Cervical Dystonia Research Articles

Essential and dystonic head tremor: More similarities than differences

IntroductionHead tremor is a common symptom of essential tremor (ET) and cervical dystonia (CD). In clinical practice, it is often difficult to distinguish between these two conditions, especially in cases where head tremor predominates. ObjectivesTo investigate which clinical and instrumental methods best differentiate ET and CD in patients with head tremor. Methods65 patients were included, of which 23 were diagnosed with ET and head tremor (HT+), 21 with ET without head tremor (HT-) and 21 with CD and dystonic head tremor. 22 healthy volunteers served as controls. All patients were examined using the rating scales for ET (TETRAS), cervical dystonia (TWSTRS), and ataxia (SARA). The Somatosensory Temporal Discrimination Threshold (STDT) was defined as the shortest interval in which an individual recognizes two tactile stimuli as temporally separated. ResultsTETRAS and SARA scores were higher in the HT+ group compared with HT- and CD, with no significant difference between mild head tremor subscores in HT+ and CD. In most HT+ and CD patients, head tremor disappeared supine. The STDT values were significantly higher in the HT+ group compared with controls. ConclusionWhile TWSTRS contributed to assess dystonia severity, the scales of tremor and ataxia were not helpful in differentiating head tremor syndromes. The cessation of head tremor in the supine position could be related to the overall mild head tremor scores in both groups. Increased SARA scores and STDT values in HT+ patients suggest a possible role of cerebellar involvement and altered somatosensory timing that merit further verification.

Experimental inoculation of the Botox perineurally of facial nerve and followed by histological assessment for its effect on the zygomatic bone of rabbits

Background: Botox, derived from the toxin produced by Clostridium botulinum, is an attenuated toxin employed as a treatment for cervical dystonia, overactive bladder, strabismus, cerebral palsy, and non-surgical cosmetic procedures. This study aimed to explore the impact of injecting Botox around the facial nerve on the left side of rabbits, specifically focusing on the histological changes in the zygomatic bone. Methods: Twenty-five adult rabbits of a local breed, weighing 1500-1800 gm and of both sexes, underwent a 15-day acclimation period prior to the experiment. The rabbits were randomly assigned to four groups (1st, 2nd, 3rd, and 4th). A singular intramuscular injection of Botox at a dose of 3.5 U/kg was administered to the left facial muscles. The rabbits in each group were then sacrificed at distinct time points after injection: day 10, day 15, day 30, and day 45. All rabbits survived until the end of the experiment, at which point they were euthanized with chloroform. Post-euthanasia, the rabbits' facial zygomatic bones were dissected and subjected to histological assessment. Results: The results indicated notable changes in the zygomatic bone, including prominent vacuoles within the bony matrix, cracks with cellular debris, limited osteocytes, and collagen bundles resembling woven bone. Additionally, in the day 30 group (T3), irregular bone borders and atrophied osteogenic cells were observed, while the day 45 group (T4) exhibited necrotic areas and bone fragments within the bone matrix. Conclusion: In conclusion, Botox, derived from Clostridium botulinum, serves various medical purposes. The study focused on injecting Botox around rabbits' facial nerves to assess its impact on zygomatic bones histologically. Following a controlled injection and specific time intervals, the examined bone samples exhibited distinct changes, providing insights into Botox's effects on bone morphology.

Efficacy and safety of abobotulinum injection in patients with focal dystonia

Objectives: To investigate the clinical features of focal dystonia and evaluate the efficacy and safety of Abobotulinum injection on these patients. Subjects and methods: A prospective cross-sectional descriptive study on 59 patients and 114 injection sessions of focal dystonia at the Functional Exploration Unit, Hue University of Medicine and Pharmacy Hospital from July 2020 to June 2023. We recorded the dystonia severity by corresponding scale and followed up every one month after the injection to document the maximal subjective improvement and side effects of the injection. Results: The number of patients with hemifacial spasm: blepharospasm: cervical dystonia: limb dystonia: oromandibular dystonia are 17: 12: 20: 8: 2, respectively. Regarding to hemifacial spasm, the primary cause accounted for 82.4%, the average grading scale was 6.1 ± 0.5; the average dose was 80.9 ± 29.9 U Abobotulinum; the proportion of complete and > 50% improvement was 83.9% of injections; the most common adverse effect was facial weakness in 47.0% of patients and 41.9% of injections. In terms of blepharospasm, the mean severity was 5.5 ± 0.9 on the Jankovic’s scale; the average therapeutic dose of 68.1 ± 27.6 helped 90.5% improve > 50% and completely; 1/3 of patients had lagophthalmos, only 2 patient had bruising but no one had ptosis. Cervical dystonia patients had mean Toronto Western Spasmodic Torticollis Rating Scale of 26.3 ± 9.6; using an average dose of 406.1 ± 225.2, which improved 97.8% of injections. The most notable adverse events reported were 1 patient with vasovagal syncope and 1 patient with flu-like symptoms after injection. Limb dystonia data recorded subjective improvement in all patients, and only 1 patient had focal weakness. In 2 cases of closed jaw LTLC, both improved and had no side effects. All of the above side effects were transient and mild. Conclusion: Dystonia involves predominantly the facial and neck muscles, mainly of idiopathic origin. Research has demonstrated its effectiveness in improving symptoms of muscle dystonia, similar to studies conducted worldwide in hemifacial spasm, blepharospasm, and cervical dystonia, with less effectiveness in arm dystonia. Local side effects are quite common in hemifacial spasm and blepharospasm, while they are rare in other forms. Key words: focal dystonia, Abobotulinum, Botulinum toxin injection, cervical dystonia, blepharospasm, hemifacial spasm, oromandibular dystonia, limb dystonia.

Idiopathic cervical dystonia and non-motor symptoms: a pilot case-control study on autonomic nervous system

PurposeNon-motor symptoms, such as sleep disturbances, fatigue, neuropsychiatric manifestations, cognitive impairment, and sensory abnormalities, have been widely reported in patients with idiopathic cervical dystonia (ICD). This study aimed to clarify the autonomic nervous system (ANS) involvement in ICD patients, which is still unclear in the literature.MethodsWe conducted a pilot case-control study to investigate ANS in twenty ICD patients and twenty age-sex-matched controls. The Composite Autonomic System Scale 31 was used for ANS clinical assessment. The laser Doppler flowmetry quantitative spectral analysis, applied to the skin and recorded from indices, was used to measure at rest, after a parasympathetic activation (six deep breathing) and two sympathetic stimuli (isometric handgrip and mental calculation), the power of high-frequency and low-frequency oscillations, and the low-frequency/high-frequency ratio.ResultsICD patients manifested higher clinical dysautonomic symptoms than controls (p < 0.05). At rest, a lower high-frequency power band was detected among ICD patients than controls, reaching a statistically significant difference in the age group of ≥ 57-year-olds (p < 0.05). In the latter age group, ICD patients showed a lower low-frequency/high-frequency ratio than controls at rest (p < 0.05) and after mental calculation (p < 0.05). Regardless of age, during handgrip, ICD patients showed (i) lower low-frequency/high-frequency ratio (p < 0.05), (ii) similar increase of the low-frequency oscillatory component compared to controls, and (iii) stable high-frequency oscillatory component, which conversely decreased in controls. No differences between the two groups were detected during deep breathing.ConclusionICD patients showed ANS dysfunction at clinical and neurophysiological levels, reflecting an abnormal parasympathetic-sympathetic interaction likely related to abnormal neck posture and neurotransmitter alterations.

Dystonic head tremor in paroxysmal dyskinesia in 17 dogs (2021-2023).

Dystonia is a common component of the movement disorder paroxysmal dyskinesia (PD) in dogs. However, the incidence of dystonic head tremor (DHT) in these dogs has not previously been evaluated. The medical records of dogs presenting with PD between 2021 and 2023 were retrospectively reviewed, and those with available video footage and the presence of a head tremor were selected for further analysis. Seventeen of the 39 (43.6%) dogs diagnosed with PD that had video footage available manifested DHT. Poodle or Poodle-cross was the most commonly affected breed (7/17). DHTs were described as fine irregular head tremors accompanied by cervical dystonia (17/17), truncal (11/17) or head (10/17) sway, shifting limb (10/17) or single limb (6/17) dystonia, freezing (8/17), ataxia (6/17), ptyalism (5/17), falling (5/17), kyphosis (4/17) and prayer posture (4/17). Neurological examination and advanced imaging, when available, were within normal limits. The limitations of the study include its retrospective nature, the lack of video recordings for all PD patients and the lack of electrophysiological evaluation of tremors and electroencephalography. DHT exists in dogs with PD; it has characteristic features, and it should be considered in differential diagnoses for dogs with head tremors.

A Bespoke Electronic Health Journal for Monitoring Response to Botulinum Toxin in Treatment of Cervical Dystonia: Open-Label Observational Study of User Experience.

The mainstay of treatment for cervical dystonia (CD) is regular botulinum toxin injections every 3-4 months. Clinical evaluation of response is dependent on the patient's recall of how well symptoms responded to the previous injection. A mobile health app could assist both patients and health care professionals to monitor treatment benefits and side effects to assist with the selection of muscle and toxin dose to be injected at the next visit. The DystoniaDiary is a bespoke electronic health journal for monitoring symptoms of CD and response to treatment. The objective of this study was to assess the acceptability and utility of the DystoniaDiary in patients with CD treated with botulinum toxins as part of their usual care. In this open-label, single-center, single-arm observational study, patients attending a botulinum toxin injection clinic were invited to download the DystoniaDiary app. Patients selected up to 3 of their most troublesome CD symptoms (from a predefined list) and were prompted every 3 days to rate the control of these symptoms on a scale from 0 (very badly) to 100 (very well). Dates of onset and wearing off of response to injected botulinum toxin and responses to the Cervical Dystonia Impact Profile (CDIP-58) questionnaire at baseline and week 6 were also recorded in the app. A total of 34 patients installed DystoniaDiary. Twenty-five patients (25/34, 74%) recorded data for ≥12 weeks and 21 patients (21/34, 62%) for ≥16 weeks. Median time between the first and last data input was 140 days with a median of 13 recordings per patient. User experience questionnaires at weeks 4 and 12 (20 respondents) indicated that the majority of respondents found the DystoniaDiary app easy to install and use, liked using it, would recommend it to others (19/20), and wished to continue using it (16/20). A smaller proportion indicated that the DystoniaDiary gave a greater sense of control in managing their CD (13/20). There was interindividual variation in patients' perceptions of control of their symptoms after botulinum toxin injection. Response to treatment was apparent in the symptom control scores for some patients, whereas the severity of other patients' symptoms did not appear to change after treatment. This observational study demonstrated that the DystoniaDiary app was perceived as useful and acceptable for a large proportion of this sample of patients with CD attending a botulinum toxin clinic. Patients with CD appear to be willing to regularly record symptom severity for at least the duration of a botulinum injection treatment cycle (12-16 weeks). This app may be useful in monitoring and optimizing individual patient responses to botulinum toxin injection.

The Challenge of Choosing the Right Stimulation Target for Dystonic Tremor-A Series of Instructive Cases.

Thalamic deep brain stimulation (DBS) is established for medically refractory tremor syndromes and globus pallidus stimulation (GPi-DBS) for medically refractory dystonia syndromes. For combined tremor and dystonia syndromes, the best target is unclear. We present four patients with two different profiles whose clinical course demonstrates that our current analysis of clinical symptomatology is not a sufficient predictor of surgical success. Outcome parameters were assessed with observer-blinded video ratings and included the Fahn-Tolosa-Marin-Tremor Rating Scale (FTM-TRS) and the Unified Dystonia Rating Scale (UDRS). Two patients with "predominant lateralized action tremor" of the hands and mild cervical dystonia showed no relevant tremor improvement after GPi-DBS, but UDRS improved (mean, 45%). Rescue ventral intermediate nucleus of the thalamus (Vim)-DBS electrodes were implanted and both patients benefited significantly with a mean tremor reduction of 51%.Two other patients with "axial-predominant action tremor of the trunk and head" associated with cervical dystonia underwent bilateral Vim-DBS implantation with little effect on tremor (24% reduction in mean FTM-TRS total score) and no effect on dystonic symptoms. GPi rescue DBS was implanted and showed a significant effect on tremor (63% reduction in mean FTM-TRS) and dystonia (49% reduction in UDRS). The diagnosis of dystonic tremor alone is not a sufficient predictor to establish the differential indication of GPi- or Vim-DBS. Further criteria (eg, proximal-distal distribution of tremor/dystonia) are needed to avoid rescue surgery in the future. On the other hand, the course of our patients encourages rescue surgery in such severely disabled patients if the first target fails.

Cervical dystonia with cerebellar ataxia in KCNA1 mutation: a phenotypic expansion

Cervical dystonia with cerebellar ataxia in KCNA1 mutation: a phenotypic expansion

Non-motor symptoms in cervical dystonia

Non-motor symptoms in cervical dystonia

Depression impact on subjective and objective severity of cervical and segmental dystonia

Depression impact on subjective and objective severity of cervical and segmental dystonia

Comparing the features of cervical dystonia subtypes: a retrospective study in Pakistan

Comparing the features of cervical dystonia subtypes: a retrospective study in Pakistan

IncobotulinumtoxinA injections at intervals

IncobotulinumtoxinA injections at intervals <10 weeks are effective and safe for cervical dystonia patients with inadequate benefit from standard intervals

Structural and functional brain abnormalities in idiopathic cervical dystonia: a multimodal meta-analysis

Structural and functional brain abnormalities in idiopathic cervical dystonia: a multimodal meta-analysis

Structural Cerebellar Lobules Correlates of Dystonic Head Rotation in Idiopathic Cervical Dystonia

Structural Cerebellar Lobules Correlates of Dystonic Head Rotation in Idiopathic Cervical Dystonia

Cervical dystonia in a patient with cervical hydromyelic cavity

Cervical dystonia in a patient with cervical hydromyelic cavity

The Use of Botulinum Toxin in Medicine: Safety and Efficacy Based on the Latest Research

Introduction and aim of the study: Botulinum toxin, produced by anaerobic bacteria of the Clostridium botulinum family, is one of the most potent organic compounds known to man. Despite its toxicity, it has found widespread use in medicine. From applications in aesthetic medicine, through the treatment of various disease entities, botulinum toxin has become an extremely valuable tool in the hands of doctors. The aim of this study is to review the latest research on the use of botulinum in medicine, with an emphasis on its safety and effectiveness. Methodology: The review work is mainly based on articles searched in the Pubmed and Google Scholar databases in the years 2016-2023. The study was conducted by reviewing keywords such as "botulin", "botulin toxin", "botulin treatment", "botulin aesthetic". Current state of knowledge: Botulinum is used in the treatment of such disease entities as hyperhidrosis, cervical dystonia, migraines, neurogenic bladder, as well as in the treatment of scars and wrinkles. The use of botulinum in medicine is safe, provided that it is used by qualified specialists and in appropriate doses. An area that requires further research is the impact of long-term botulinum therapy on the antibodies produced against the toxin. Additionally, an important area for further research is patient monitoring, appropriate dose adjustment and frequency of administration, which in turn can increase the effectiveness of treatment. Summary: Botulinum toxin is an effective tool in medicine, which has many applications. However, as with any drug, it requires appropriate use and understanding of potential side effects. Further research and education are key to fully exploiting its potential and assessing the risk associated with long-term use.

Gait and balance in cervical dystonia and dystonic head tremor

Background: Previous studies have found gait and balance abnormalities in patients with cervical dystonia. However, the characteristics of gait and balance in cervical dystonia with head tremors have not been ascertained. A midline constant head tremor when walking would likely render gait and balance more difficult. The pathophysiology of dystonia has also been increasingly linked with cerebellar function abnormality, commonly implicated in gait and balance disorders.Methods: We examined the gait and balance characteristics of cervical dystonia presenting with head tremors. We used the timed up-and-go (TUG) walk test, 10 m walk test, Berg Balance Scale (BBS), and Gait and Freezing questionnaire. We then assessed the gait on an instrumented walkway system to capture spatiotemporal measures such as speed, cadence, step time, step length, stride width, swing%, stance%, single support%, double support%, and gait variability index (GVI). We also assessed whether the gait in dystonic tremor (DT) differed from essential tremor (ET) and orthostatic tremor (OT), as these tremor disorders share the cerebello-thalamo-cortical pathway as the common pathological pathway.Results: 50 participants comprising DT (20 patients), ET (15 patients), and OT (15 patients) were enrolled. While the gait abnormalities were subclinical, 11/20 DT patients (55%) walked at a slower speed on the TUG, 11/20 (55%) had reduced scores on the BBS, 9/20 (45%) had increased step time, 4/20 (20%) had reduced step length, 4/20 (20%) had wider stride width, 9/20 (45%) spent greater time during double support and 8/20 (40%) patients had an abnormal GVI. Comparisons of DT with healthy control data revealed a slower gait velocity (p = 0.001) and a reduced step length (p = 0.001). Compared to DT, the ET group revealed a reduced cadence (p = 0.04) and the OT group revealed an increased TUG time (p = 0.03), reduced BBS scores (p = 0.02), reduced step length (p = 0.02), reduced cadence (p = 0.03), reduced GVI (p = 0.01), and increased double support phase (p = 0.045).Conclusion: DT is accompanied by multiple abnormalities affecting gait and balance, albeit subclinical and less pronounced than ET and OT, possibly related to more effective compensatory mechanisms. Nevertheless, these abnormalities indicate that rehabilitative measures warrant consideration when managing in clinical settings.

9-year-old girl with TUBB4A dystonia

Whispering dystonia, also known as DYT-TUBB4A, is characterized by laryngeal dystonia and is linked to upper limb dystonia, cervical dystonia, and frequent generalization.

Pain control due to botulinum toxin therapy in cervical dystonia relates to the sensorimotor integration process

Background: Botulinum toxin (BoNT) injections have been found to improve pain symptoms of isolated cervical dystonia (CD). In addition to muscle relaxation at the peripheral level, few studies suggest that BoNT has effects on the central brain circuitries. The effects of BoNT on central circuitries that may be pain-related have not been examined. We probed these central effects with transcranial magnetic stimulation (TMS) techniques in a CD cohort presenting with significant pain.Methods: TMS-based measures of sensorimotor integration that are mediated through central processes, such as the short and long latency afferent inhibition (SAI and LAI) and measures for motor cortical excitability including short-interval intracortical inhibition (SICI) and intracortical facilitation (ICF) were recorded. These measures were recorded at specific interstimulus intervals (ISI) using paired-pulse paradigms before and after the peak effects of BoNT injections. Normative TMS data from age-matched healthy controls were collected for comparisons. Clinical pain symptoms were recorded with Toronto Western spasmodic rating scale (TWSTRS)-pain and a visual analog scale (VAS).Results: Eleven CD subjects (mean age ±SD, 53.1 ± 6.3 years) and 10 age-matched healthy controls were enrolled. SAI was found to be increased in CD patients at baseline, however at the time of peak BoNT effects, it revealed a significant change with normalization to healthy control data (SAI ISI 20 ms, p = 0.001; SAI ISI 30 ms, p = 0.03). The change in SAI correlated with improvements in pain levels assessed with TWSTRS-pain and VAS and the total dose of BoNT injected (corrected for multiple correlations). LAI, SICI, and ICF measures were similar to the healthy controls and remained unchanged with BoNT therapy.Conclusion: Pain control in CD from BoNT therapy relates to modulation of sensorimotor integration at the cortical level.

Examining Dopamine D5 Receptor Gene Polymorphism among Indian Population with Cervical Dystonia

Examining Dopamine D5 Receptor Gene Polymorphism among Indian Population with Cervical Dystonia