Background Huntington’s disease (HD) is an autosomal dominant, neurodegenerative movement disorder, typically characterised by chorea. Dystonia is another frequently recognised movement disorder in HD, although little work detailing its prevalence, distribution, severity and correlation with HD characteristics has been published to date.
Aims To determine the frequency and distribution of dystonia in a cohort of patients with HD. – To evaluate the severity of dystonia and its influence on the functional capacity of patients by use of standardised dystonia rating scales.
Methods Patients (>18 yrs.) were consecutively recruited from the Cardiff (UK) HD-clinic, each undergoing a standardised videotaped clinical examination and functionality questionnaires (UHDRS functionality assessment and independence scale, Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) disability section and modified Toronto Western Spasmodic Torticollis Rating Scale). Dystonia severity was determined by four independent neurologists, each scoring the videotaped examinations using the BFMDRS and dystonia-section of the UHDRS. Statistical analysis included paired t-test, correlation coefficients, logistic regression analyses where appropriate.
Results Eight patients have been recruited to date (5M:3F) and data collection is ongoing. We anticipate recruiting 50–60 further participants. Dystonia was deemed to be present in each body region if this was observed by the majority of the raters.
Conclusions All patients recruited to date were observed to have dystonia with a varying distribution and mean severity scores. With a larger cohort we would anticipate performing further analysis to determine which, if any, clinical characteristics might be correlated with the presence and severity of dystonia. However, it is already apparent that cranio-cervical musculature is frequently involved and modification of the dystonia portion of the UHDRS might be helpful to allow for this distinction.
- rating scales
- functional capacity
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