Treatment Of Dystonia Research Articles

Levodopa for Dystonia in Children: A Case Series and Review of the Literature

BackgroundLevodopa is used to treat hyperkinetic movements in children with dopa-responsive dystonia. However, levodopa may also be helpful in treating other forms of dystonia when used beyond a brief trial period. MethodsWe performed a retrospective review of all children referred to our institution for evaluation of generalized dystonia and subsequently treated with carbidopa-levodopa. Motor function was assessed using video recordings and examination notes, quantified with the Burke-Fahn-Marsden Dystonia Rating Scale. ResultsLong-term treatment with carbidopa-levodopa moderately improved motor function, whereas short-term use did not. Carbidopa-levodopa was well tolerated without untoward effects. ConclusionsDystonia is a significant cause of disability with limited effective treatment options. Published work is restricted but generally supports the findings of this review. A well-controlled study to examine the utility of carbidopa-levodopa treatment for dystonia is needed.

Outcomes of Unilateral Pallidotomy in Focal and Hemidystonia Cases: A Single-Blind Cohort Study.

The role of deep brain stimulation in the treatment of dystonia has been widely documented. However, there is limited literature on the outcome of lesioning surgery in unilateral dystonia. We restrospectively reviewed our cases of focal and hemidystonia undergoing unilateral Pallidotomy at our institute to evaluate the short-term and long-term outcome. Patients who underwent radiofrequency lesioning of GPi for unilateral dystonia between 1999 and 2019 were retrospectively reviewed. All patients were evaluated using the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) and Dystonia Disability Scale (DDS) preoperatively at the short term follow-up (<1 year) and at long-term follow-up (2-7.5 years). Video recordings performed at these time points were independently reviewed by a blinded movement disorders specialist. Eleven patients were included for analysis. The preoperative, short-term, and long-term follow-up motor BFMDRS and DDS scores were 15.5 (IQR [interquartile range]: 10.5, 23.75) and 10.5 (IQR: 6.0, 14.5); 3.0 (IQR: 1.0, 6.0, P = 0.02) and 3.0 (IQR: 3.0, 8.0, P = 0.016); and 14.25 (IQR: 4.0, 20.0, P = 0.20) and 10.5 (IQR: 2.0, 15.0, P = 0.71) respectively. For observers B, the BFMDRS scores at the same time points were 19 (IQR: 12.5, 27.0), 7.5 (IQR: 6.0, 15.0, P = 0.002), and 21 (IQR: 7.0, 22.0, P = 0.65) respectively. The improvement was statistically significant for all observations at short-term follow-up but not at long-term follow-up. Pallidotomy is effective for hemidystonia or focal dystonia in the short term. Continued benefit was seen in the longer term in some patients, whereas others worsened. Larger studies may be able to explain this in future.

Treatment of cervical dystonia using shorter incobotulinumtoxina injection intervals improves patient-reported outcomes in those with inadequate benefits from standard intervals

Treatment of cervical dystonia using shorter incobotulinumtoxina injection intervals improves patient-reported outcomes in those with inadequate benefits from standard intervals

An analysis of the efficacy of botulinum neurotoxin type a in treating cervical dystonia.

The first-line treatment for cervical dystonia (CD) consists of repeated intramuscular injections of botulinum toxin (BoNT). However, the efficacy in some patients may be unsatisfactory and they may discontinue treatment. To examine the factors associated with the maximum rate of remission in patients with CD after initial botulinum neurotoxin type A (or botulinum toxin type A abbreviated as BTX-A or BoNT-A) treatment. Patients with CD who received BoNT-A injections were evaluated using the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS) and the Tsui scale, with follow-up endpoints lasting until the start of the second injection. Patients who did not receive a second injection of BoNT-A were followed up for at least 5 months. The maximum remission rates were determined using the lowest Tsui and TWSTRS total scores during the follow-up period. We obtained basic information about these patients such as age, gender, duration of disease, presence of additional disease, types of torticollis, presence of anxiety, depression, tremors, single-photon emission computed tomography (SPECT) findings, injected dose, and so on from their medical records. A total of 70 patients with CD participated in this study, with males comprising 35.7% (25 individuals) with an average age of 45 ± 14 years old. The duration of disease was an independent risk factor for determining whether a complete remission has been attained using the Tsui scale (odds ratio [OR] = 0.978, 95% confidence interval [CI]: 0.959-0.997, P= 0.026). The optimal cut-off point for predicting patients who were unable to achieve complete remission based on duration of disease was 7.5 months (AUG = 0.711). Patients with CD with additional disease had greater difficulty achieving complete remission than those with CD alone based on TWSTRS assessments (P= 0.049). During the study, approximately 17% of all participants reported experiencing adverse reactions that lasted between 1 to 3 weeks before disappearing. BoNT is an effective and safe method for treating CD. The maximum remission rates of patients after their first injections are influenced by the duration of their disease. Thus, treatment using BoNT injections must be administered as soon as possible.

Short-term stimulations of the entopeduncular nucleus induce cerebellar changes of c-Fos expression in an animal model of paroxysmal dystonia

Deep brain stimulation (DBS) of the globus pallidus internus (entopeduncular nucleus, EPN, in rodents) is important for the treatment of drug-refractory dystonia. The pathophysiology of this movement disorder and the mechanisms of DBS are largely unknown. Insights into the mechanisms of DBS in animal models of dystonia can be helpful for optimization of DBS and add-on therapeutics. We recently found that short-term EPN-DBS with 130 Hz (50 µA, 60 µs) for 3 h improved dystonia in dtsz hamsters and reduced spontaneous excitatory cortico-striatal activity in brain slices of this model, indicating fast effects on synaptic plasticity. Therefore, in the present study, we examined if these effects are related to changes of c-Fos, a marker of neuronal activity, in brains derived from dtsz hamsters after these short-term DBS or sham stimulations. After DBS vs. sham, c-Fos intensity was increased around the electrode, but the number of c-Fos+ cells was not altered within the whole EPN and projection areas (habenula, thalamus). DBS did not induce changes in striatal and cortical c-Fos+ cells as GABAergic (GAD67+ and parvalbumin-reactive) neurons in motor cortex and striatum. Unexpectedly, c-Fos+ cells were decreased in deep cerebellar nuclei (DCN) after DBS, suggesting that cerebellar changes may be involved in antidystonic effects already during short-term DBS. However, the present results do not exclude functional changes within the basal ganglia–thalamo-cortical network, which will be further investigated by long-term EPN stimulations. The present study indicates that the cerebellum deserves attention in ongoing examinations on the mechanisms of DBS in dystonia.

Applicability of clinical genetic testing for deep brain stimulation treatment in monogenic Parkinson's disease and monogenic dystonia: a multidisciplinary team perspective.

In this perspective article, we highlight the possible applicability of genetic testing in Parkinson's disease and dystonia patients treated with deep brain stimulation (DBS). DBS, a neuromodulatory technique employing electrical stimulation, has historically targeted motor symptoms in advanced PD and dystonia, yet its precise mechanisms remain elusive. Genetic insights have emerged as potential determinants of DBS efficacy. Known PD genes such as GBA, SNCA, LRRK2, and PRKN are most studied, even though further studies are required to make firm conclusions. Variable outcomes depending on genotype is present in genetic dystonia, as DYT-TOR1A, NBIA/DYTPANK2, DYT-SCGE and X-linked dystonia-parkinsonism have demonstrated promising outcomes following GPi-DBS, while varying outcomes have been documented in DYT-THAP1. We present two clinical vignettes that illustrate the applicability of genetics in clinical practice, with one PD patient with compound GBA mutations and one GNAL dystonia patient. Integrating genetic testing into clinical practice is pivotal, particularly with advancements in next-generation sequencing. However, there is a clear need for further research, especially in rarer monogenic forms. Our perspective is that applying genetics in PD and dystonia is possible today, and despite challenges, it has the potential to refine patient selection and enhance treatment outcomes.

Hypertrophy of the Spinalis Cervicis Muscle in Cervical Dystonia.

Botulinum neurotoxin A (BoNT) is the first line treatment for cervical dystonia (CD) and treatment outcome significantly depends on the correct identification of the muscles involved. In a case with insufficient response to BoNT treatment further work up with magnetic resonance imaging (MRI) of the neck revealed a hypertrophic spinalis cervicis muscle, that is not commonly involved in CD. This highlights the use of MRI for muscle selection in treatment refractory CD cases.

Methodology of botulinum therapy in the treatment of dystonic scoliosis in generalized dystonia (clinical case)

Dystonic scoliosis as one of the forms of generalized dystonia is a highly disabling form of dystonia, which can lead to damage to internal organs (lungs, heart) and the peripheral nervous system, including the spinal cord. Almost always, those muscles that are involved in the formation of a dystonic posture in generalized dystonia have not been studied in terms of the effectiveness of treatment with botulinum toxin type A and are not reflected in the instructions. As a result, there is no understanding of the general motor interaction with differentiation into targeted and non-targeted muscles, administration doses and control methods.The aim of the work was to evaluate the efficacy and tolerability of high doses of botulinum toxin type A in dystonic scoliosis, as well as to present the introduction of botulinum toxin type A using ultrasound and electromyographic control. We have described a clinical case of a 19-year-old patient suffering from generalized dystonia with S-shaped dystonic scoliosis of the III degree. Deep brain stimulation was recommended as a treatment for the patient. During the waiting period for the timing of the operation, we attempted symptomatic therapy using the drug incobotulotoxin A. Over the next year and a half, 700 units of botulinum toxin type A were administered under ultrasound and electromyographic control every 3–4 months. As a result, treatment of trunk dystonia in the patient during the observation period led to a clinically significant decrease in the degree of curvature (from 37° to 27°, from III to II degree of scoliosis) in the absence of undesirable effects of the drug, including generalized muscle weakness. According to the repeated conclusion of the council of neurosurgeons, surgical intervention is not indicated for the patient due to the positive effect of the introduction of botulinum toxin type A.

Functional Movement Disorder; Importance of Proper Diagnosis and Treatment: A Case Report

Background: Dystonia is a common movement disorder with a wide range of aetiologies. Delays in the identification and initiation of effective treatments should be minimized to improve patient pain and optimize outcomes. This case report aims to underscore the successful treatment of chronic dystonia with the use of mood-modifying serotonin and norepinephrine reuptake inhibitors (SNRI), and encourage clinicians to consider a diagnosis of functional (psychogenic) movement disorder in patients with dystonia that is refractory to usual treatment.&#x0D; Case Report: This case report describes a 40-year-old woman who presented to a chronic pain clinic for pain related to cervical dystonia with associated head tremor. Her symptoms were refractory to nearly a decade of quarterly botulinum toxin injections. Based on careful evaluation of the patient’s history, a normal neurological examination, increased Generalized Anxiety Disorder Scale (GAD-7), Patient Health Questionnaire-9 (PHQ-9), and Injustice Experiences Questionnaire (IEQ) scores, and unsuccessful symptom management with botulinum toxin A, a diagnosis of functional movement disorder (FMD) was made. Low-dose Cymbalta was initiated. The patient achieved near complete symptom remission and resolution of her chronic pain within 2 months and achieved near complete resolution in 2 years.&#x0D; Conclusion: A diagnosis of FMD should be considered in all patients with dystonia, but especially in patients who respond inadequately to botulinum toxin injections or other rehabilitation therapies. The treatment of comorbid psychiatric conditions can result in substantial benefits and remission from dystonia due to FMD.

Treatment of Intrathecal Drug Pump Flipping Using Fascial Flaps: A Technical Description and Case Series.

Intrathecal drug therapy is a common treatment for dystonia, pain, and spasticity using implanted pump and catheter systems. Standardized management of intrathecal drug pump (ITDP) migration and flipping has not been well established in the literature. This study reports the use of soft tissue to address less common pump complications such as pump flipping, migration, and difficulty in medication refill. A retrospective chart review of intrathecal pump cases performed by two surgeons between February 2020 and August 2022 was conducted. Patients with complications such as pump flipping, migration, or challenges in medication refill treated with soft tissue flaps were included. Patient demographics, comorbidities, and perioperative data were collected. A total of five patients with ITDP complicated by pump flipping, migration, malposition, or difficulty in medication refill that were treated using fascial flaps were included in the study. Three technical considerations when revising ITDP complications are secure pump anchoring, reliable wound closure, and ease of pump medication refill. Cases 1 and 2 demonstrate the technique of secure pump anchoring with a rectus fascial flap. Cases 3 and 4 show a technique to achieve reliable vascularized wound closure, and case 5 describes a technique to solve an uncommon problem of a thick subcutaneous abdominal tissue preventing the refill of the ITDP medication. Soft tissue flaps may serve as a treatment option for patients with uncommon ITDP complications. De-epithelialized dermal fasciocutaneous or fascial flaps may be developed to anchor the pump more securely. Cross-discipline collaboration may further delineate the technique, benefits, and outcomes of this approach.

Novel utilization of deep brain stimulation in the pedunculopontine nucleus with globus pallidus internus for treatment of childhood-onset dystonia

IntroductionDeep brain stimulation (DBS) is a well-documented therapy for dystonia utilized in many adult and pediatric movement disorders. Pedunculopontine nucleus (PPN) has been investigated as a DBS target primarily in adult patients with dystonia or dyskinesias from Parkinson’s disease, showing improvement in postural instability and gait dysfunction. Due to the difficulty in targeting PPN using standard techniques, it is not commonly chosen as a target for adult or pediatric pathology. There is no current literature describing the targeting of PPN in DBS for childhood-onset dystonia.MethodsTwo pediatric and one young adult patient with childhood-onset dystonia who underwent DBS implantation at our institution were identified. Patient 1 has Mitochondrial Enoyl CoA Reductase Protein-Associated Neurodegeneration (MEPAN) syndrome. Patient 2 has Glutaric Aciduria Type 1 (GA1). Patient 3 has atypical pantothenate kinase-associated neurodegeneration (PKAN). PPN was identified as a potential target for these patients due to axial or orofacial dystonia. Pre- and post-operative videos taken as part of routine clinical assessments were evaluated and scored on the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) and Barry-Albright Dystonia Scale (BADS). All patients had permanent electrodes placed bilaterally in PPN and globus pallidus internus (GPi). A Likert scale on quality of life was also obtained from the patient/parents as applicable.ResultsSignificant programming was necessary over the first 3–12 months to optimize patients’ response to stimulation. All patients experienced at least a 34% improvement in the BFMDRS score. Patients 2 and 3 also experienced an over 30% improvement in BADS score. All patients/parents appreciated improvement in quality of life postoperatively.DiscussionDeep brain stimulation in PPN was safely and successfully used in two pediatric patients and one young adult patient with childhood-onset dystonia. These patients showed clinically significant improvements in BFMDRS scoring post operatively. This represents the first reported DBS targeting of PPN in pediatric patients, and suggests that PPN is a possible target for pediatric-onset dystonia with axial and orofacial symptoms that may be refractory to traditional pallidal stimulation alone.

Cervical dystonia: ways to achieve long-term treatment eff ects and improve patients’ quality of life

The main treatment for cervical dystonia (CD) is botulinum toxin type A (BTA) injections, but several long-term studies have found that between 19-46% of patients discontinue treatment. Anxiety and depression play a signi fi cant role in reducing the quality of life in patients with CD, according to previous surveys.Aim: to assess the dynamics of CD symptom severity, emotional disturbance, and quality of life in patients under different treatment methods.Material and methods. 61 patients with CD, 16 (26%) men and 45 (74%) women, age 50 [40; 59] years, duration of illness 4 [2; 7] years, age at onset 44 [34; 54] years, were studied. Changes in motor and aff ective disturbances, quality of life in patients with CD were assessed after 2 and 4 months in the context of diff erent treatment methods — BTA monotherapy, antidepressant (AD), combined therapy (AD + AD).Results. Combination therapy (BT + AD) was shown to be superior to BTA monotherapy in long-term follow-up of patients in terms of correction of depression, anxiety, integrative assessment of quality of life and severity of dystonia. After 4 months of treatment, the (BT + AD) subgroup maintained the positive trend achieved in dystonia severity (p &lt; 0.001). At the end of the follow-up period in the BT group, the positive eff ect of therapy had regressed to baseline levels of dystonia severity.Conclusion. To achieve a sustained therapeutic response in patients with CD, diagnosis and appropriate correction of emotional disturbances is necessary. The potential effi cacy of antidepressants in the treatment of motor and sensory symptoms of CD requires further investigation.

GPi-DBS-induced brain metabolic activation in cervical dystonia

BackgroundDeep brain stimulation (DBS) of the globus pallidus interna (GPi) is a highly efficacious treatment for cervical dystonia, but its mechanism of action is not fully understood. Here, we investigate...

Proprioceptive Modulation of Pallidal Physiology in Cervical Dystonia.

There is a growing body of evidence suggesting that botulinum toxin can alter proprioceptive feedback and modulate the muscle-spindle output for the treatment of dystonia. However, the mechanism for this modulation remains unclear. We conducted a study involving 17 patients with cervical dystonia (CD), seven of whom had prominent CD and 10 with generalized dystonia (GD) along with CD. We investigated the effects of neck vibration, a form of proprioceptive modulation, on spontaneous single-neuron responses and local field potentials (LFPs) recorded from the globus pallidum externus (GPe) and internus (GPi). Our findings demonstrated that neck vibration notably increased the regularity of neck-sensitive GPi neurons in focal CD patients. Additionally, in patients with GD and CD, the vibration enhanced the firing regularity of non-neck-sensitive neurons. These effects on single-unit activity were also mirrored in ensemble responses measured through LFPs. Notably, the LFP modulation was particularly pronounced in areas populated with burst neurons compared to pause or tonic cells. The results from our study emphasize the significance of burst neurons in the pathogenesis of dystonia and in the efficacy of proprioceptive modulation for its treatment. Moreover, we observed that the effects of vibration on focal CD were prominent in the α band LFP, indicating modulation of pallido-cerebellar connectivity. Moreover, the pallidal effects of vibration in GD with CD involved modulation of cerebro-pallidal θ band connectivity. Our analysis provides insight into how vibration-induced changes in pallidal activity are integrated into the downstream motor circuit. © 2023 International Parkinson and Movement Disorder Society.

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.

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.

Black and hispanic patients with movement disorders less likely to undergo deep brain stimulation

BackgroundDBS is an effective surgical treatment for ET, PD, and dystonia. Racial disparities in DBS utilization in PD have been documented demonstrating that Black patients receive DBS at lower rates than White patients. To our knowledge, no studies have investigated if this pattern of non-use persists in other movement disorders with FDA-approval. ObjectiveTo identify racial and ethnic disparities in DBS utilization in those hospitalized for ET, PD, and dystonia. MethodsThe NIS database was queried for US hospitalizations from 2012 to 2018 with a primary diagnosis of ET, PD, or dystonia, and a total of 3,363, 21,963, and 1,835 discharges were recorded, respectively. Within that sample, treatment with DBS was identified. Sex, race, age, payment method, income quartile, year, mortality risk, hospital size, urban/rural setting, teaching status, and geographic region were extracted. A multivariate logistic regression was performed to identify predictors for use and non-use of DBS. ResultsBetween 2012 and 2018, Black patients with PD, ET, and dystonia were less likely to receive DBS than White patients. Black patients with PD were 7 times less likely to receive DBS (OR = 0.145, CI = 0.111–0.189), and Black patients with ET and dystonia were 5 times less likely to receive DBS than White patients (OR = 0.188, CI = 0.124–0.285; OR = 0.186, CI = 0.084–0.414). Compared to White patients, Hispanic patients with PD (OR = 0.631, OR = 0.539–0.740) and ET (OR = 0.438, CI = 0.277–0.695) were less likely to undergo DBS. When controlling for patient and hospital level characteristics, racial and ethnic disparities remained. ConclusionsOur data suggest that Black patients with a diagnosis of ET, PD, or dystonia and Hispanic patients with a diagnosis of ET or PD were less likely to be treated with DBS than White patients between 2012 and 2018.

DYT-TOR1A dystonia: an update on pathogenesis and treatment.

DYT-TOR1A dystonia is a neurological disorder characterized by involuntary muscle contractions and abnormal movements. It is a severe genetic form of dystonia caused by mutations in the TOR1A gene. TorsinA is a member of the AAA + family of adenosine triphosphatases (ATPases) involved in a variety of cellular functions, including protein folding, lipid metabolism, cytoskeletal organization, and nucleocytoskeletal coupling. Almost all patients with TOR1A-related dystonia harbor the same mutation, an in-frame GAG deletion (ΔGAG) in the last of its 5 exons. This recurrent variant results in the deletion of one of two tandem glutamic acid residues (i.e., E302/303) in a protein named torsinA [torsinA(△E)]. Although the mutation is hereditary, not all carriers will develop DYT-TOR1A dystonia, indicating the involvement of other factors in the disease process. The current understanding of the pathophysiology of DYT-TOR1A dystonia involves multiple factors, including abnormal protein folding, signaling between neurons and glial cells, and dysfunction of the protein quality control system. As there are currently no curative treatments for DYT-TOR1A dystonia, progress in research provides insight into its pathogenesis, leading to potential therapeutic and preventative strategies. This review summarizes the latest research advances in the pathogenesis, diagnosis, and treatment of DYT-TOR1A dystonia.

Deep Brain Stimulation for Dystonia: Experience of a Moroccan University Hospital

BackgroundDeep brain stimulation (DBS) is a well-established procedure that provides long-term symptom control of the third most common movement disorder: dystonia. In this study, we aim to report the experience of Ibn Rochd University Hospital in the treatment of dystonia using DBS of the globus pallidus internus, which represents an exceptional challenge for a developing country such as Morocco. MethodsSince 2013, we selected five eligible candidates for DBS surgery at the university hospital Ibn Rochd. A genetic assessment had been performed in four cases. Their motor and mental states were prospectively monitored using several validated scales, including Burke-Fahn-Marsden Dystonia Rating Scale, Mini Mental State Examination, 36-Item Short Form Survey, and Zarit scale. ResultsOur sample had two clinical phenotypes of dystonia: isolated dystonia (in two patients) and combined dystonia (in three patients). Patients were aged 14 to 32 years, and their mean onset age ranged from 7 to 13 years with a mean progression duration of 9 years. Our results indicate successful treatment of patients with dystonia using DBS. Scores from the Burke-Fahn-Marsden Dystonia Rating Scale confirm improvements ranging from 40% to 95%. However, some potentially surgery-related complications could occur such as lead infection, which, in our experience, was reported in one case. ConclusionThe experience of the university hospital Ibn Rochd regarding the use of DBS in treating dystonia was largely positive. However, the procedure faces challenges due to its complexity, specifically concerning its multidisciplinary nature, its genetic test costs, and the reluctance of pediatricians to get involved.

Treatment of cervical dystonia using shorter incobotulinumtoxinA injection intervals improves patient-reported outcomes in those with inadequate benefits from standard intervals

Treatment of cervical dystonia using shorter incobotulinumtoxinA injection intervals improves patient-reported outcomes in those with inadequate benefits from standard intervals