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Background: Trihexyphenidyl and clonazepam are commonly used to treat dystonia in children with cerebral palsy (CP). However, there is a notable gap in the literature when it comes to studies that combine these first-line agents for the management of dystonia., Methods: This open-label, randomized controlled trial aimed to compare the efficacy of adding oral clonazepam to trihexyphenidyl (THP + CLZ) versus using trihexyphenidyl alone (THP) in reducing the severity of dystonia, as measured by the Barry-Albright Dystonia (BAD) score. The study was conducted over a 12-week therapy period in children with dystonic CP aged two to 14 years., Results: Each group enrolled 51 participants. The THP + CLZ group showed significantly better improvement in dystonia severity at 12 weeks compared with the THP group alone (-4.5 ± 2.9 vs -3.4 ± 1.7, P = 0.02). Furthermore, the THP + CLZ group exhibited superior improvement in the severity of choreoathetosis, upper limb function, pain perception by the child, and quality of life, with P values of 0.02, 0.009, 0.01, and 0.01, respectively. The number of participants experiencing treatment-emergent adverse events was comparable in both groups (P = 0.67). Importantly, none of the participants in any of the groups reported any serious adverse events., Conclusion: A combination of oral THP + CLZ proves to be more efficacious than using THP alone for the treatment of dystonic CP in children aged two to 14 years in terms of reducing the severity of dystonia., Competing Interests: Declaration of competing interest None., (Copyright © 2024 Elsevier Inc. All rights reserved.)

Dystonia, typically characterized by slow repetitive involuntary movements, stiff abnormal postures, and hypertonia, is common among individuals with cerebral palsy (CP). Dystonia can interfere with activities and have considerable impact on motor function, pain/comfort, and ease of caregiving. Although pharmacological and neurosurgical approaches are used clinically in individuals with CP and dystonia that is causing interference, evidence to support these options is limited. This clinical practice guideline update comprises 10 evidence-based recommendations on the use of pharmacological and neurosurgical interventions for individuals with CP and dystonia causing interference, developed by an international expert panel following the Grading of Recommendations, Assessment, Development and Evaluations (GRADE) approach. The recommendations are intended to help inform clinicians in their use of these management options for individuals with CP and dystonia, and to guide a shared decision-making process in selecting a management approach that is aligned with the individual's and the family's values and preferences., (© 2024 The Authors. Developmental Medicine & Child Neurology published by John Wiley & Sons Ltd on behalf of Mac Keith Press.)

Our objective was to provide expert consensus on best practices for anatomy teaching and training on ultrasound-guided botulinum neurotoxin type A (BoNT-A) injection for specialists involved in treating spasticity and dystonia. Nine experts (three neurologists; six physical medicine and rehabilitation physicians) participated in a three-round modified Delphi process. Over three rounds, experts reached consensus on 15 of 16 statements describing best practices for anatomy and BoNT-A injection training. They unanimously agreed that knowledge of the target audience, including their needs and current competency, is crucial when designing training programs. Experts also agreed that alignment between instructors is essential to ensure consistency of approach over time and between regions, and that training programs should be simple, adaptable, and "hands-on" to enhance engagement and learning. Consensus was also reached for several other key areas of training program development. The best-practice principles identified by expert consensus could aid in the development of effective, standardized programs for anatomy teaching and BoNT-A injection training for the purposes of treating spasticity and dystonia. This will enhance the exchange of knowledge, skills, and educational approaches between global experts, allowing more specialists to treat important movement disorders and ultimately improving patient outcomes.

Laryngeal dystonia is a potentially disabling task specific dystonia primarily affecting speech. The evaluation and diagnosis of laryngeal dystonia remain challenging, and often require a multi-disciplinary approach, involving collaboration among speech language pathologists, neurologists and laryngologists (1-5). It is crucial to correctly differentiate between the types of laryngeal dystonia due to the distinct therapeutic approaches and responses to botulinum toxin therapy or speech therapy. For educational purposes, we have divided laryngeal dystonia into two main types: adductor and abductor dystonia. In this article, we describe a series of examination techniques that can assist movement disorders neurologists diagnosing this condition, and appropriately differentiating the most common forms of laryngeal dystonia., (© 2024 International Parkinson and Movement Disorder Society.)

Dystonia is a movement disorder in which sustained muscle contractions give rise to abnormal postures or involuntary movements. It is a disabling and disfiguring disorder that affects activities of daily living and gives people a bizarre appearance often associated with psychological morbidity, embarrassment and social avoidance. Intramuscular injection of botulinum toxin (BoNT) is the most effective treatment for motor symptoms in focal dystonia, but little is known about its impact on the psycho-social dimension. The main aim of this study was to evaluate psycho-social changes in patients with focal dystonia after starting BoNT treatment using self-reported scales. The Beck Depression Inventory (BDI-II), the 36-Item Short Form Health Survey (SF-36), the Body Uneasiness Test (BUT), the State-Trait Anxiety Inventory (STAI) and the Visual Analogue Scale (VAS) assessing body self-image, satisfaction with physical aspects, social avoidance, self-reported depression, and self-distress were completed by 11 patients with dystonia and 9 patients with hyperhidrosis as a control group before BoNT (T0). VAS was then performed after four weeks (T1) to assess whether BoNT induced changes in the psychosocial dimension. Our results showed that only depressive symptoms and rumination about body defects improved in patients with dystonia after BoNT treatment, while improvement in self-distress and satisfaction with physical aspects was also found in hyperhidrosis. Individuals with hyperhidrosis experience poorer psychological well-being and suffer from higher levels of distress compared to dystonic patients. This suggests that individuals with this disabling condition are more vulnerable to social impact than dystonic patients., (© 2024. The Author(s).)

The association between dystonia and early-onset epileptic encephalopathy (EOEE) may have a genetic basis. Phosphatidylinositol glycan biosynthesis class A protein (PIGA) germline mutations have been described in the last decade and associated with refractory EOEEs. Dysmorphisms and visceral abnormalities have also been reported. Here, we present the case of a now 8-month-old child who was evaluated for dystonia, visual impairment, and developmental delay at 2 months of age, followed by refractory focal seizures when he was 4 months old. The remaining examination was normal, besides an accelerated linear growth. His brain magnetic resonance and an extensive metabolic investigation failed to show any abnormalities. At 7 months of age, the exome sequencing found a hemizygous PIGA pathogenic variant-c.1352T > C (p.(Ile451Thr). Seizures improved after the association of carbamazepine with levetiracetam and the beginning of the ketogenic diet. To our knowledge, this is the first time the phenotype associated with this specific mutation is described. Our patient had the singularity of manifesting with remarkable dystonia, over 2 months before the onset of seizures. We also point to the utility of the gene sequencing approach in the diagnosis of patients with dystonia and EOEEs, since identification of the genetic cause may help in patient's management and families' empowerment., Competing Interests: None declared., (Thieme. All rights reserved.)

An 18-year-old man had episodes of severe generalised dystonia, from aged 7 months and becoming progressively more frequent. He also had gradually developed interictal limb dystonia. He was initially diagnosed with paroxysmal kinesigenic dyskinesia but he did not improve with several medications. A levodopa trial led to levodopa-induced dyskinetic movements. However, a lower titration of 25 mg of levodopa two times per day substantially improved his motor features and quality of life. Laboratory investigations and MR scans of the brain were unremarkable. Whole-exome sequencing identified a pathogenic variant in the ATP1A3 gene. The ATP1A3 -spectrum disorders include non-classical phenotypes such as paroxysmal dystonic attacks. A response to dopamine response is unusual in these disorders. This case highlights the importance of levodopa trials in early-onset dystonia cases., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

Background: Variants in the TUBB4A gene are associated with dystonia (DYT-TUBB4A), Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum (H-ABC) and spastic paraplegia. Phenotypes intermediate to these three broad phenotypes are also observed. These are rare disorders, and data from diverse populations remains limited. We report seven Indian cases with dystonia phenotype related to TUBB4A mutation., Cases: Among these seven patients, age at onset ranged from 5 to 48 years. Five patients had cranio-cervical onset of dystonia. One patient had prominent parkinsonism with dystonia. Patients responded well to botulinum toxin injected for laryngeal, cervical and jaw dystonia. The patient with parkinsonism responded well to levodopa, albeit with development of dyskinesias. Apart from the common p.Arg2Gly variant in three patients with DYT-TUBB4A, other variants included p.Arg262Pro, p.Arg39Cys and p.Asp245Asn., Conclusions: We report the first collection of cases with TUBB4A mutation from India. We expand the phenotype to include levodopa-responsive parkinsonism. Indian patients, consistent with global literature, harbor prominent adductor dysphonia, cervical and jaw dystonia, which responds well to botulinum treatment., Competing Interests: Declaration of competing interest The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: Dr. Pal has received research grants from the Indian Council of Medical Research (ICMR), Department of Biotechnology (DBT) and Michael J. Fox Foundation and honoraria from the International Parkinson and Movement Disorder Society, and Movement Disorder Societies of Korea, Taiwan and Bangladesh., (Copyright © 2024 Elsevier Ltd. All rights reserved.)

Botulinum toxin (BT), a first-line treatment for focal dystonias in adults, has gained USA Food and Drug Administration approval for pediatric upper and lower extremity spasticity and sialorrhea, though its use in children younger than 2 years old is still considered off-label treatment for all pathologies. Dosing, treatment strategies and outcome measures lack international consensus, and they are often extrapolated from adult or spasticity guidelines. This review aims to evaluate the best available evidence on the efficacy and safety of BT therapy in pediatric dystonia (age under 21 years old), isolated or associated with other medical conditions. A comprehensive search in PubMed, Scopus and Web of Science was conducted, including only articles in English. Although no randomized controlled trials are still present, 12 articles were included with an overall of 57 patients. All the papers demonstrate that BT can improve motor function, decrease pain and ameliorate quality of life, with minimal adverse effects in pediatric patients affected by pure or mixed dystonic motor disorders. Despite the low level of evidence, our review shows that BT could be an efficacious treatment for these pediatric patients. The frequent generalized involvement, together with the heterogeneous nature of childhood dystonic forms, sometimes intermingled with spasticity, prompts further multicenter clinical trials or prospective studies with a higher level of evidence to shed light on the efficacy and safety profile of BT in pediatric dystonia.

Introduction: Dystonia can present in primary and secondary forms, depending on co-occurring symptoms and syndromic associations. In contrast to primary dystonia, secondary forms of dystonia are often associated with lesions in the putamen or globus pallidus. Such disorders are commonly neurodegenerative or neurometabolic conditions which produce varied neurologic as well as systemic manifestations other than dystonia. Chemo-denervation with botulinum toxin has been successfully used for focal or segmental dystonia. However, studies evaluating the effect of BoNT therapy on patients with secondary dystonia are sparse, given the heterogeneity in etiology and presentation., Methods: We present a series of patients with secondary dystonia who were managed with botulinum toxin therapy. Patients included in this series had a confirmed neurometabolic cause of dystonia., Results: A total of 14 patients, with ages ranging from 17 to 36 years, with disorders including Wilson's disease, pantothenate kinase-associated neurodegeneration (PKAN), Niemann-Pick disease type C (NPC), glutaric aciduria type 1, Sanfilippo syndrome (Mucopolysaccharidosis Type IIIb), and GM2 gangliosidosis (Sandhoff disease) are presented. Most patients experienced a mild to moderate improvement in treated dystonia with benefits ranging from 6 to 12 weeks, with the median length of the benefits lasting approximately eight weeks, without any significant adverse effects., Conclusion: Although the secondary causes of dystonia are complex and diverse, our presented data and the available reports of the use of botulinum toxin support the conclusion that chemo-denervation plays an important role in symptom alleviation.

Deep Brain Stimulation (DBS) is a recognized treatment for different dystonia subtypes and has been approved by the Food and Drug Administration (FDA) since 2003. The European Federation of Neurological Societies (EFNS) and the International Parkinson and Movement Disorders Society (MDS) recommend DBS for dystonia after failure of botulinum toxin (BoNT) and other oral medications for dystonia treatment. In addition, several long-term studies have demonstrated the continuous efficacy of DBS on motor and quality of life (QoL) scores. However, there are only a few reports comparing the overall impact of surgical treatment in BoNT protocols (e.g., dosage and number of selected muscles before and after surgery). This retrospective multicenter chart-review study analyzed botulinum toxin total dosage and dosage per muscle in 23 dystonic patients before and after DBS surgery. The study's primary outcome was to analyze whether there was a reduction in BoNT dosage after DBS surgery. The mean BoNT dosages difference between baseline and post-surgery was 293.4 units for 6 months, 292.6 units for 12 months, and 295.2 units at the last visit. The median total dose of BoNT in the preoperative period was 800 units (N = 23). At the last visit, the median was 700 units ( p = 0.05). This represents a 12.5% reduction in BoNT median dosage. In conclusion, despite the limitations of this retrospective study, there was a significant reduction in BoNT doses after DBS surgery in patients with generalized dystonia.

Pyruvate Dehydrogenase (PDH) E2 deficiency due to Dihydrolipoamide acetyltransferase (DLAT) mutations is a very rare condition with only nine reported cases to date. We describe a 15-year-old girl with mild intellectual disability, paroxysmal dystonia and bilateral basal ganglia signal abnormalities on brain magnetic resonance imaging (MRI). Additionally, neurophysiological, imaging, metabolic and exome sequencing studies were performed. Routine metabolite testing, and GLUT1 and PRRT2 mutation analysis were negative. A repeat brain MRI revealed 'Eye-of-the-tiger-sign'. Exome sequencing identified homozygous valine to glycine alteration at amino acid position 157 in the DLAT gene. Bioinformatic and family analyses indicated that the alteration was likely pathogenic. Patient's dystonia was responsive to low-dose carbamazepine. On weaning carbamazepine, patient developed hallucinations which resolved after carbamazepine was restarted. PDH E2 deficiency due to DLAT mutation has a more benign course compared to common forms of PDH E1 deficiency due to X-linked PDHA1 mutations. All known cases of PDH E2 deficiency due to DLAT mutations share the features of episodic dystonia and intellectual disability. Our patient's dystonia and hallucinations responded well to low-dose carbamazepine.

Introduction: Cranial dystonias (CrD) are challenging to treat. Oral pharmacotherapy is often sub-optimal, while delicate anatomy and limited availability of skilled botulinum toxin injectors makes this approach risky, and often difficult to access; neurosurgical options e.g. deep brain stimulation, are high-risk in the elderly populations most affected. We observed significant improvement in CrD in 2 patients prescribed Zolpidem+Melatonin combination treatment for insomnia, and therefore trialled this treatment in a further 4 patients with CrD., Methods: Six patients were treated with Zolpidem+Melatonin. Pre- and post-treatment videotaped clinical examinations were blindly rated by an independent assessor (EM) and scored using the 'Facial and Oral Movements' section of the abnormal involuntary movements scale (AIMS), as well as the Jankovic rating scale for blepharospasm., Results: Dystonic features, as measured by the abnormal involuntary movements scale (AIMS) improved by an average of 75% after treatment (6.5±3.1 before treatment to 1.7 +/- 0.8 after treatment). Improvements were also observed in blepharospasm severity scores, and in cervical dystonic features., Conclusion: Zolpidem+Melatonin combination treatment represents a safe and effective treatment for CrD. Low cost and wide availability makes it an attractive option, particularly in resource-constrained healthcare settings, or in patients who have failed, or lack access to alternatives., Competing Interests: Declaration of competing interest none., (Copyright © 2024. Published by Elsevier B.V.)

Introduction: Dystonia is a painful OFF-related complication in Parkinson's disease (PD) with limited treatment options., Methods: Post-hoc analysis using pooled data from two extended-release amantadine pivotal trials and follow-on open-label extension. Dystonia was assessed using the Unified Dyskinesia Rating Scale (UDysRS) Part 2 and the Movement Disorder Society-Unified PD Rating Scale (MDS-UPDRS) item 4.6., Results: Of 196 participants, 119 (60.7%) reported OFF-related dystonia at baseline per UDysRS. Twelve-week treatment with extended-release amantadine improved OFF dystonia (treatment differences vs placebo: UDysRS Part 2, -1.0 [-1.9,-0.1]; p = 0.03 and MDS-UPDRS Item 4.6, -0.3 [-0.6,-0.05]; p = 0.02). There was no correlation between changes in OFF time and changes in OFF dystonia. Double-blind improvements in OFF dystonia were sustained throughout the 2-year follow-up., Conclusions: Extended-release amantadine yielded a sustained reduction in OFF-related dystonia in PD patients that was independent from a reduction in OFF time. A randomized controlled trial is warranted to confirm these findings., Competing Interests: Declaration of competing interest The authors declare the following financial interests/personal relationships which may be considered as potential competing interests:Alberto J. Espay has received grant support from the NIH and the Michael J Fox Foundation; personal compensation as a consultant/scientific advisory board member for Neuroderm, Neurocrine, Amneal, Acadia, Acorda, Bexion, Kyowa Kirin, Sunovion, Supernus (formerly, USWorldMeds), Avion Pharmaceuticals, and Herantis Pharma; personal compensation as honoraria for speakership for Avion; and publishing royalties from Lippincott Williams & Wilkins, Cambridge University Press, and Springer. He cofounded REGAIN Therapeutics (a biotech start-up developing nonaggregating peptide analogues as replacement therapies for neurodegenerative diseases) and is co-owner of a patent that covers synthetic soluble nonaggregating peptide analogues as replacement treatments in proteinopathies. Jill Ostrem reports grant support from the NIH, Parkinson Foundation, Biogen, Medtronic, Boston Scientific, Neuroderm, Rune; personal compensation as a consultant for Abbott, Acorda, Supernus, and Jazz Pharmaceuticals. Andrea E. Formella is employed by Supernus Pharmaceuticals Inc. Caroline Tanner reports grant support from the NIH, the Michael J Fox Foundation, the Department of Defense, the Parkinson Foundation, the Marcus Program in Precision Medicine, Gateway LLC, Roche-Genentech, Biogen, Bioelectron Technology Corporation; personal compensation as a consultant/scientific advisory board/data & safety monitoring board member for CNS Ratings, Cadent, Adamas, Biogen, Acorda, Amneal, Neurocrine, Kyowa Kirin, Jazz/Cavion and the Australian Parkinson's Mission., (Copyright © 2024 The Authors. Published by Elsevier Ltd.. All rights reserved.)

Background:  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., Objective:  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., Methods:  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., Results:  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., Conclusion:  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., Competing Interests: There is no conflict of interest to declare., (The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution 4.0 International License, permitting copying and reproduction so long as the original work is given appropriate credit (https://creativecommons.org/licenses/by/4.0/).)

Drug-induced movement disorders (DIMDs) are associated with use of dopamine receptor blocking agents (DRBAs), including antipsychotics. The most common forms are drug-induced parkinsonism (DIP), dystonia, akathisia, and tardive dyskinesia (TD). Although rare, neuroleptic malignant syndrome (NMS) is a potentially life-threatening consequence of DRBA exposure. Recommendations for anticholinergic use in patients with DIMDs were developed on the basis of a roundtable discussion with healthcare professionals with extensive expertise in DIMD management, along with a comprehensive literature review. The roundtable agreed that "extrapyramidal symptoms" is a non-specific term that encompasses a range of abnormal movements. As such, it contributes to a misconception that all DIMDs can be treated in the same way, potentially leading to the misuse and overprescribing of anticholinergics. DIMDs are neurobiologically and clinically distinct, with different treatment paradigms and varying levels of evidence for anticholinergic use. Whereas evidence indicates anticholinergics can be effective for DIP and dystonia, they are not recommended for TD, akathisia, or NMS; nor are they supported for preventing DIMDs except in individuals at high risk for acute dystonia. Anticholinergics may induce serious peripheral adverse effects (e.g., urinary retention) and central effects (e.g., impaired cognition), all of which can be highly concerning especially in older adults. Appropriate use of anticholinergics therefore requires careful consideration of the evidence for efficacy (e.g., supportive for DIP but not TD) and the risks for serious adverse events. If used, anticholinergic medications should be prescribed at the lowest effective dose and for limited periods of time. When discontinued, they should be tapered gradually., (© 2024. The Author(s).)

Dystonia represents a significant source of disability in children. Generalized dystonia, which involves multiple body regions, leads to impaired mobility and motor function, resulting in substantial challenges in daily activities. Surgical treatments are used when medical treatments fail. Intrathecal baclofen (ITB) or deep brain stimulations (DBS) are the most employed surgical therapies. When these options are not feasible or ineffective, some authors have explored the use of intraventricular baclofen (IVB). In this report, we present four cases of pediatric patients with generalized dystonia who underwent treatment with IVB, resulting in notable improvements. To further explore the potential of this treatment modality, we conducted a comprehensive literature review. The findings from our study provide a comprehensive overview that can guide palliative management in similar cases., (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Abductor laryngeal dystonia (ABLD) is a rare neurological voice disorder which results in sporadic opening of the vocal folds during speech. Etiology is unknown, and to date there is no identified effective behavioral treatment for it. It is hypothesized that LSVT LOUD®, which was developed to treat dysphonia secondary to Parkinson's disease, may have application to speakers with ABLD to improve outcomes beyond that with botulinum neurotoxin (BoNT) treatment alone. The participant received one injection of BoNT in each vocal fold 2 to 3 months prior to initiating intensive voice therapy via teletherapy. Objective measures of vocal loudness (dB sound pressure level), maximum phonation time, and high/low pitch frequency (Hz) were recorded in all treatment sessions and follow-up sessions. Over the course of treatment, the participant showed steady gains in phonation time, volume, pitch range, and vocal quality with a substantial reduction in aphonic voice breaks by the end of the treatment program. Perceptual symptoms of ABLD were nearly undetectable by the participant and the clinicians up to 12 months posttreatment, with no additional BoNT injections. The results suggest that LSVT LOUD® following BoNT was effective, with long-lasting improvement in vocal function, for this speaker with ABLD., Competing Interests: The authors declare that there are no relevant conflicts of interest at the time of publication., (The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/).)

Objectives: Laryngeal dystonia (LD) is characterized by irregular and involuntary task-specific spasms of the intrinsic laryngeal muscles. There is no curative treatment for it, however, laryngeal botulinum neurotoxin injections (BoNT-I) are considered the standard of care therapy. This study aims to characterize the population of LD patients and to assess the results of laryngeal BoNT-I., Methods: A Retrospective cohort study was conducted. Medical records were reviewed for all the patients with LD diagnosis seen in the Voice Unit of the Red de Salud UCChristus between January 2013 and October 2021. Biodemographic, clinical and treatment data were collected. Additionally, a telephonic survey was completed by the patients that underwent laryngeal BoNT-I, including self-reported voice outcomes and Voice Handicap Index 10 (VHI-10)., Results: Of the 34 patients with LD included in the study, 23 received a total of 93 laryngeal BoNT-I and 19 completed the telephone survey. The majority (97%) of the injections corresponded to patients with adductor LD and 3% to abductor LD. Patients received a median of 3 (1-17) injections, with a more frequent cricothyroid approach (94.4%), while the thyrohyoid approach accounted for 5.6% of cases. Most injections were bilateral (96.8%). A significant improvement in the vocal quality and effort was noted after the last injection and the overall BoNT-I treatment (P < 0.001). Similarly, the VHI-10 score improved from a median of 31 (7-40) to 2 (0-19) (P < 0.001) after the last injection. A post-treatment breathy voice was reported in 95% of patients, and dysphagia to liquids and solids in 68% and 21%, respectively., Conclusions: Laryngeal BoNT-I is an effective treatment for LD, achieving an improvement in self-reported vocal quality and VHI-10 scores, and a reduction of the self-reported vocal effort. Adverse effects are mild in the majority of cases, constituting a safe and effective therapy for these patients., Competing Interests: Declaration of Competing Interest The authors declared that there was no conflict of interest., (Copyright © 2023. Published by Elsevier B.V.)

Background: Foot dystonia occurs in patients with Parkinson's disease (PD) and leads to pain, malformation, and difficulty with walking. Botulinum toxin injections may be effective for foot dystonia, but the extent of improvement and effects on motor function are unclear., Methods: In this study, we performed botulinum toxin injections for foot dystonia in 25 patients with PD. At 3 weeks and 3 months post-infection, we assessed changes in plantar pressure distribution utilizing the Pressure Plate system; dystonia using the Modified Ashworth Spasm score; pain using the visual analog scale (VAS) score; and lower extremity function using the Calf-raise Senior (CRS) test, Timed Up and Go (TUG) test, and gait parameters (eg, stride length, step length)., Results: We found improved Modified Ashworth Spasm score (p < 0.01) and VAS score (p < 0.01) post-injection. CRS test score (3 weeks, p = 0.006; 3 months, p = 0.068), stride length (3 weeks, p = 0.012; 3 months, p = 0.715), and step length (3 weeks, p = 0.011; 3 months, p = 0.803) also improved. Plantar pressure distribution improved after botulinum toxin injection (metatarsal 1, 3 weeks, p = 0.031; 3 months, p = 0.144; metatarsal 2, 3 weeks, p = 0.049; 3 months, p = 0.065; metatarsal 3, 3 weeks, p = 0.002; 3 months, p = 0.017; metatarsal 4, 3 weeks, p = 0.017; 3 months, p = 0.144; medial heel, 3 weeks, p = 0.01; 3 months, p = 0.395; lateral heel, 3 weeks, p = 0.035; 3 months, p = 0.109)., Conclusion: Botulinum toxin injection for foot dystonia in patients with PD can reduce spasms and pain and normalize plantar pressure distribution, which improves balance and lower extremity function., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2023 Elsevier Ltd. All rights reserved.)

Objective: Paraneoplastic neurological syndromes (PNS) are rare disorders associated with various onconeuronal antibodies. Anti-Ri antibodies (ANNA-2) are typically found in patients with opsoclonus myoclonus syndrome (OMS) and ataxia., Case Report: We present an anti-Ri antibody-positive 77-year-old woman with subacute progressive bilateral cranial nerve VI palsy, gait disturbance and jaw dystonia. MRI of the brain showed hyperintense signals on T 2 bitemporal without contrast enhancement. Cerebrospinal fluid (CSF) examination exhibited mild pleocytosis of 13 cells/µl and positive oligoclonal bands. CSF was overall inconspicuous for a malignant or inflammatory etiology. Immunofluorescence analysis revealed anti-Ri antibodies in both serum and CSF. Subsequent diagnostic work up resulted in a newly diagnosed ductal carcinoma of the right breast. PNS in this case partially responded to the anti-tumor therapy., Conclusion: This case shows similarities with recently published anti-Ri syndromes, which might form a distinct triad within the anti-Ri spectrum., (© 2023. The Author(s).)

Background: Focal task-specific dystonia is a form of isolated focal dystonia that occurs during the performance of a specific skilled motor task. The occurrence of oromandibular dystonia (OMD) specifically in association with the recitation of Quranic verses have been rarely reported in the literature, in non-native Arabic-speaking patients. This case series describe a rare type of focal task-specific dystonia that occurs exclusively by reciting Quran in native Arabic-speaking patients, which has never been reported, to the best of our knowledge., Methods: In this case series, we identified five patients with new-onset OMD that was exclusively induced by reciting Quran. Cases were evaluated in our Movement Disorders outpatient clinic at Ibn Sina hospital; the main tertiary neurology center in Kuwait, between 2015 and 2023., Results: Five cases (3 males, 2 females) were identified in this study. Mean age of onset of the symptoms was 52.3 ± 4.1 years, while the median duration of the symptoms prior to diagnosis was 3 years. All patients were native Arab-speaking, with no previous history of other types of dystonia. No identifiable risk factors could be obtained including exposure to dopamine blocking agents or antipsychotics, or history of oral or dental surgery. Patients underwent a full clinical, laboratory, and radiological evaluation. All patients had OMD dystonia in varying forms and severity, while two patients had additional spasmodic dysphonia/ blepharospasm on progressive recitation. Most patients had minimal improvement with combination of oral medications and speech therapy. Four patients received botulinum toxin injections with better results., Discussion: The mental and physical stress in attempting to recite the Quranic verses could have contributed to the development of OMD. Moreover, the increased demand on the muscles of the jaw, lips, and tongue during recitation can trigger the dystonic symptoms., Highlights: OMD exclusively during Quran recitation is a rare phenomenon, and expands the spectrum of task-specific focal dystonia described in the literature. It was found to be distressing to the patients and a challenge to treat. Prompt recognition could minimize unnecessary testing and procedures, and facilitate earlier treatment., Competing Interests: The authors have no competing interests to declare., (Copyright: © 2024 The Author(s).)

Dystonia is a network disorder involving multiple brain regions, such as the motor cortex, sensory cortex, basal ganglia, and cerebellum. Botulinum toxin (BoNT) is the first-line therapy for treating focal dystonia and is a potent molecule that blocks the release of acetylcholine at the peripheral neuromuscular junction. However, the clinical benefits of BoNT are not solely related to peripheral muscle relaxation or modulation of afferent input from the muscle spindle. An increasing body of evidence, albeit in smaller cohorts, has shown that BoNT leads to distant modulation of the pathological brain substrates implicated in dystonia. A single treatment session of BoNT has been observed to reduce excessive motor excitability and improve sensory processing. Furthermore, owing to plasticity effects that are induced by botulinum, neural reorganization of pathological networks occurs, presumably leading to defective motor programs of dystonia replaced with normal movement patterns. However, longitudinal studies investigating the effects of multiple treatment sessions in large, well-characterized homogenous cohorts of dystonia will provide further compelling evidence supporting central botulinum mechanisms., Competing Interests: Declaration of competing interest The author has no competing interests to declare. AWS reports grant support from the NIHR01NS122943 as PI and Ro1 NS121120-01 as a Co-I. She reports past funding from Benign Essential Blepharospasm Research foundation, Dystonia coalition, Dystonia Medical Research foundation, National Organization for Rare Disorders. AWS has received consultant fees from Merz, Sage, and Acadia. She is the current Vice President for the Tremor Research Group and recent advisor for Supernus and Biogen-Sage., (Copyright © 2023. Published by Elsevier Ltd.)

This report describes a 15-year-old female with known spastic and dystonic quadriplegic cerebral palsy (CP), Gross Motor Function Classification System IV, and obstructive sleep apnea (OSA). She experienced decreased apneic episodes after receiving onabotulinumtoxin A (BoNT-A) injections for the treatment of oromandibular dystonia (OMD). After her OSA diagnosis, she initially received injections to the bilateral masseter and temporalis muscles with no effect on the frequency of nightly apneic episodes. Subsequently, the bilateral lateral pterygoid muscles were added and she was later noted to have fewer apneic episodes overnight. This case report describes the use of BoNT-A in the muscles of mastication for management of OMD and the ensuing improvement in OSA in a teenager with CP.

We present a case of a 12-year-old female with a history of infantile spasms who developed a propofol-associated acute dystonic reaction after emergence from general anesthesia for foot surgery. Uniquely, the patient's postoperative symptoms of an acute dystonic reaction were refractory to standard treatment with anticholinergics but were successfully treated with corticosteroids. The absence of any dystonic symptoms following subsequent foot surgery under general anesthesia without propofol supported a propofol-associated etiology. This case may contribute to a better understanding of the underlying mechanisms of propofol-associated acute dystonic reactions and adds a possible new treatment option., Competing Interests: The authors declare no conflicts of interest., (Copyright © 2023 International Anesthesia Research Society.)

Objective: Intrathecal baclofen (ITB) is an effective treatment for refractory hypertonia in children. ITB has long been effective for the treatment of spasticity, and indications have naturally evolved to include dystonia and mixed pediatric movement disorders (PMDs). The established uses for ITB trials are insurance prerequisite, mixed tone, and family request. Despite agreement for ITB therapy by a multidisciplinary group of subspecialists in a complex PMD program, insurance companies often require an ITB trial be performed. A longitudinal cohort was identified to determine the safety and efficacy of ITB trials and to determine the utility of test dosing in this population., Methods: Retrospective data analysis was performed for patients with hypertonia who underwent ITB bolus trials at the authors' institution between 2021 and 2023. Nonmodifiable risk factors and clinical variables were collected., Results: Thirty-one patients (11 female) underwent 32 ITB trials. Of these patients, 67.7% had a diagnosis of mixed hypertonia, 32.3% pure spasticity, and 9.1% secondary dystonia. The mean age at test dose was 12.8 years, and 58.1% of patients were born premature. The mode Gross Motor Function Classification System score was 5. The mean difference in Barry-Albright Dystonia Scale (BADS) scores was -7.33 points (p = 0.01) at 2.5 hours postoperatively. The mean difference in upper-extremity modified Ashworth Scale (mAS) scores was -5.36 points (p = 0.003), and that for lower-extremity mAS scores was -6.61 (p < 0.001). In total, 21.9% of patients developed a post-dural puncture headache. Conversion to a permanent baclofen pump was performed in 22/32 (68.8%) patients. Of those who did not pursue pump placement, 1 patient had high surgical risk, 1 had an ineffective response, 1 had a bad reaction to the test dose and cited both regression and increased discomfort, and 2 declined despite an effective trial owing to family preferences., Conclusions: ITB trials require hospitalization in some form and carry risks of procedural complications. The decision to pursue a trial should be made on a case-by-case basis by clinicians and should not be determined by insurance companies. The complication rate of ITB trials is high, and a test dose is unnecessary in this fragile population.

Background: We know that syndromic conditions and severe chronic diseases can be associated with symptoms that may interfere with sleep, significantly impacting the life quality of children and caregivers. Drugs commonly used in treating insomnia, such as melatonin, benzodiazepines, niaprazine, and antihistamines, are often either ineffective or associated with adverse effects, requiring new therapeutic perspectives. Dexmedetomidine is a selective alpha-2 agonist with hypnotic and anxiolytic effects, which, by stimulating alpha-2 adrenergic receptors in the locus coeruleus, induces sleep comparable to stages 2-3 of the non-REM phase without substantially affecting the respiratory drive during sedation. Its use has already been extensively described in pediatric intensive care or procedural sedation literature. In 2018, the Italian Medicines Agency (Agenzia Italiana Del Farmaco AIFA) authorized the off-label use of dexmedetomidine outside of intensive care in Children undergoing palliative treatment to control distressing symptoms related to pathology and refractory sleep disorders, and the literature reported cases of children who received dexmedetomidine at home., Objective: Our study aims to describe the home use of dexmedetomidine in children with insomnia or intractable dystonic states., Measures: We conducted a retrospective analysis through a questionnaire addressed to 12 Italian pediatric palliative care centers regarding the home use of dexmedetomidine in sleep disorders and intractable dystonic states., Intervention: We collected a case series of 9 children treated with dexmedetomidine at home, 8 via intranasal and 1 via intravenous route. All children received the first drug administration in the hospital or hospice during a dedicated admission, under close monitoring of vital signs parameters for 72 hours (3 days, range 2-7 days). After discharge, the potential side effects of the drug were explained to the patient's families, and, once informed consent was obtained, the home administration of dexmedetomidine continued, with follow-up by the palliative care team. At home, dexmedetomidine was administered for 3000 days (minimum 1 month, maximum 36 months). The first patient was treated for 1095 days, from 2019 to 2021 (discontinued due to underlying condition-related death)., Outcomes: All patients observed a persistent benefit from the treatment on symptoms, and none of them discontinued dexmedetomidine administration due to drug-related adverse effects or perceived lack of therapeutic efficacy., Conclusions: Therefore, its use at home may represent a promising therapeutic approach for intractable sleep disorders or dystonic states in pediatric palliative care children. Further studies are needed to confirm our results., (Copyright © 2023 American Academy of Hospice and Palliative Medicine. Published by Elsevier Inc. All rights reserved.)

Paroxysmal autonomic instability with dystonia syndrome (PAIDS) is a rare and life-threatening complication of neurologic diseases. We report the case of a 20-year-old male with acute severe brain damage from tuberculous meningitis, who eventually developed paroxysmal episodes of spontaneous and inducible tachycardia, tachypnea, hypertension, and decerebrate posturing. We diagnosed the patient as suffering from paroxysmal autonomic instability with dystonia syndrome. The unavailability of morphine and the prohibitive cost of prolonged fentanyl use led to a trial of gabapentin, clonazepam, and propranolol for the patient, resulting in symptom resolution. Brain injury causes dysfunction of autonomic centers leading to paroxysmal autonomic instability with dystonia syndrome. Management includes minimizing stimulation and pharmacotherapy with preventive and abortive medications. Alternatives like gabapentin, propranolol and clonazepam were effective in treating the paroxysmal episodes, proving that they may have a role in resource limited settings. PAIDS requires urgent recognition and treatment to prevent further complications and death., Competing Interests: No competing interests were disclosed., (Copyright: © 2023 Dichoso LP et al.)

Recent focus on improving the recognition of dystonia in cerebral palsy (DCP) has highlighted the need for more effective treatments. Evidence supports improved functional outcomes with early interventions for patients with cerebral palsy, but it is not known which interventions are most effective for DCP. Current pharmacologic recommendations for DCP are based largely on anecdotal evidence, with medications demonstrating minimal to moderate improvements in dystonia and variable efficacy between patients. Patients, families, and clinicians have identified the need for new and improved treatments in DCP, naming this as the top research theme in a recent Neurology ® publication. Precision therapeutics focuses on providing early effective interventions that are individualized to every patient and can guide research priorities to improve treatments for DCP. This commentary outlines current obstacles to improving treatment of DCP and addresses how precision therapeutics can address each of these obstacles through 4 key components: (1) identification of predictive biomarkers to select patients likely to develop DCP in the future and for whom early intervention may be appropriate to delay or prevent full manifestation of dystonia, (2) stratification of patients with DCP into subgroups according to shared features (clinical, functional, biochemical, etc) to provide a targeted intervention based on those shared features, (3) administration of an individualized dose of an effective intervention to ensure adequate concentrations of the therapeutic entity at the site of action, and (4) monitoring of objective biomarkers of response to intervention. With implementation of each of these components of precision therapeutics, new and more effective treatments for every person with DCP can be realized., (© 2023 American Academy of Neurology.)

This postmarketing surveillance study was conducted to evaluate the safety and effectiveness of onabotulinumtoxinA in Japanese patients with laryngeal dystonia (LD). Patients receiving onabotulinumtoxinA for the first time were enrolled and observed for up to 12 months following the first injection. Safety assessment included adverse drug reactions (ADRs), and effectiveness assessments included the Voice Handicap Index-10 (VHI-10) and physician's global assessment (PGA). ADRs were observed in 48 (5.8%) of 834 patients in the safety analysis set, including dysphonia in 43 (5.2%) patients and dysphagia in 7 (0.8%) patients. The change in total VHI-10 score (mean) in 790 patients included in the effectiveness analysis set showed that improvement in adductor LD peaked at 2 months after the first injection, while patients with abductor or mixed LD showed a gradual attenuation of effect 2-4 weeks post-injection. The change in total VHI-10 score in subsequent injections was generally similar to that following the first injection. The overall effectiveness rate according to the PGA was 93.4% (738/790 patients). The results demonstrate that onabotulinumtoxinA is a well-tolerated and effective treatment for LD in real-world clinical practice.

Objective: To compare the efficacy of gabapentin as add-on therapy to trihexyphenidyl in the treatment of children with dyskinetic cerebral palsy (CP)., Methods: An open-labelled, randomized, controlled trial was conducted among children aged 3-9 y with dyskinetic CP [Gross Motor Functional Classification System (GMFCS) 4-5]. Participants were assigned into two groups: gabapentin with trihexyphenidyl (n = 30) and trihexyphenidyl alone (n = 30). Dyskinesia Impairment Scale (DIS), Dystonia Severity Assessment Plan (DSAP), and International Classification of Functioning, Disability, and Health-Children and Youth Version (ICF-CY) were measured at baseline, 4 and 12 wk., Results: There was significant reduction in baseline dystonia in both the groups (DIS: p < 0.001; DSAP: p = 0.007; ICF-CY: p < 0.001) but when data were compared between the groups, there was no significant difference in the severity of dystonia at 4 wk and at 12 wk (DIS: p = 0.09; DSAP: p = 0.49; ICF-CY: p = 0.25). Constipation was the commonest side effect observed in both the groups [3 (11.5%) vs. 4 (14.3%)]., Conclusion: Trihexyphenidyl alone is as effective as combination of gabapentin with trihexyphenidyl in decreasing the severity of dystonia at 12 wk. Hence, there is no added benefit of gabapentin as add-on therapy for dystonia among children with dyskinetic CP., Trial Registration: CTRI/2019/04/018603., (© 2022. The Author(s), under exclusive licence to Dr. K C Chaudhuri Foundation.)

Laryngeal dystonia is a task-specific movement disorder causing abnormal movement of the adductor or abductor muscles of the vocal folds. In 1984, Blitzer pioneered the first use of onabotulinum toxin A to treat this disorder. Over 1400 patients were diagnosed with laryngeal dystonia in the last thirty years. In this paper, we summarize their clinical and endoscopic findings as well as treatment results. We also summarize the underlying genetics of the disorder. 82% of patients were diagnosed with adductor type laryngeal dystonia and 17% of patients manifested an abductor laryngeal dystonia. Patients with adductor dystonia were treated with toxin to the thyroarytenoid muscles and those with abductor dystonia were treated with toxin to the posterior cricoarytenoid muscle. All patient achieved greater than 70% improvement in percent normal function. Laryngeal dystonia is a rare movement disorder of the larynx with an incidence of approximately 35.1 per 100,000 individuals (Simonyan et al., 2021). Presently, there is no cure for laryngeal dystonia, but botulinum toxin has shown significant success in treating the symptoms of the disorder., Competing Interests: Declaration of competing interest The authors declare the following financial interests/personal relationships which may be considered as potential competing interests. Dr. Blitzer has an unrestricted research grant from Allergan and has conducted research for Merz Pharmaceuticals. Dr. Kohli has no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2023 Elsevier Ltd. All rights reserved.)

Elevated tone (hypertonia) is a common problem in children with physical disabilities. Medications intended to reduce tone often have limited efficacy, with use further limited by a significant side effect profile. Consequently, there has been growing interest in the application of Neurosurgical Interventions for the Management of Posture and Tone (NIMPTs). Three main procedures are now commonly used: selective dorsal rhizotomy (SDR), intrathecal baclofen (ITB) and deep brain stimulation (DBS). This review compares these interventions, along with discussion on the potential role of lesioning surgery. These interventions variably target spasticity and dystonia, acting at different points in the distributed motor network. SDR, an intervention for reducing spasticity, is most widely used in carefully selected ambulant children with cerebral palsy. ITB is more commonly used for children with more severe disability, typically non-ambulant, and can improve both dystonia and spasticity. DBS is an intervention which may improve dystonia. In children with certain forms of genetic dystonia DBS may dramatically improve dystonia. For other causes of dystonia, and in particular dystonia due to acquired brain injury, improvements following surgery are more modest and variable. These three interventions vary in terms of their side-effect profile and reversibility. There are currently populations of children for who it is unclear which intervention should be considered (SDR vs ITB, or ITB vs DBS). Concerns have been raised as to the equity of access to NIMPTs for children across the UK, and whether the number of surgeries performed each year meets the clinical need., Competing Interests: Competing interests: DEL has received unrestricted educational grants from Medtronic to support attendance at scientific conferences., (© Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ.)

Patients with chronic psychosis on prolonged antipsychotic therapy may present with paroxysmal dystonia along with an exacerbation of their psychotic symptoms: paroxysmal dystonia and psychotic exacerbations (PDPE). The interindividual variability in the clinical presentations of PDPE can pose challenges in its diagnosis and treatment. The objectives of this work are to (i) discuss this rare phenomenon through a series of 10 patients and a relevant literature review, (ii) conceptualize its neurobiological underpinnings, and (iii) explore the preliminary treatment approaches for its management. Acute stress and/or a dysfunctional gamma-aminobutyric acid (GABA) ergic or dopaminergic system may be implicated in the pathogenesis of PDPE. The episodes respond acutely to parenteral benzodiazepines, while long-term management can be achieved by reducing antipsychotic doses, switching to clozapine or using central GABA enhancers. This article is the first attempt at conceptualizing and exploring treatment options for the rare condition PDPE and intends to guide future research in this regard., (© 2023 British Pharmacological Society.)

Botulinum toxin type A is a widely used neurotoxin for the treatment of muscle hyperactivity such as dystonia and spasticity. Several clinical trials have also reported an efficacy of subcutaneous or intradermal administrations of botulinum toxin A on various neuropathic pain conditions including idiopathic trigeminal neuralgia and found that specific sensory phenotypes were predictors of the response. This narrative review summarizes the potential mechanisms of action, efficacy and safety of botulinum toxin A in neuropathic pain as well as its place in the therapeutic algorithm of neuropathic pain., Competing Interests: Declaration of competing interest The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: Pr Nadine ATTAL has received honoraria from Merz for scientific advice regarding the development of botulinum toxin A in neuropathic pain., (Copyright © 2023 Elsevier Ltd. All rights reserved.)

Purpose: To analyze using Pentacam ® , the corneal and anterior chamber changes following periocular botulinum toxin injection in patients with facial dystonia., Methods: Prospective study that included patients with facial dystonia that were going to receive a periocular botulinum toxin injection for the first time or six months or more after the previous injection. A Pentacam ® examination was carried out in all patients before and 4 weeks after the injection., Results: Thirty-one eyes were included. Twenty-two had a diagnosis of blepharospasm and nine of hemifacial spasm. Analysis of corneal and anterior chamber parameters revealed a significant decrease in iridocorneal angle after botulinum toxin injection (from 35 ± 10º to 33.8 ± 9.7º, p = 0.022). No other corneal or anterior chamber parameters changed significantly after the injection., Conclusions: Periocular botulinum toxin injection causes narrowing of the iridocorneal angle., (© 2023. The Author(s).)

Background: Myoclonus-dystonia (MD) is a syndrome characterized by subcortical myoclonus and milder dystonia. The main causative gene is the epsilon sarcoglycan gene (SGCE), but other genes may be involved. Response to medications is variable, with poor tolerability limiting their use., Case Presentation: We present the case of a patient with severe myoclonic jerks and mild dystonia since childhood. At first neurological visit at the age of 46 years old, she presented brief myoclonic jerks predominating in the upper limbs and neck, mild at rest and elicited by action, posture and tactile stimulus. Myoclonus was accompanied by mild neck and right arm dystonia. Neurophysiological tests suggested subcortical origin of myoclonus, brain MRI was unremarkable. Myoclonus-dystonia was diagnosed, and genetic testing identified a novel mutation in SGCE gene (c.907delC) in heterozygosis. Over time she assumed a large variety of anti-epileptics without beneficial effect on myoclonus and low tolerability. Add-on treatment with Perampanel was started, with a beneficial effect. No adverse events were reported. Perampanel is the first selective non-competitive AMPA receptor antagonist approved in add-on for focal and generalized tonic-clonic seizures. To our knowledge, this is the first trial of Perampanel in MD., Conclusions: We presented the case of a patient with MD due to SGCE mutation who was treated with Perampanel with beneficial effects. We propose Perampanel as a novel treatment for myoclonus in MD., (© 2023. Fondazione Società Italiana di Neurologia.)

Background: Patient education is an essential part of management of complex, disabling neurological disorders. Mobile web-based educational materials provide a novel and potentially valuable means to communicate clinical information that can aid in both medical management and rehabilitation., Aims: We, therefore, evaluated an educational tablet-based intervention in three patient cohorts regarding the following topics: Parkinson's disease (PD) medications, dystonia and botulinum toxin treatment., Methods: A total of 50 subjects with PD, 32 with dystonia and 61 receiving botulinum toxin treatment for movement disorders or sialorrhoea were enrolled. Participants in each cohort completed a specific educational module at the time of their regularly scheduled clinic visit, comprising slides, in addition to pre- and post-module quizzes and a satisfaction survey. Additionally, participants in the dystonia and botulinum toxin modules were given a follow-up test at their 3- or 6-month clinical treatment visit., Results: There were 143 participants with 50 completing the PD module, 32 completing the dystonia module and 61 completing the botulinum toxin module. All three groups demonstrated significant improvement in knowledge of module content between their pre- and post-module test scores (PD: p =.0001, dystonia: p <.0001 and botulinum toxin: p =.008), and those who took the dystonia module maintained significant improvement at either a 3- or 6-month follow up compared to pre-module ( p <.0001)., Conclusions: Tablet-based teaching modules are an effective means of communicating key concepts to patients. This study supports their use for improving patient understanding that can support lifelong approaches to managing disabling, neurological conditions.Implication for RehabilitationTablet-based modules are relatively easy to use for enhancing education during clinic visits and can possibly help reduce and maintain disability with chronic conditions like Parkinson's disease and dystonia.Improvements in post-test scores suggested that patient participants were able to retain information from the tablets about their complex and challenging conditions and treatments.Adding patients who are fluent in another language would have made this study more generalizable and future studies exploring educational interventions are warranted to help better tailor interventions to patients with chronic neurologic illnesses to help understand the complex aspects of their medical and rehabilitation therapy.The effect of cognitive changes in neurological conditions and understanding of educational information needs to be further tested.This positive result is especially meaningful during the COVID-19 pandemic when in-person access to both medical and rehabilitative care has been curtailed.

Importance: The gold-standard treatment for laryngeal dystonia (LD) and essential tremor of the vocal tract (ETVT) is botulinum toxin (BoNT) chemodenervation. Although safe and effective, it is not curative, and periodic injections are required. Some medical insurance companies only cover injections at a 3-month interval, though some patients benefit from injections more frequently., Objective: To determine the proportion and characteristics of patients who receive BoNT chemodenervation treatment in intervals shorter than 90 days., Design, Setting, and Participants: This retrospective cohort study across 3 quaternary care neurolaryngology specialty practices in Washington and California recruited patients who underwent at least 4 consecutive laryngeal BoNT injections for LD and/or ETVT in the past 5 years. Data were collected from March through June 2022 and analyzed from June through December 2022., Exposure: Laryngeal BoNT treatment., Main Outcomes and Measures: Biodemographic and clinical variables, injection characteristics, evolution during the 3 interinjection intervals, and lifetime laryngeal BoNT treatment data were collected from patient medical records. Logistic regression was used to assess association to the short-interval outcome, defined as an average injection interval shorter than 90 days., Results: Of 255 patients included from the 3 institutions, 189 (74.1%) were female, and the mean (SD) age was 62.7 (14.3) years. The predominant diagnosis was adductor LD (n = 199 [78.0%]), followed by adductor dystonic voice tremor (n = 26 [10.2%]) and ETVT (n = 13 [5.1%]). Seventy patients (27.5%) received short-interval injections (<90 days). The short-interval group was younger than the long-interval group (≥90 days), with a mean (SD) age of 58.6 (15.5) years and 64.2 (13.5) years, respectively, and a mean difference of -5.7 years (95% CI, -9.6 to -1.8 years). There were no patient-related differences between the short- and long-interval groups in terms of sex, employment status, or diagnosis., Conclusions and Relevance: This cohort study demonstrated that while insurance companies often mandate a 3-month or greater interval for BoNT chemodenervation financial coverage, there is a considerable subset of patients with LD and ETVT who receive short-interval treatment to optimize their vocal function. Short-interval chemodenervation injections demonstrate a similar adverse effect profile and do not appear to predispose to resistance through antibody formation.

Objective: To explore the clinical and genetic characteristics of children with dopa-responsive dystonia (DRD) caused by tyrosine hydroxylase (TH) gene variations. Methods: Clinical data of 9 children with DRD caused by TH gene variations diagnosed in the Department of Children Rehabilitation, the Third Affiliated Hospital of Zhengzhou University from January 2017 to August 2022 were retrospectively collected and analyzed, including the general conditions, clinical manifestations, laboratory tests, gene variations and follow-up data. Results: Of the 9 children with DRD caused by TH gene variations, 3 were males and 6 were females. The age at diagnosis was 12.0 (8.0, 15.0) months. The initial symptoms of the 8 severe patients were motor delay or degression. Clinical symptoms of the severe patients included motor delay (8 cases), truncal hypotonia (8 cases), limb muscle hypotonia (7 cases), hypokinesia (6 cases), decreased facial expression (4 cases), tremor (3 cases), limb dystonia (3 cases), diurnal fluctuation (2 cases), ptosis (2 cases), limb muscle hypertonia (1 case) and drooling (1 case). The initial symptom of the very severe patient was motor delay. Clinical symptoms of the very severe patient included motor delay, truncal hypotonia, oculogyric crises, status dystonicus, hypokinesia, decreased facial expression, and decreased sleep. Eleven TH gene variants were found, including 5 missense variants, 3 splice site variants, 2 nonsense variants, and 1 insertion variant, as well as 2 novel variants (c.941C>A (p.T314K), c.316&#95;317insCGT (p.F106delinsSF)). Nine patients were followed up for 40 (29, 43) months, and no one was lost to follow-up. Seven of the 8 severe patients were treated by levodopa and benserazide hydrochloride tablets and 1 severe patient was treated by levodopa tablets. All the severe patients responded well to levodopa and benserazide hydrochloride tablets or levodopa tablets. Although the weight of the patients increased and the drug dosage was not increased, the curative effect remained stable and there was no obvious adverse reaction. One severe patient developed dyskinesia in the early stage of treatment with levodopa and benserazide hydrochloride tablets and it disappeared after oral administration of benzhexol hydrochloride tablets. Until the last follow-up, motor development of 7 severe patients returned to normal and 1 severe patient still had motor delay due to receiving levodopa and benserazide hydrochloride tablets for only 2 months. The very severe patient was extremely sensitive to levodopa and benserazide hydrochloride tablets and no improvement was observed in this patient. Conclusions: Most of the DRD caused by TH gene variations are severe form. The clinical manifestations are varied and easily misdiagnosed. Patients of the severe patients responded well to levodopa and benserazide hydrochloride tablets or levodopa tablets, and it takes a long time before full effects of treatment become established. Long-term effect is stable without increasing the drug dosage, and no obvious side effect is observed.