Burke-Fahn-Marsden Dystonia Rating Scale Scores Research Articles

Long-term follow-up of pallidal deep brain stimulation for craniocervical dystonia: is the globus pallidus internus the best target?

Craniocervical dystonia (CCD) is a common type of segmental dystonia, which is a disabling disease that has been frequently misdiagnosed. Blepharospasm or cervical dystonia is the most usual symptom initially. Although deep brain stimulation (DBS) of the globus pallidus internus (GPi) has been widely used for treating CCD, its clinical outcome has been primarily evaluated in small-scale studies. This research examines the sustained clinical effectiveness of DBS of the GPi in individuals diagnosed with CCD. The authors report 24 patients (14 women, 10 men) with refractory CCD who underwent DBS of the GPi between 2016 and 2023. The severity and disability of the dystonia were evaluated using the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS). The BFMDRS scores were collected preoperatively, 6 months postoperatively, and at the most recent follow-up visit. The mean age at onset was 52.0 ± 11.0 years (range 33-71 years) and the mean disease duration was 63.3 ± 73.3 months (range 7-360 months) (values for continuous variables are expressed as the mean ± SD). The mean follow-up period was 37.5 ± 23.5 months (range 6-84 months). The mean total BFMDRS motor scores at the 3 different time points were 13.3 ± 9.4 preoperatively, 5.0 ± 4.7 (55.3% improvement, p < 0.001) at 6 months, and 4.5 ± 3.6 (56.6% improvement, p < 0.001) at last follow-up. The outcomes were deemed poor in 6 individuals. Inferences drawn from the findings suggest that DBS of the GPi has long-lasting effectiveness and certain limitations in managing refractory CCD. The expected stability of the clinical outcome is not achieved. Patients with specific types of dystonia might consider targets other than GPi for a more precise therapy.

Effects of onabotulinum toxin type A injections in patients with Meige's syndrome.

Meige's syndrome is a type of facial dystonia characterized by the simultaneous occurrence of blepharospasm and oromandibular dystonia. Although botulinum toxin type A (OBTA) injections are the standard treatment, evidence of their effectiveness and safety in this scenario is still lacking. Our research aimed to evaluate the improvement and occurrence of side effects following injections of onabotulinum toxin type A (OBTA) in patients with Meige's syndrome. Patients with Meige's syndrome undergoing botulinum toxin injections were enrolled in this study. We assessed dystonia intensity before and 14 days after OBTA injection using the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) to measure the response of symptoms in the eyes (blepharospasm) and mouth (oromandibular dystonia). Other variables, such as dosage, side effects, and demographic data, were also recorded. The study included 41 participants, with a mean age of 67.7 years and a female-to-male ratio of 3.5:1. The mean BFMDRS score before the injections was 8.89, and after 14 days, it was 2.88. The most reported side effect was ptosis, with a 7.3% incidence. OBTA significantly reduced dystonia severity (p < 0.0001). The clinical response for the blepharospasm component was superior to the oromandibular dystonia component. Our results support that OBTA seems to be an effective and safe therapeutic option for treating Meige's syndrome. The effect of OBTA was more pronounced in the treatment of blepharospasm than in oromandibular dystonia.

Non-motor symptoms in patients with isolated dystonia: comparison between the age of onset

Background: The etiology and motor presentation differs between pediatric- and adult-onset dystonia. Emerging evidence has demonstrated that non-motor symptoms are frequent in adult dystonia, which affect the quality of life. By contrast, little is known about the frequency and severity of such presentations in pediatric-onset individuals. Here, we investigated the motor and non-motor symptoms in a large cohort of Chinese patients with isolated dystonia and compared between pediatric-onset and adult-onset groups.Methods: In this retrospective study, 34 pediatric-onset patients and 197 adult-onset patients with isolated dystonia were recruited. Motor impairment was assessed by the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS). Non-motor symptoms were evaluated through several validated scales, including fatigue (by Fatigue Severity Scale, FSS), excessive daytime sleepiness (by Epworth Sleepiness Scale, ESS), sleep disturbance (by Pittsburgh Sleep Quality Index, PSQI), anxiety (by Beck Anxiety Inventory, BAI) and depression (by Beck Depression Inventory 21, BDI-21).Results: Generalized dystonia was more common in pediatric-onset patients and focal dystonia was more common in adult-onset patients (p &amp;lt; 0.001). Generally, the BFMDRS score in total pediatric-onset group was higher than adult-onset group (p = 0.002). No differences was found in BFMDRS score between pediatric-onset and adult-onset patients with cervical and multifocal subtype dystonia. Compared with adult-onset group, pediatric-onset group had a lower rate of sleep disturbance (p &amp;lt; 0.0001) and similar rates of fatigue, excessive daytime sleepiness, depression and anxiety. Logistic regression analysis on patients with cervical dystonia indicated that the adult-onset and motor severity were independently associated with increased odds of sleep disturbance (p = 0.03) and depression (p = 0.01), respectively.Conclusion: Pediatric-onset dystonia patients were less likely to display focal dystonia. Most non-motor symptoms in pediatric-onset patients were comparable to their adult-onset counterparts. Non-motor presentations may to some extent correlate with motor symptoms, but their underlying pathophysiology need to be investigated further.

Application of deep brain stimulation for the treatment of childhood-onset dystonia in patients with MEPAN syndrome.

Mitochondrial Enoyl CoA Reductase Protein-Associated Neurodegeneration (MEPAN) syndrome is a rare inherited metabolic condition caused by MECR gene mutations. This gene encodes a protein essential for fatty acid synthesis, and defects cause progressively worsening childhood-onset dystonia, optic atrophy, and basal ganglia abnormalities. Deep brain stimulation (DBS) has shown mixed improvement in other childhood-onset dystonia conditions. To the best of our knowledge, DBS has not been investigated as a treatment for dystonia in patients with MEPAN syndrome. Two children with MEPAN were identified as possible DBS candidates due to severe generalized dystonia unresponsive to pharmacotherapy. Temporary depth electrodes were placed in six locations bilaterally and tested during a 6-day hospitalization to determine the best locations for permanent electrode placement. The Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) and Barry-Albright Dystonia Scale (BADS) were used for preoperative and postoperative testing to quantitatively assess dystonia severity changes. Patient 1 had permanent electrodes placed at the globus pallidus internus (GPi) and pedunculopontine nucleus (PPN). Patient 2 had permanent electrodes placed at the GPi and ventralis intermedius nucleus of the thalamus (VIM). Both patients successfully underwent DBS placement with no perioperative complications and significant improvement in their BFMDRS score. Patient 2 also demonstrated improvement in the BADS. We demonstrated a novel application of DBS in MEPAN syndrome patients with childhood-onset dystonia. These patients showed clinically significant improvements in dystonia following DBS, indicating that DBS can be considered for dystonia in patients with rare metabolic disorders that currently have no other proven treatment options.

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.

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.

The efficacy and safety of nerve loop blocking in the treatment of blepharospasm in Meige syndrome

Objective: To evaluate the efficacy and safety of nerve loop blocking in the treatment of blepharospasm caused by Meige syndrome. Methods: It was a retrospective case series study. Patients with Meige syndrome characterized by blepharospasm or blepharospasm-oromandibular dystonia who underwent nerve loop blocking in the Ophthalmology Department of Henan No. 3 Provincial People's Hospital from April 2018 to January 2020 were included. Before and after surgery, blepharospasm was graded, and the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) was used to score the symptoms of ocular and oral dystonia. The improvement rate of ocular spasm was calculated after surgery according to the scores. The postoperative complications were observed. The Wilcoxon rank test was used to compare the BFMDRS movement subscale scores before and after surgery. The independent sample Mann-Whitney U test was used to compare the improvement rates of eye spasm between male and female patients and between patients with and without combined oromandibular dystonia. Results: Among the 199 patients included, 64 (32.2%) were males, and 135 (67.8%) were females, aged 58 (51, 64) years (22-79 years). The postoperative follow-up period was 24 (21, 28) months. Preoperatively, blepharospasm was graded as grade 3 in 12 patients (6.0%) and grade 4 in 187 patients (94.0%), while the postoperative blepharospasm grades were grade 0 in 100 patients (50.3%), grade 1 in 64 patients (32.2%), grade 2 in 31 patients (15.6%), and grade 3 in 4 patients (2.0%). There was statistically significant difference in the BFMDRS scores of ocular dystonia before and after surgery [8.0 (8.0, 8.0) vs. 0.0 (0.0, 1.0); Z=-12.41, P<0.001]. The improvement rate of blepharospasm in all patients was 100% (87.5%, 100%), ranging from 43.8% to 100%, with no statistically significant difference between patients of different genders and between patients with and without combined oral dystonia (both P>0.05). Statistically significant difference existed in the scores of oral dystonia before and after surgery [2.0 (0.5, 4.5) vs. 1.0 (0.5, 2.0); Z=-4.38, P<0.001], with 25 of 65 patients (38.5%) having their oral symptoms improved. Postoperative complications included eyelid valgus (7.5%, 15/199), frontal numbness (100%, 199/199) and tearing (89.9%, 179/199). Conclusion: Nerve loop blocking is a relatively safe and effective method in the treatment of blepharospasm symptoms of Meige syndrome.

THE EFFECT OF DEEP BRAIN STIMULATION ON MOTOR FUNCTIONS AND QUALITY OF LIFE IN THE TREATMENT OF DYSTONIA

Background/Aims: The present study aims to evaluate the levels of depression and health-related quality of life (HRQoL) after surgical globus pallidus internus deep brain stimulation (Gpi-DBS) treatment in patients with generalized and segmental dystonia refractory to medical treatment. Methods: Seventeen patients diagnosed with primary and secondary dystonia who were selected for GPi-DBS by the neurology, neurosurgery, and psychiatry council were included in the study. The patients were divided into two groups: primary dystonia and secondary dystonia. All patients were evaluated using the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) to assess dystonia-related loss of function and disability, the Short Form 36 (SF-36) to assess HRQoL levels, and the Beck Depression Inventory (BDI) to assess depression levels before Gpi-DBS and 1 year after Gpi-DBS, retrospectively. Results: In this study, significant improvement in BFMDRS scores and significant improvement in HRQoL levels were observed after 1 year of Gpi-DBS treatment in all dystonia types. Moreover, significant improvement was found in dystonia severity and disability levels, and HRQoL levels in primary dystonia and secondary dystonia subgroups. Conclusions: We suggest that Gpi-DBS improves dystonia symptoms, and increases HRQoL levels in dystonia. In addition, this study is the first in Turkey to evaluate the effect of Gpi-DBS on HRQoL levels in dystonia. However, we believe that further research with more participants is also needed in Turkey in this regard.

Micro lesion effect of pallidal deep‑brain stimulation for meige syndrome

To analyse the microlesion effect (MLE) in the globus pallidus interna (GPi) of deep brain stimulation (DBS) in patients with Meige syndrome. Thirty-two patients with primary Meige syndrome who underwent GPi-DBS in this study. Burke–Fahn–Marsden Dystonia Rating Scale scores (BFMDRS-M) were obtained for the evaluation of clinical symptoms at 3 days before DBS (baseline), 24 h after DBS surgery, once weekly for 1 month until electrical stimulation, 6 months postoperatively and 12 months after surgery. Twenty-seven patients had MLE after GPi-DBS. The mean time of BFMDRS-M scores maximal improvement from MLE was 35.9 h postoperatively (range, 24–48 h), and the mean scores improved by 49.35 ± 18.16%. At 12 months after surgery, the mean BFMDRS-M scores improved by 50.28 ± 29.70%. There was a positive correlation between the magnitude of MLE and the motor score at 12 months after GPi-DBS (R2 = 0.335, p < 0.05). However, there was no correlation between the duration of MLE and DBS improvement. Most Meige syndrome patients who underwent GPi-DBS and had MLE benefited from MLE. For Meige syndrome, MLE might be a predictive factor for patient clinical symptom improvement from DBS.

Bilateral pallidotomy for acquired or heredodegenerative generalized dystonia in children.

Dystonias are relatively rare disorders characterized by sustained or intermittent muscle contractions causing abnormal movements or postures. Generalized dystonia is a therapeutic challenge because medications are unable to control dystonia adequately in most patients. These patients may be candidates for surgical therapy. The commonly used surgical procedures in these patients are pallidotomy and deep brain stimulation. Limited studies are available on the role of pallidotomy in children with acquired/heredodegenerative generalized dystonia. The objective of this study was to describe the authors' experience with bilateral pallidotomy in this group of patients. The authors retrospectively reviewed all pediatric patients (less than 18 years of age) with acquired/heredodegenerative generalized dystonia who underwent bilateral simultaneous pallidotomy at their center between January 2014 and January 2021. Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) scores before and after surgery were recorded. Complications arising after the procedure were recorded as well. Ten patients (8 male and 2 female) with a mean (range) age of 11.1 (5-17) years were included in this study. The mean duration between disease onset and surgical intervention was 3.9 years. Two patients presented in status dystonicus. The mean ± SD (range) preoperative BFMDRS score of the patients without status dystonicus (n = 8) was 80 ± 18.9 (59.5-108). The mean ± SD BFMDRS score at the time of discharge from the hospital after surgery was 58.8 ± 37.9. Three patients had more than 20% change in BFMDRS score at the time of discharge from the hospital. The mean improvement was 25.5% at the end of 1 year. Of 5 surviving patients in the non-status dystonicus group, 3 patients had more than 40% change in BFMDRS score while the other 2 patients developed recurrence at the last follow-up (4.5 years). Status dystonicus abated after bilateral pallidotomy in both patients. Permanent bulbar complications were seen in 2 patients. Bilateral pallidotomy may result in clinically significant improvement in children with acquired/heredodegenerative generalized dystonia, although the benefits should be closely weighed against the risk of irreversible bulbar dysfunction. It is a viable option for children in resource-limited settings.

Combined thalamic and pallidal deep brain stimulation for dystonic tremor

BackgroundDeep brain stimulation (DBS) has been proposed to treat disabling dystonic tremor (DT), but there is debate about the optimal target. DBS of the globus pallidus interna (GPi) may be insufficient to control tremor, and DBS of the ventral intermediate thalamic nucleus (VIM) may inadequately control dystonic features, raising the question of combining both targets. ObjectivesTo report the respective effects on DT symptoms of high-frequency stimulation of the VIM, the GPi and both targets simultaneously stimulated. MethodsThree patients with DT treated by bilateral high frequency DBS of 2 targets (VIM and GPi) were assessed 12 months after surgery in 4 conditions (VIM and GPi-DBS; GPi-DBS only; VIM-DBS only; DBS switched Off for both targets) by 3 independent movement disorders specialists blinded to the condition. ResultsThe Fahn-Tolosa-Marin-tremor-rating-scale (FTM-TRS) and Burke-Fahn-Marsden-dystonia-rating-scale (BFM-DRS) scores were more improved by combined DBS than VIM alone or GPi alone. Compared to Off/Off condition, mean total FTM-TRS score decrease was 34%, 42% and 63% respectively with VIM only, GPi only and combined VIM and GPi stimulation. Mean total BFM-DRS score decrease was 34%, 37% and 60% respectively with VIM only, GPi only and combined VIM and GPi stimulation, compared to Off/Off condition. Improvement concerned both motor, functional and activities of daily living sub-scores. No complications or adverse events were observed. ConclusionCombined VIM- and GPi-DBS, by modulating the cerebello-thalamo-cortical network and the basal ganglia-thalamo-cortical network, both involved in DT pathophysiology, may be more efficient than single DBS targeting only one of them.

Bilateral Pallidal Stimulation in a Family With Myoclonus Dystonia Syndrome Due to a Mutation in the Sarcoglycan Gene

ObjectivesThe study aimed to present a family with myoclonus dystonia (M-D) syndrome due to a mutation in the epsilon sarcoglycan gene (SGCE). Three members of the family suffered from treatment-refractory severe myoclonic jerks of the neck, trunk, and upper extremities. The mild dystonic symptoms recognized as cervical dystonia or truncal dystonia affected all individuals. The efficacy of pharmacotherapy, including anticholinergic, dopaminergic, and serotoninergic drugs, has failed. One individual developed an alcohol dependency and suffered from alcoholic epilepsy. Materials and MethodsThe patients were referred for stereotactic surgery. All individuals underwent bilateral implantation of deep brain stimulation (DBS) leads into the posteroventrolateral segment of the globus pallidus internus (GPi). Surgeries were uneventful. The formal preoperative objective assessment included the Unified Myoclonus Rating Scale (UMRS) and the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS). The postoperative UMRS and BFMDRS assessments were done only under continuous stimulation at 3, 6, and 12 months after the surgery and at the last available follow-up ranging from 6 to 15 months (mean, 10 months follow-up). ResultsAt the last follow-up visit, the rest and action parts of UMRS were improved by 93.3% and 88.2%, respectively, when compared to the baseline scores. The motor and disability scales of BFMDRS were improved by 77% and 43% at the last follow-up visit compared to the baseline BFMDRS scores. There were no hardware or stimulation-induced complications over the follow-up period. Positive social adjustment allowed two patients to regain jobs and one patient continued his education and hobbies. ConclusionOur experience gathered in three individuals in the family with a mutation in SGCE indicates that bilateral GPi DBS can be an effective and safe treatment for disabling pharmacological resistant, intractable M-D syndrome.

Acupuncture for dystonia in brain-type Wilson's disease with internal retention of damp heat pattern: A randomized clinical trail针刺治疗湿热内蕴型肝豆状核变性脑型肌张力障碍-随机临床试验

ObjectiveTo observe the clinical efficacy of acupuncture on dystonia in brain-type Wilson's disease (WD) with internal retention of damp heat pattern. MethodsA total of 60 patients with WD dystonia with internal retention of damp heat pattern were randomized into acupuncture and medication groups using a random number table, with 30 participants in each group. All patients had a low-copper diet and consumed dimercaptopropanesulfonate sodium (DMPS) for copper excretion. In the acupuncture group, on the base of the same treatment as that given to the medication group, acupuncture was applied at Băihuì (百会GV20), Shéntíng (神庭GV24), Chéngjiāng (承浆CV4), Jiānyú (肩髃LI5), Nàoshū (臑俞SI10), Wàiguān (外关TE5), Nèiguān (内关PC6), Shŏusānlĭ (手三里LI10), Hégŭ (合谷LI4), Yángxī (阳溪LI5), Huántiào (环跳GB30), Bìguān (髀关ST31), Yánglíngquán (阳陵泉GB34), Fēnglóng (丰隆ST40), Zúsānlĭ (足三里ST36), Sānyīnjiāo (三阴交SP6), Xuánzhōng (悬钟GB39), and Xíngjiān (行间LR2). Before and 24 days after treatment, the modified Ashworth scale (MAS) and Burke–Fahn–Marsden dystonia rating scale (BFMDRS) were used to evaluate dystonia symptoms.The allocation scheme was concealed for the outcome assessors. ResultsThe data of 30 cases were analyzed in each group.Before treatment, the MAS score difference between the acupuncture and medication groups was not statistically significant (P > 0.05). Compared with the score before treatment, the MAS score was lower significantly in both the acupuncture group (2.63 ± 0.76 vs 4.50 ± 0.78) and medication group (3.30 ± 0.65 vs 4.40 ± 0.77) after treatment (both P < 0.05). After treatment, the MAS score in the acupuncture group was significantly lower than that in the medication group (P < 0.01). Before treatment, the BFMDRS score was not significantly different between the two groups (P > 0.05). Compared with the score before treatment, the BFMDRS score was significantly lower in both the acupuncture (64.97 ± 14.26 vs 85.23 ± 16.99) and medication groups (11.33 ± 2.60 vs 75.40 ± 16.25) after treatment (both P < 0.05). The BFMDRS score of the acupuncture group was lower than that of the medication group after treatment (P < 0.05).During treatment, 1 case had allergic reaction of DMPS in the acupuncture group, manifested as reddish skin and skin rashes, and the allergic symptoms disappeared after anti-allergic treatment. There was no any adverse reaction in the medication group. ConclusionCombined treatment with acupuncture and Western medication is significantly effective against dystonia in brain-type WD with internal retention of damp heat pattern.

Specific movement and disability improvements in Burke-Fahn-Marsden Dystonia Rating Scale derived from pallidotomy in refractory patients to medical treatment

BackgroundDystonia is a movement disorder associated with significant disability and is usually refractory to medical treatment. Pallidotomy may decrease dystonic movements. The aim of this study was to quantify movement and disability improvements through Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS). MethodsWe carried out a longitudinal clinical study in patients with refractory primary and secondary dystonia, who underwent radiofrequency (RF) unilateral and bilateral lesions on the postero-ventro-lateral globus pallidus internus (GPi), evaluating the outcomes through BFMDRS and variables as age, time of evolution, etiology, body distribution, planned target coordinates, and lesion size, during a mean follow-up time of 35.67 months. ResultsNine RF pallidotomies were performed on 6 patients, 7 right-sided and 2 left-sided; three patients were treated unilaterally for one occasion, while the others underwent 2 surgeries, including one staged bilateral procedure. Mean BFMDRS scores for movement were 38.5 preoperative and 25.5 postoperative, and for disability were 20.4 preoperative and 17.3 postoperative. We noticed improvement in movement (32.54%, p = 0.001) and disability (17.23%, p = 0.002). There was one right GPi and internal capsule (IC) infarction with contralateral hemiparesis as sequelae. ConclusionsRF pallidotomy is an effective and accessible procedure to reduce BFMDRS scores in refractory dystonia if patients are correctly selected by severity, evolution, and disability as determining factors.

Surgical Management for Dystonia: Efficacy of Deep Brain Stimulation in the Long Term.

Introduction: Dystonia is a movement disorder substantially affecting the quality of life. Botulinum Neurotoxin (BoNT) is used intramuscularly as a treatment for dystonia; however, not all dystonia patients respond to this treatment. Deep brain stimulation (DBS) is an established treatment for Parkinson’s disease (PD) and essential tremor, but it can help in dystonia as well. Objectives: We studied a total of 67 dystonia patients who were treated with DBS over a period of 7 years to find out the long-term efficacy of DBS in those patients. First, we calculated patient improvement in post-surgery follow-up programs using the Global Dystonia Severity scale (GDS) and Burke–Fahn–Marsden dystonia rating scale (BFMDRS). Secondly, we analyzed the scales scores to see if there was any statistical significance. Methods: In our study we analyzed patients with ages from 38 to 78 years with dystonia who underwent DBS surgery between January 2014 and December 2020 in four different centers (India, Kuwait, Egypt, and Turkey). The motor response to DBS surgery was retrospectively measured for each patient during every follow-up visit using the GDS and the BFMDRS scales. Results: Five to 7 years post-DBS, the mean reduction in the GDS score was 30 ± 1.0 and for the BFMDRS score 26 ± 1.0. The longitudinal change in scores at 12 and 24 months post-op was also significant with mean reductions in GDS and BFMDRS scores of 68 ± 1.0 and 56 ± 1.0, respectively. The p-values were <0.05 for our post-DBS dystonia patients. Conclusions: This study illustrates DBS is an established, effective treatment option for patients with different dystonias, such as generalized, cervical, and various brain pathology-induced dystonias. Although symptoms are not completely eliminated, continuous improvements are noticed throughout the post-stimulation time frame.

Deep Brain Stimulation of the Globus Pallidus Internus for Secondary Dystonia: Clinical Cases and Systematic Review of the Literature Regarding the Effectiveness of Globus Pallidus Internus versus Subthalamic Nucleus

Deep brain stimulation (DBS) is a frequently applied therapy in primary dystonia. For secondary dystonia, the effects can be less favorable. We share our long-term findings in 9 patients with severe secondary dystonia and discuss these findings in the light of the literature. Patients who had undergone globus pallidus internus (GPi)-DBS for secondary dystonia were included. Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) scores, clinical improvement rates, follow-up periods, stimulation parameters and the need for internal pulse generator replacements were analyzed. The PubMed and Google Scholar databases were searched for articles describing GPi-DBS and subthalamic nucleus (STN)-DBS only for secondary dystonia cases. Keywords were "dystonia," "deep brain stimulation," "GPi," "dystonia," "deep brain stimulation," and "STN." A total of 9 secondary dystonia patients (5 male, 4 female) had undergone GPi-DBS with microelectrode recording in our units. The mean follow-up period was 29 months. The average BFMDRS score was 58.2 before thesurgery, whereas the mean value was 36.5 at the last follow-up of the patients (mean improvement, 39%; minimum, 9%; maximum, 63%). In the literature review, we identified 264 GPi-DBS cases (mean follow-up, 19 months) in 72 different articles about secondary dystonia. The mean BFMDRS improvement rate was 52%. In 146 secondary dystonia cases, reported in 19 articles, STN-DBS was performed. The average follow-up period was 20 months and the improvement in BFMDRS score was 66%. Although GPi-DBS has favorable long-term efficacy and safety in the treatment of patients with secondary dystonia, STN seems a promising target for stimulation in patients with secondary dystonia. Further studies including a large number of patients, longer follow-up periods, and more homogenous patients are necessary to establish the optimal target for DBS in the management of secondary dystonias.

Efficacy and safety of general anesthesia deep brain stimulation for dystonia: an individual patient data meta-analysis of 341 cases.

The efficacy and safety of deep brain stimulation (DBS) under general anesthesia for the treatment of dystonia have not yet been confirmed with high level of evidence. This meta-analysis with pooled individual patient data aims to assess the clinical outcomes and identify the potential prognostic factors of dystonia patients who underwent general anesthesia DBS. We searched PubMed, Web of Science, and Embase for articles describing patients with dystonia who underwent asleep DBS and had individual Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) scores. The relative improvement in BFMDRS scores was considered the primary outcome. Pearson correlation analyses and multivariate linear regression analysis were conducted to explore the prognostic factors. A total of 34 studies involving 341 patients were included. The mean postoperative improvement in BFMDRS-M (BFMDRS movement subscale) and BFMDRS-D (BFMDRS disability subscale) scores were 58.6±36.2% and 48.5±38.7% at the last follow-up visit, respectively, with a mean follow-up time of 22.4±27.6 months. Age at surgery and disease duration showed a negative correlation with the percent improvement of BFMDRS-M (%) at the last visit (r=-0.134, P=0.013; r=-0.165, P=0.006). In the stepwise multivariate regression, only disease duration remained a relevant factor. Additionally, the adverse events were acceptable. General anesthesia DBS is a safe, effective, and feasible option for dystonia patients in the long term. Shorter disease duration predicts better clinical outcomes.

Weight Change After Subthalamic Nucleus Deep Brain Stimulation in Patients With Isolated Dystonia.

Purpose: Deep brain stimulation of the subthalamic nucleus (STN-DBS) is an effective treatment method for advanced Parkinson's disease (PD) and isolated dystonia and provides marked improvement of major motor symptoms. In addition, non-motor effects have been reported including weight gain (WG) in patients with PD after STN-DBS. However, it is still unclear whether patients with isolated dystonia also experience WG.Methods: Data from 47 patients with isolated dystonia who underwent bilateral STN-DBS surgery between October 2012 and June 2019 were retrospectively collected. The severity of dystonia was assessed via the Burke–Fahn–Marsden Dystonia Rating Scale (BFMDRS). Changes in the body mass index (BMI) and BFMDRS score were analyzed using paired Student's t-tests. Regression analysis was performed to identify factors that affected the BMI after surgery.Results: Postoperative WG was observed in 78.7% of patients. The percentage of overweight and obese patients increased from 25.5% (before STN-DBS) to 48.9% (at the last follow-up). The mean BMI and mean percentage change in BMI increased by 1.32 ± 1.83 kg/m2 (P < 0.001) and 6.28 ± 8.34%, respectively. BMI increased more in female than in male patients. At the last follow-up, BFMDRS movement and disability scores improved by 69.76 ± 33.23% and 65.66 ± 31.41%, respectively (both P < 0.001). The final regression model analysis revealed that sex and preoperative BMI alone were independently associated with BMI change (P < 0.05).Conclusions: STN-DBS is associated with postoperative WG with patients with isolated dystonia. WG is more prominent in female patients and is associated with preoperative weight but not with the efficacy of STN-DBS on motor symptoms.

Generalized Dystonia Treated With Deep Brain Stimulator: An Institutional Single Surgeon Experience.

IntroductionDystonia can cause severe disability when left untreated. Once a patient has exhausted medical management, surgical intervention may be the only treatment option. Although not curative, deep brain stimulation has been shown to be beneficial for patients affected by this condition. Our study sought to review patients undergoing deep brain stimulation for medically refractory dystonia to assess outcomes.MethodsOur institution's operative database was reviewed retrospectively for all patients undergoing deep brain stimulator placement over the last six years. These medical records were reviewed for the severity of dystonia preoperatively and followed postoperatively for 24 months, focusing on the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS). Patients with less than two-year postoperative follow-up were excluded from the study. The patients were further stratified by age into Group A, consisting of patients less than 40 years old, and Group B, patients greater than or equal to 40 years old. Other attributes such as age, sex, age of disease onset, disease duration at the time of surgery, genetic tests for dystonia-related genes, and any complication associated with surgery were also reviewed.ResultsFour hundred fifty-five operative cases for deep brain stimulator placement were reviewed, and 16 patients met inclusion criteria for the study. The mean age for our patient cohort was 43.75 years, with four males and 12 females. The average time from the age of disease onset to time of surgery was 9.7 years for Group A and 10.8 years for Group B; the overall average was 10.3 years. All patients had globus pallidus interna (GPi) as their surgical target. The first incidence of a statistically significant decrease in BFMDRS score was noted at three months postoperatively (p<0.001) when compared to preoperative values. Fourteen patients in our cohort underwent preoperative genetic testing for DYT gene mutations, out of which four were found to have a mutation.ConclusionOur review of outcomes for primary generalized dystonia at our institution found that deep brain stimulator targeting the GPi is safe and effective. We found an overall 88% response rate with younger patients (< 40-year-old) showing a better response at two years than older patients.

Outcome analysis of deep brain stimulation for pediatric generalized dystonia

Objective To explore the feasibility and efficacy of deep brain stimulation (DBS) in the treatment of generalized dystonia in children. Methods A retrospective study was designed to investigate the clinical data of 12 children with generalized dystonia. All of them were treated with DBS at Department of Neurosurgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences from August 2015 to July 2018. Genetic etiology testing showed that 5 cases were type DYT-1, 1 case was type DYT-6, and 6 cases were idiopathic generalized dystonia. All children underwent head susceptibility-weighted imaging (SWI) to locate the target before surgery. The clinical efficacy of the children was assessed using the Burke-Fahn-Marsden dystonia rating scale (BFMDRS). In addition, 12 adult patients with generalized dystonia with matched gender, genotype were selected from our database. We compared and analyzed the difference in anatomy of the internal globus pallidus (GPi) between children and adults to evaluate the feasibility of operation. Results All patients were successfully implanted with electrodes without surgery-related complications. The average duration of follow-up was (19.8±9.6) months (12-47 months). The median BFMDRS scores at 3 months and 1 year after surgery were 15.5 (10-50) and 12.5 (4-48) respectively, which, compared with the preoperative score of 49.0(28-103), were significantly different (both P 8 years old was (75.5±4.7)mm (70.0-82.8 mm), which was not statistically different from that in the adults group (P=0.190). Conclusions Preliminary findings suggest that DBS could improve clinical symptoms without serious complications for the treatment of pediatric generalized dystonia with clear etiological causes. The anatomical location of the GPi in children >8 years old is not significantly different from that in adults. However, the long-term prognosis and incidence of complications such as electrode displacement still require more follow-up studies. Key words: Dystonia; Child; Deep brain stimulation; Generalized