenomenology of dystonia may exhibit differences between combined and idiopathic dystonia, particularly regarding the body localization of dystonia. These disparities suggest the possibility of pathophysiological differences between etiological categories.

References: [1] Albanese A, Bhatia K, Bressman SB, Delong MR, Fahn S, Fung VS, Hallett M, Jankovic J, Jinnah HA, Klein C, Lang AE, Mink JW, Teller JK. Phenomenology and classification of dystonia: a consensus update. Mov Disord. 2013 Jun 15;28(7):863-73. doi: 10.1002/mds.25475. Epub 2013 May 6. PMID: 23649720; PMCID: PMC3729880.
[2] Defazio G, Esposito M, Abbruzzese G, Scaglione CL, Fabbrini G, Ferrazzano G, Peluso S, Pellicciari R, Gigante AF, Cossu G, Arca R, Avanzino L, Bono F, Mazza MR, Bertolasi L, Bacchin R, Eleopra R, Lettieri C, Morgante F, Altavista MC, Polidori L, Liguori R, Misceo S, Squintani G, Tinazzi M, Ceravolo R, Unti E, Magistrelli L, Coletti Moja M, Modugno N, Petracca M, Tambasco N, Cotelli MS, Aguggia M, Pisani A, Romano M, Zibetti M, Bentivoglio AR, Albanese A, Girlanda P, Berardelli A. The Italian Dystonia Registry: rationale, design and preliminary findings. Neurol Sci. 2017 May;38(5):819-825. doi: 10.1007/s10072-017-2839-3. Epub 2017 Feb 18. Erratum in: Neurol Sci. 2018 Apr 18;: PMID: 28215037.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/phenotypic-variability-in-combined-parkinsonism-dystonia-and-isolated-idiopathic-dystonia/