Clinical Caracterization of Dystonia in Patients with Huntigdon's Disease

Zande, N. van de (2016) Clinical Caracterization of Dystonia in Patients with Huntigdon's Disease. thesis, Medicine.

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Abstract

Introduction Huntington’s disease (HD) is an autosomal dominant, neurodegenerative movement disorder, typically characterized by chorea. Dystonia is another frequently recognised movement disorder in HD, although little work detailing its prevalence, distribution, severity, correlation with HD characteristics and impact on functional capacity has been published to date. Methods Patients (>18 yrs.) were consecutively recruited from the Cardiff (UK) HD-clinic, each undergoing a standardized videotaped clinical examination and three functionality questionnaires: functionality assessment and independence scale from the Unified Huntington’s Disease Rating Scale (UHDRS), functional capacity scale from the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) and modified version of the disability section from the Toronto Western Spasmodic Torticollis Rating Scale). Dystonia severity was determined by five independent neurologists, each scoring the videotaped examinations using the BFMDRS and dystonia-section of the UHDRS. Dystonia was deemed to be present in each body region (referring to the BFMDRS-regions) if this was observed by the majority of the raters. Statistical analysis included Pearson’s correlation coefficient, Fisher’s exact test, linear regression, Wilcoxon signed rank test and the intraclass correlation coefficient where appropriate. A p-value of <0.05 was considered as statistically significant. Results 53 patient have been included, of which 91% are identified with dystonia. The mean severity of dystonia ranged from 1 to 19.75 with the UHDRS (mean: 7.6) and from 2.4 to 106.4 with the BFMDRS (mean: 32.2). The severity per distribution ranged from 2.44 in the eyes (n=30, 9%) to 5.10 in the neck (n=37, 11%). The distribution of dystonia was significantly independent from the distribution of chorea in the mouth (p-value: 0.053), the neck (p-value: 0.00034) and the trunk (p-value: 0.033). The severity of dystonia was significantly different in the different stages of HD (p-value: <2e-16 with both scales), showing an increasing severity with an increasing stage. The Pearson’s correlation coefficient for the correlation between severity of dystonia and CAG-repeat was 0.14/0.097 (UHDRS/BFMDRS) with a p-value of >0.05. Regression analysis showed a non-significant regression with a multiple R2 of 0.0020/0.0093 (UHDRS/BFMDRS). The Pearson’s correlation coefficient for the correlation between severity of dystonia and motor disease duration was 0.82/0.84 (UHDRS/BFMDRS) with a p-value of <0.05. Regression analysis showed a significant regression with a multiple R2 of 0.67/0.70 (UHDRS/BFMDRS) and a slope of 0.62/3.59 (UHDRS/BFMDRS). The Pearson’s correlation coefficient for the correlation between severity of dystonia and age at motor onset was 0.096/0.12 (UHDRS/BFMDRS) with a p-value of >0.05. Regression analysis showed a non-significant regression with a multiple R2 of 0.0092/0.015 (UHDRS/BFMDRS). The Wilcoxon signed rank test showed p-values of 0.93 and 0.82 (UHDRS and BFMDRS), looking at the difference in severity of dystonia between the dominant side and the non-dominant side. The correlation between the severity of dystonia and functional capacity was significant with all scales, with Pearson’s correlation coefficient ranging from 0.86-0.92 and significant regressions with multiple R2 ranging from 0.73-0.85. 17 patients (33%) were aware of dystonic symptoms and there was no significant correlation between severity of dystonia and awareness and distress. The ICCs of the inter-rater reliability was 0.9 (UHDRS) and 0.93 (BFMDRS) and the ICCs of the intra-rater reliability were 0.81 and 0.96 (UHDRS) and 0.94 and 0.98 (BFMDRS). Conclusions 91% of the patients were identified having dystonia with a varied distribution and varied mean severity scores, that significantly increased with an increasing motor disease duration. Severity of dystonia was also significantly different in the different stages of HD, showing a more severe dystonia with an increasing stage of HD. There was no significant correlation with age at motor onset, with CAG-repeat and no significant difference between dominant and non-dominant side. Furthermore, there was a significant decreasing functional capacity with an increasing severity of dystonia. The awareness of dystonic movement was low in this cohort. The BFMDRS and the UHDRS were both reliable scales to use for dystonia in patients with HD, although the BFMDRS was slightly better. Since the BFMDRS was slightly more reliable and there was a presence of dystonia in the neck and face, it’s worth considering a modification of the UHDRS.

Item Type:	Thesis (Thesis)
Supervisor name:	Faculty supervisor: and Koning-Tijssen, dr. M. de
Supervisor name:	Local supervisor: and Peall, dr. K. and Location: Institute of Psychological Medicine and Clinical N
Faculty:	Medical Sciences
Date Deposited:	25 Jun 2020 10:54
Last Modified:	25 Jun 2020 10:54
URI:	https://umcg.studenttheses.ub.rug.nl/id/eprint/1532

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