Objective: This study evaluated the hypothesis that autoimmune disorders may be more common in cervical dystonia (CD) than neurological controls.

Background: Although there are many possible etiologies for CD, most cases are idiopathic and a cause cannot be identified. The known causative genes identified for CD account for no more than 4% of cases, and many have only partial penetrance suggesting additional factors are involved. Several prior studies have highlighted the relevance of autoimmune mechanisms for some CD cases. Because disorders of immunity often coexist due to shared pathogenic mechanisms, this study sought to evaluate the frequency of autoimmune disorders in CD.

Method: The frequency of 32 autoimmune disorders in cases of idiopathic CD was evaluated using a systematic survey comparing subjects with idiopathic CD (n=271) with neurological controls (n=254).

Results: The average ages of CD subjects and controls were similar (61±11 for CD, 64±13 for controls).  Among CD subjects 76% were female, as compared to 46% female in the control group.  Among the 32 autoimmune diseases considered (table 1), thyroid disease was reported for 23% of subjects with CD and 9% of controls, a difference that was statistically significant (p=0.0001).  Even after controlling for differences in age or sex via multiple regression analyses, this difference remained significant with CD subjects twice as likely as controls to report thyroid disease (OR 2.08, 95% CI 1.1-3.9, p=0.02).  Subjects with CD also reported high frequencies of thyroid disease in their first-degree family members, but the numbers were too small for statistical comparisons.  Other autoimmune diseases were reported with similar frequencies in CD and controls.

Conclusion: The current study establishes that autoimmune thyroid disease is significantly more frequent in CD compared with neurological controls, a finding that confirms several prior anecdotal observations.  These findings do not establish an autoimmune basis for CD, but call attention to a potential CD subgroup where these mechanisms may need to be further examined.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/increased-prevalence-of-thyroid-disease-in-cervical-dystonia/