BACKGROUND: Botulinum toxin (BoNT) is first-line treatment for cervical dystonia (CD). Treatment of CD with BoNT usually requires injections every 3-4 months for as long as symptoms persist, which can be for the lifetime of the individual. Duration of BoNT effect can impact quality of life since it is important that efficacy is maintained throughout an injection cycle to avoid fluctuations of effect after each injection. There is currently no consensus on how to assess duration of BoNT effect in patients with CD.
METHODS: A scoping review was conducted to summarize the available evidence from phase 3 clinical trials of BoNT in CD and on the interpretation of the reported duration of effect. The available evidence was analyzed in the context of clinical experience and real-world treatment practices of CD.
RESULTS: Methods for estimating duration of effect varied across publications; most were based on artificial constructs developed for clinical trials (time until a pre-specified efficacy endpoint was reached) and are not appropriate to apply in clinical practice. Clinical trial outcomes in CD were not objectively evaluated, and did not prioritize patients\' needs or focus on factors that impact patients\' daily living activities and quality of life.
CONCLUSIONS: Better evidence and consistency of reporting for duration of effect for BoNT in CD is needed to help guide clinicians on when reinjection is likely to be required. The goal should be to keep patients as symptom-free as possible with flexible reinjection intervals tailored to individual needs.

BACKGROUND: Cervical dystonia is a movement disorder typically characterized by a patterned and twisting movement of sustained or intermittent muscle contractions. Recently, new clinical trials are emerging, highlighting the potential benefit of physiotherapy (PT) on disease outcomes. Thus, the objective of this review is to update the effectiveness of PT on cervical dystonia disease outcomes and subsequently perform a meta-analysis.
METHODS: Interventional studies published in English with adult patients with isolated cervical dystonia following a physiotherapy program were included. Relevant articles were searched in PubMed (MEDLINE), Web of Science, and Scopus. Cochrane and Joanna Briggs Institute risk of bias checklists were used for quality reporting. Meta-analysis was done using Review Manager 5.3 statistical software and a pooled mean difference for pain was presented.
RESULTS: Fourteen articles were included in the review and two articles were included in the meta-analysis. The meta-analysis revealed that PT intervention had a significant effect on pain reduction scale (-5.00, 95% CI -6.26, -3.74) when used as an additional therapy with botulinum toxin (BoNT) injection. Additionally, findings indicate a possible positive effect of PT disease severity, disability, and quality of life.
CONCLUSIONS: Physiotherapy in addition to BoNT is recommended to decrease pain. The findings suggest a reduction of disease severity, disability, and improvement in quality of life. The variety in the type and duration of PT interventions did not allow a clear recommendation of a specific type of PT.

(1) Background: The first-line treatment for patients with focal or segmental dystonia with a craniocervical distribution is still the intramuscular injection of botulinum neurotoxin (BoNT). However, some patients experience primary or secondary treatment failure from this potential immunogenic therapy. Deep brain stimulation (DBS) may then be used as a backup strategy in this situation. (2) Methods: Here, we reviewed the current study literature to answer a specific question regarding the efficacy and safety of the use of DBS, particularly for cervical dystonia (CD) and Meige syndrome (MS) in patients with documented treatment failure under BoNT. (3) Results: There are only two studies with the highest level of evidence in this area. Despite this clear limitation, in the context of the narrowly defined research question of this paper, it is possible to report 161 patients with CD or MS who were included in studies that were able to show a statistically significant reduction in dystonic symptoms using DBS. Safety and tolerability data appeared adequate. However, much of the information is based on retrospective observations. (4) Conclusions: The evidence base in this area is in need of further scientific investigation. Most importantly, more randomized, controlled and double-blind trials are needed, possibly including a head-to-head comparison of DBS and BoNT.

Ataxia-telangiectasia-like disorder 1 (ATLD1) is a rare neurodegenerative disorder associated with early onset ataxia and oculomotor apraxia. The genetic determination of ATLD1 is a mutation in the MRE11 gene (meiotic recombination 11 gene), which causes DNA-double strand break repair deficits. Clinical features of patients with ATLD1 resemble those of ataxia telangiectasia (AT), with slower progression and milder presentation. Main symptoms include progressive cerebellar ataxia, oculomotor apraxia, cellular hypersensitivity to ionizing radiations. Facial dyskinesia, dystonia, dysarthria have also been reported. Here we present a 45-year old woman with cervical and facial dystonia, dysarthria and ataxia, who turned out to be the first case of ATLD without oculomotor apraxia, and with dystonia as a main manifestation of the disease. She had presented those non-specific symptoms for years, before whole exome sequencing confirmed the diagnosis.

Growing evidence points to a spectrum of non-motor symptoms, including cognitive difficulties that have a greater impact on functional outcomes and quality of life than motor symptoms in cervical dystonia (CD). Some cognitive impairments have been reported; however, findings are inconsistent, and described across mixed groups of dystonia. The current review aimed to examine the evidence for cognitive impairments in CD. MEDLINE, EMBASE, PsychINFO and Web of Science databases were searched. Studies were included if they met the following criteria (i) cross-sectional or longitudinal studies of adults with CD, (ii) where the results of standardised measures of cognitive or neuropsychological function in any form were assessed and reported, (iii) results compared to a control group or normative data, and (iv) were published in English. Results are presented in a narrative synthesis. Twenty studies were included. Subtle difficulties with general intellectual functioning, processing speed, verbal memory, visual memory, visuospatial function, executive function, and social cognition were identified while language, and attention and working memory appear to be relatively spared. Several methodological limitations were identified that should be considered when interpreting the evidence to describe a specific profile of cognitive impairment in CD. Clinical and research implications are discussed.

BACKGROUND: Cervical dystonia (CD) is an isolated, focal, idiopathic dystonia affecting the neck and upper back. CD is usually treated by botulinum neurotoxin (BoNT) injections into the dystonic muscles; however, about 20% of people will discontinue BoNT therapy. This systematic review aimed to determine the barriers to satisfaction and facilitators that could improve satisfaction with BoNT therapy for people with CD.
METHODS: A database search for journal articles investigating satisfaction with BoNT treatment in CD identified seven qualitative studies and one randomised controlled trial. Results were grouped into \"direct\" and \"indirect\" barriers and facilitators.
RESULTS: The most reported direct barrier to satisfaction with BoNT was treatment non-response, reported by up to 66% of participants. Other direct barriers included negative side effects, early wearing-off of treatment effect and inexperience of the treating physician. Indirect barriers included limited accessibility to treatment (including cost) and personal choice. Direct facilitators of satisfaction with BoNT included relief of symptoms and flexible re-treatment intervals. Indirect facilitators included easy accessibility to treatment.
CONCLUSIONS: Despite BoNT having a discontinuation rate of only 20%, it appears a much greater proportion of people with CD are dissatisfied with this treatment. As BoNT is currently the main treatment offered to people with CD, efforts to improve treatment response rates, reduce side effects and make treatment more flexible and readily available should be adopted to improve the quality of life for people with CD.

BACKGROUND: Cervical dystonia (CD) is a rare and difficult-to-treat disorder. Various neurosurgical options are available, each with its own set of advantages and disadvantages. We investigated using the modified McKenzie-Dandy operation for a patient with CD who failed selective peripheral denervation (SPD).
METHODS: A 42-year-old man presented left-sided rotational torticollis for 3 years. He was referred for surgery after treating with a variety of oral medications and repeated botulinum toxin injections that became ineffective. For the first operation, the patient underwent SPD (modified Bertrand\'s operation); unfortunately, the postoperative outcome was unsatisfactory, and the operation was considered a failure. After his symptoms did not improve after 6 months, the modified McKenzie-Dandy operation was performed. Immediately following surgery, he experienced satisfactory outcomes. He was able to resume his normal activities and employment after 1 month after recovering from his temporary swallowing difficulties. He only complained of minor neck pain and no recurrence was observed after 3 years follow-up.
CONCLUSIONS: For patients who have failed SPD, a modified McKenzie-Dandy procedure is a feasible and effective option. The procedure is relatively safe when performed properly, and the long-term effects can be maintained.

Dystonia is a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive movements, postures, or both. Dystonic movements are typically patterned, associated with twisting of body parts, and may have tremulousness. Dystonia is usually initiated or worsened by voluntary action and associated with overflow muscle activation. Cervical dystonia (CD) is the most prevalent form of dystonia. CD is a condition characterized by cranial muscle overactivity leading to abnormal intermittent or continuous posturing of the head. Non-motor symptoms are comorbidity of dystonia, which significantly hampers the quality of life among these patients. The symptoms can be as a result of the dystonia itself. However, studies have highlighted the involvement of cortical-striatal-thalamocortical circuits in primary dystonia that could be the pathophysiological basis for the non-motor symptoms. The non-motor symptoms that are commonly associated with dystonia are anxiety, depression, restless leg syndrome, excessive daytime sleepiness, cognitive disturbances, and poor sleep. This review attempts to summarize the literature on non-motor symptoms in patients with CD.

Cervical dystonia (CD) is a neurological movement disorder characterized by sustained involuntary muscle contractions. First-line therapy for CD is intramuscular injections of botulinum neurotoxin (e.g., abobotulinumtoxinA) into the affected muscles. The objective of this systematic literature review is to assess the clinical evidence regarding the effects of abobotulinumtoxinA for treatment of CD in studies of safety, efficacy, patient-reported outcomes, and economic outcomes. Using comprehensive electronic medical literature databases, a search strategy was developed using a combination of Medical Subject Heading terms and keywords. Results were reviewed by two independent reviewers who rated the level of evidence. The search yielded 263 publications, of which 232 were excluded for being duplicate publications, not meeting the selection criteria, or failing to meet predefined eligibility criteria, leaving a total of 31 articles. Clinical efficacy, patient-reported outcomes, and safety data were in 6 placebo-controlled trials (8 articles), 6 active-controlled trials, and 16 observational studies (17 articles). Data on health economic outcomes were provided in one of the clinical trials, in two of the observational studies, and in one specific cost-analysis publication. This review demonstrated that the routine use of abobotulinumtoxinA in CD is well-established, effective, and generally well-tolerated, with a relatively low cost of treatment.

Focal Dystonia (FD) is a chronic neurological disorder, which causes twisting and repetitive movements and abnormal postures induced by involuntary sustained contractions of agonist and antagonist muscles. Based on the hypothesis that several dystonia-related brain regions, including cerebellum, are implicated in oculomotor disturbances (OCD), a number of studies investigated oculomotor function in patients with dystonia. However, conceptual clarity with respect to the used assessment tools and interpretation of the findings is lacking in the literature. This is the first article to systematically review studies that assessed oculomotor function in patients with FD. In total, 329 publications, published until September 1, 2019, were identified through MEDLINE search. Twenty out of 329 studies, involving 232 subjects in total, met the inclusion criteria. Most of the studies reported oculomotor disturbances in patients with FD. Abnormalities included asymmetry in vestibulo-ocular reflex (VOR), disturbances in saccadic functions, and prolonged latencies of eye motion. Discrepancies in the results could be explained, at least partially, by the long period of time over which the reviewed studies were published, the different methods used for testing the eye movements, and the limited number of patients assessed since the majority of data derived from case reports or small-scale studies. Further prospective studies with larger subject numbers are needed, using advanced tools for the assessment of oculomotor function in focal dystonia.