The Latest Articles on Dystonia

Our staff editors continue to share exciting, interesting, and thought-provoking reading material in the recommended articles series.

This week, we would like to share several latest articles on Dystonia.

Title: A comprehensive cognitive analysis of cervical dystonia: a single centre study
Authors: Shameer Rafee, Madeleine Diepman, Derval McCormack, Ruth Monaghan, Conor Fearon, Michael Hutchinson, Fiadhnait O'Keeffe
Type: Research Article
Abstract:

Introduction
Cervical dystonia (CD) presents as a motor disorder but has a number of non-motor features. Studies have demonstrated diverse changes in cognition in patients with CD. The rarity of this disorder, phenotypic heterogeneity, and, in particular, a lack of consistency in cognitive testing measures limits clear definition of cognitive changes in this disorder. The relationship between cognition, motor symptoms and quality of life has not been well defined. We undertook a comprehensive analysis of cognition in CD.

Methods
Patients with adult onset idiopathic isolated CD (AOICD) who had completed a battery of cognitive assessments- general intellectual functioning, verbal and visual memory, executive functions and social cognition measures, were included. Participants were assessed for mood symptoms, motor severity and quality of life.

Results
13 patients (8 women) with AOICD were included covering 40 cognitive subtests. Mean age was 59.9 years and mean TWSTRS-2 severity was 11. Mean estimated premorbid function was in the normal range. Overall performance on most measures were within normal limits. The lowest mean z-score was observed in Florida Affect Battery (social cognition) subtests, z= -1.75 and -0.81. and in verbal recall, z= -0.82. The majority of patients (75%) scored below population mean on spatial working memory and (62%) performed below population mean on word retrieval and working memory.

Conclusion
We provide detailed cognitive results across a wide range of measures. Although patients tended towards average outcomes on the majority of tests, poorer performance than expected averages were noted in measures of social cognition, word retrieval, spatial working memory and, processing speed.
Access this article: https://doi.org/10.1016/j.prdoa.2023.100226

Title: Incidence and risk factors for secondary extralaryngeal dystonia in patients with laryngeal dystonia
Authors: Dupuch Guillaume, Mailly Marie, Guillaume Jessica, Daval Mary, Ayache Denis, Brasnu Daniel
Type: Research Article
Abstract:

Background and objectives
Laryngeal dystonia (LD) is a focal dystonia affecting adductor and/or abductor muscles of the larynx. It can be isolated or may spread to extra laryngeal muscles. The aim of this study was to report the characteristics of LD over time in a large single-center study with a long follow-up.

Methods
Retrospective review of patients with LD referred to our institution between 1991 and 2021. Demographic data, time to diagnosis, type of LD, follow-up and spread of dystonia [SD] were recorded. Risk factors for spread of dystonia during follow-up were analyzed.

Results
Over the 30-year period, 516 patients (77.3 % female, median age 50 years, range 5–87 years) were analyzed. Three hundred and fifteen patients (61 %) had adduction laryngeal dystonia, 136 patients (26.4 %) had abduction laryngeal dystonia, 46 patients (8.9 %) had adductor respiratory laryngeal dystonia, 12 patients (2.3 %) had mixed laryngeal dystonia, and seven patients (1.4 %) had singer's laryngeal dystonia. A previous history of dystonia was found in 47 patients (9.1 %). A laryngeal tremor was found in 68 patients (13.2 %). Since the onset of symptoms, LD was diagnosed after a median of 3 years (IQR: 1.0, 7.0). SD occurred in 55 patients (10.7 %) after a median time of 4 year (IQR: 1.5, 13.0). Patients with mixed laryngeal dystonia had higher probability of SD (p = 0.018).

Discussion
This study reports a large European study of LD, with a long follow-up. SD occurred in 10.5 % of patients. Patients with mixed laryngeal dystonia had a higher probability of SD. A close follow-up may be recommended for patients with mixed laryngeal dystonia.
Access this article: https://doi.org/10.1016/j.amjoto.2023.104090

Title: ATP1A3 related disease manifesting as rapid onset dystonia-parkinsonism with prominent myoclonus and exaggerated startle
Authors: L. Williams, S.E. Waller, M. Bradley, A. Lockhart, R.K. Narayanan, K.R. Kumar, H. Morales Briceno, M. Tchan, D.G. Healy, V.S.C. Fung
Type: Research Article
Abstract:

We report ATP1A3-associated rapid-onset dystonia-parkinsonism with an atypical presentation including myoclonus and exaggerated startle in four patients. Their prominence over parkinsonism prompted consideration of a syndromic diagnosis of myoclonus dystonia. ATP1α3 dysfunction in GABAergic neurons could explain these examination findings. The spectrum of ATP1A3-associated movement disorders includes myoclonus-dystonia.
Access this article: https://doi.org/10.1016/j.parkreldis.2023.105864

Title: Persistent hemichoreoathetosis-hemidystonia after nonketotic hyperosmolar hyperglycemia
Authors: Mark S. LeDoux
Type: Case Report
Abstract:

Most commonly, hemichorea associated with nonketotic and ketotic hyperglycemia resolves with normalization of blood glucose. Herein, we present a case of hyperosmolar hyperglycemic left hemichoreoathetosis-hemidystonia that has persisted for over 1 year. The subject presented to the emergency room with dysarthria and manifested left hemichoreoathetosis-hemidystonia within 36 hours of admission. Initial computed tomography (CT) showed hyperdensity in the right putamen and left caudate. Magnetic resonance imaging (MRI) showed T1 hyperintensity within the right putamen. Failure to detect these classic imaging abnormalities during hospitalization resulted in a delayed etiologic diagnosis. Modest symptomatic improvement in the severity of hemichoreoathetosis-hemidystonia has been noted with low dose tetrabenazine.
Access this article: https://doi.org/10.1016/j.prdoa.2023.100221

Title: Botulinum toxin and conservative treatment strategies in people with cervical dystonia: an online survey
Authors: Melani J. Boyce, A. B. McCambridge, L. V. Bradnam, C. G. Canning, C. Quel De Oliveira & A. P. Verhagen
Type: Original Article

Abstract:

Isolated cervical dystonia is a focal, idiopathic dystonia affecting the neck muscles. Treatment usually consists of botulinum neurotoxin (BoNT) injections into the dystonic muscles. Our aim is to investigate the use of BoNT treatment and conservative treatments by people living with cervical dystonia. An online survey in English was conducted between June and August 2022. Participants were eligible to participate if they were living with cervical dystonia, were over 18 years old and could read and understand English. The survey consisted of demographic questions, characteristics of dystonia, questions relating to BoNT use and the perceived utility of conservative treatments. The data were analysed descriptively, and open-ended questions were grouped into similar topics represented by direct quotes. We received 128 responses from people with cervical dystonia, with an average age of 59 years and 77% women. Most participants (52%) described their cervical dystonia as mild to moderate with an average pain score of 5/10. Eighty-two (64%) participants were having regular BoNT injections, with overall positive perceived effects. Common activities reported to improve the symptoms were the use of heat packs, massage, relaxation, physiotherapy and participation in general exercise. Common coping strategies reported were getting sufficient rest, having the support of friends and family, and remaining engaged in enjoyable hobbies. We found that most participants received regular BoNT injections and that heat packs, exercise, massage, physiotherapy and relaxation were mostly perceived as effective in reducing the symptoms of cervical dystonia.

Access this article: https://doi.org/10.1007/s00702-023-02707-5