Journal of Movement Disorders

Brief communication

Clinical, Radiological and Therapeutic Profile of Patients With DYT-TOR1A from a single tertiary care centre in India, with a literature review of the MDSGene Asian cohort: MK Farsana, Vikram V Holla, Debjyoti Dhar, Nishanth Gowda, Hansashree Padmanabha, Babylakshmi Muthusamy, Nitish Kamble, Dwarakanath Srinivas, Ravi Yadav, Pramod Kumar Pal; Received September 22, 2025 Accepted December 17, 2025 Published online December 17, 2025; DOI: https://doi.org/10.14802/jmd.25256 [Accepted]

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Abstract PDF: Objective
This study aims to characterize the phenotypic spectrum and therapeutic outcome of patients with DYT-TOR1A of Indian and Asian origin.
Methods
A retrospective chart review of patients with genetically confirmed DYT-TOR1A (c.907_909delGAG;p.Glu303del variant) from a tertiary care centre in India.
Results
12 patients (11 males, 91.7%) were recruited with a median age at onset of 10.5 years (8-17years) and duration of five years (2months - 31years). All had an isolated and progressive dystonia phenotype. Eight patients (66.7%) had onset in childhood, and limb-onset was noted in 10 (83.3%) patients. Five patients (41.7%) underwent bilateral GPi-DBS within a median duration of 4 years (2.5–6.5 years) from the onset with significant improvement.
Conclusion
This Indian patient cohort shows a strong male predominance and a consistent early involvement of the upper limbs. A shorter duration of illness with greater severity highlights the need for early recognition and potential surgical intervention.

Original Articles

Effective botulinum toxin treatment in different patterns of cervical dystonia: a retrospective SPECT and EMG study: Hongkai Gu, Yougui Pan, Lizhen Pan, Xiaolong Zhang, Ronghua Hong, Zhuang Wu, Chenghong Wang, Shuzhen Chen, Lingjing Jin, Fei Teng; Received July 15, 2025 Accepted November 19, 2025 Published online November 19, 2025; DOI: https://doi.org/10.14802/jmd.25186 [Accepted]

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Abstract PDF: Background
The Col-Cap classification for cervical dystonia (CD) is proposed to optimize treatment strategy with botulinum toxin type A (BTX-A). Although this concept has been used for 15 years, the efficacy of BTX-A in various CD patterns remains unclear. The present study compared the efficacy of BTX-A aided by single-photon emission computed tomography (SPECT) and electromyography (EMG) in various CD patterns.
Methods
CD patients who underwent SPECT scan to detect dystonic muscles were included. Candidate muscles were firstly selected by clinical evaluation and abnormal radioactivity on SPECT imaging. All patients were injected under the guidance of EMG and only those candidate muscles with positive EMG were injected. The efficacy of BTX-A was measured by subjective clinical improvement rate and the reduction rate of Tsui score at four weeks after injection.
Results
The study enrolled 252 patients. The subjective improvement rates were 63.5 ± 20.6% in simple types and 59.9 ± 22.2% in complex types, showing no significant difference (p = 0.247). The reduction rates of Tsui score showed no difference between the simple type (52.4 ± 24.2%) and the complex type either (49.6 ± 23.6%, p = 0.556). There were no significant differences in clinical improvement rates within each group of simple subtypes, complex subtypes, or patients with different types of tremors (p > 0.05).
Conclusion
Different CD patterns exhibited comparable efficacy of BTX-A due to appropriate selection of dystonic muscles aided by SPECT and EMG, indicating that by employing multifaceted approaches to identify dystonic muscles, favorable outcomes can be achieved even in complex cases.

Optimal Stimulation Sites and Long-Term Efficacy of Pallidal Deep-Brain Stimulation for Patients With Tardive Dystonia: Taku Nonaka, Shiro Horisawa, Kilsoo Kim, Masato Murakami, Masahiko Nishitani, Takakazu Kawamata, Takaomi Taira; J Mov Disord. 2026;19(1):49-57. Published online October 28, 2025; DOI: https://doi.org/10.14802/jmd.25164

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Abstract PDF: Objective
Globus pallidus internus deep brain stimulation (GPi-DBS) is an established treatment for dystonia, but its specific efficacy for tardive dystonia (TD) remains insufficiently documented. To evaluate the long-term clinical outcomes of GPi-DBS and to identify optimal stimulation sites in patients with medically refractory TD.
Methods
We retrospectively analyzed data from 26 patients with TD who underwent bilateral GPi-DBS. Clinical outcomes were assessed using the Burke–Fahn–Marsden Dystonia Rating Scale (BFMDRS). Optimal stimulation sites were identified using voxelwise sweet spot analysis.
Results
At an average follow-up time of 42 months (range 12–4 months), the mean BFMDRS score improvement was 81.5%. The optimal stimulation sites were located in the posteroventral region of the GPi. Two patients experienced sustained symptom remission after DBS cessation. Complications included device-related infection (n=2), dysarthria (n=4), and gait imbalance (n= 1); no severe permanent complications occurred.
Conclusion
GPi-DBS is effective and safe for patients with medically refractory TD, providing significant long-term symptom relief. The optimal stimulation sites were located in the posteroventral GPi, which is consistent with those reported for patients with other dystonia types.

Brief communications

The Role of Handedness and Extrainstrumental Burdens on the Course of Musicians’ Dystonia: Johanna Doll-Lee, Edoardo Passarotto, Eckart Altenmüller, André Lee; J Mov Disord. 2025;18(4):355-359. Published online June 15, 2025; DOI: https://doi.org/10.14802/jmd.25064

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Abstract PDF Supplementary Material

Objective
This study investigated the impact of extrainstrumental workload on musician’s dystonia (MD) and its relationship with playing ability by testing whether dystonia onset is more severe in the dominant hand and whether improvement during treatment depends on which hand is affected, the dominant or nondominant.
Methods
A total of 151 patients with dominant-hand MD and 92 with nondominant hand MD were assessed for their ability to play at dystonia onset (T0) and after treatment (T1).
Results
There was no significant difference in playing ability at onset between the groups. Significant improvement and a greater change in playing ability were observed in the dominant-hand group. We found no difference in the proportional frequency of right-handed and left-handed individuals in the group of patients affected on the right or left side, respectively.
Conclusion
These findings suggest that handedness does not influence MD localization, but the prognosis is more favorable for those with dominant hand dystonia, potentially due to metaplasticity effects.

Citations

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Aufgabenspezifische Dystonie und Tremor: Therapeutische Konzepte für neurologische Ausfälle bei Musikern
Johanna Doll-Lee, Till-Alexander Plinkert, André Lee
Deutsches Ärzteblatt Online.2025;[Epub] CrossRef

Efficacy and Safety of Zolpidem for Musician’s Dystonia: Shiro Horisawa, Kilsoo Kim, Masato Murakami, Masahiko Nishitani, Takakazu Kawamata, Takaomi Taira; J Mov Disord. 2024;17(4):425-429. Published online July 1, 2024; DOI: https://doi.org/10.14802/jmd.24121

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Objective
The efficacy and safety of zolpidem for treating musician’s dystonia are not well understood. We aimed to retrospectively investigate the efficacy and safety of zolpidem for treating musician’s dystonia.
Methods
We retrospectively reviewed medical records between January 2021 and December 2023 to identify patients with musician’s dystonia who had been prescribed zolpidem. Tubiana’s Musician’s Dystonia Rating Scale (range, 1–5; lower scores indicating greater severity) was used to evaluate musician’s dystonia.
Results
Fifteen patients were included in this study. The mean effective dose of zolpidem was 5.3 ± 2.0 mg. The mean effective duration of zolpidem was 4.3 ± 1.2 h. With zolpidem administration, Tubiana’s musician’s dystonia rating scale score significantly improved from 2.2 ± 1.0 to 4.3 ± 0.8 (48.9% improvement, p < 0.001). Two patients (13.3%) discontinued the drug owing to unsatisfactory results or sleepiness.
Conclusion
The results of this study suggest that zolpidem may be an alternative treatment option for musician’s dystonia.

Citations

Citations to this article as recorded by

Deep Phenotyping of Musicians’ Upper Limb Dystonia
Steven J. Frucht
Tremor and Other Hyperkinetic Movements.2025; 15: 31. CrossRef
The Treatment of Runner’s Dystonia With Zolpidem and a Device Inducing Hanger Reflex
Takashi Asahi, Shiro Horisawa, Takuto Nakamura, Hiroyuki Kajimoto, Ichiro Takumi
Cureus.2025;[Epub] CrossRef
Sleep-Related Eating Disorder and Sexsomnia; Two Rare Parasomnias? A Mini-Review with Illustrative Case-Reports
Gábor Barcs, József Janszky, Mengesha Srahbzu, Réka Horváth, Vivian Miranda Correa, Anna Szűcs
International Journal of Sexual Health.2025; 37(4): 711. CrossRef

Original Article

Analysis of Semiology, Lesion Topography and Treatment Outcomes: A Prospective Study on Post Thalamic Stroke Holmes Tremor: Amlan Kusum Datta, Adreesh Mukherjee, Sudeshna Malakar, Atanu Biswas; J Mov Disord. 2024;17(1):71-81. Published online October 20, 2023; DOI: https://doi.org/10.14802/jmd.23095

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Abstract PDF Supplementary Material

Objective
Holmes tremor (HT) comprises rest, postural and intention tremor subtypes, usually involving both proximal and distal musculature. Perturbations of nigro-striatal pathways might be fundamental in the pathogenesis of HT along with cerebello-thalamic connections.
Methods
Nine patients with an HT phenotype secondary to thalamic stroke were included. Epidemiological and clinical records were obtained. Structural and functional brain imaging were performed with magnetic resonance imaging (MRI) or computed tomography (CT) and positron emission tomography (PET), respectively. Levodopa was administered in sequentially increasing dosage, with various other drugs in case of inadequate response. Longitudinal follow-up was performed for at least three months. The essential tremor rating assessment scale (TETRAS) was used for assessment.
Results
The mean latency from stroke to tremor onset was 50.4 ± 30.60 days (range 21–90 days). Dystonia was the most frequently associated hyperkinetic movement (88.8%). Tremor was bilateral in 22.2% of participants. Clinical response was judged based on a reduction in the TETRAS score by a prefixed value (≥ 30%), pertaining to which 55.5% (n = 5) of subjects were classified as responders and the rest as non-responders. The responders showed improvement with significantly lower doses of levodopa than the remaining nonresponders (240 ± 54.7 mg vs. 400 ± 40.8 mg; p = 0.012).
Conclusion
Although levodopa is useful in HT, augmenting the dosage of levodopa beyond a certain point might not benefit patients clinically. Topography of vascular lesions within the thalamus might additionally influence the phenomenology of HT.

Citations

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Holmes Tremor with Dystonia after Parietal and Premotor Ischemic Stroke in an Essential Tremor Patient: A Case Report
Luca Angelini, Rick C.G. Helmich
Movement Disorders Clinical Practice.2026;[Epub] CrossRef

Case Report

Rapid-Onset Dystonia and Parkinsonism in a Patient With Gaucher Disease: Ellen Hertz, Grisel Lopez, Jens Lichtenberg, Dietrich Haubenberger, Nahid Tayebi, Mark Hallett, Ellen Sidransky; J Mov Disord. 2023;16(3):321-324. Published online June 13, 2023; DOI: https://doi.org/10.14802/jmd.23074

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Abstract PDF Supplementary Material

Biallelic mutations in GBA1 cause the lysosomal storage disorder Gaucher disease, and carriers of GBA1 variants have an increased risk of Parkinson’s disease (PD). It is still unknown whether GBA1 variants are also associated with other movement disorders. We present the case of a woman with type 1 Gaucher disease who developed acute dystonia and parkinsonism at 35 years of age during a recombinant enzyme infusion treatment. She developed severe dystonia in all extremities and a bilateral pill-rolling tremor that did not respond to levodopa treatment. Despite the abrupt onset of symptoms, neither Sanger nor whole genome sequencing revealed pathogenic variants in ATP1A3 associated with rapid-onset dystonia-parkinsonism (RDP). Further examination showed hyposmia and presynaptic dopaminergic deficits in [18F]-DOPA PET, which are commonly seen in PD but not in RDP. This case extends the spectrum of movement disorders reported in patients with GBA1 mutations, suggesting an intertwined phenotype.

Citations

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Emerging Molecular‐Genetic Families in Dystonia: Endosome‐Autophagosome‐Lysosome and Integrated Stress Response Pathways
Nicole Calakos, Michael Zech
Movement Disorders.2025; 40(1): 7. CrossRef
Long‐Read Sequencing: The Third Generation of Diagnostic Testing for Dystonia
Thomas Wirth, Kishore R. Kumar, Michael Zech
Movement Disorders.2025; 40(6): 1009. CrossRef
Phenotypic consequences of GBA1 pathological variant R463C (p.R502C)
Emory Ryan, Samantha Nishimura, Grisel Lopez, Nahid Tayebi, Ellen Sidransky
American Journal of Medical Genetics Part A.2024;[Epub] CrossRef
In vitro study of ATP1A3 p.Ala275Pro mutant causing alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism
Dan-dan Ruan, Jing Zou, Li-sheng Liao, Ming-dong Ji, Ruo-li Wang, Jian-hui Zhang, Li Zhang, Mei-zhu Gao, Qian Chen, Hong-ping Yu, Wen Wei, Yun-fei Li, Hong Li, Fan Lin, Jie-wei Luo, Xin-fu Lin
Frontiers in Neuroscience.2024;[Epub] CrossRef

Original Articles

KMT2B-Related Dystonia in Indian Patients With Literature Review and Emphasis on Asian Cohort: Debjyoti Dhar, Vikram V Holla, Riyanka Kumari, Neeharika Sriram, Jitender Saini, Ravi Yadav, Akhilesh Pandey, Nitish Kamble, Babylakshmi Muthusamy, Pramod Kumar Pal; J Mov Disord. 2023;16(3):285-294. Published online June 13, 2023; DOI: https://doi.org/10.14802/jmd.23035

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Abstract PDF Supplementary Material

Objective
aaMutations in the KMT2B gene have been identified in patients previously diagnosed with idiopathic dystonia. Literature on KMT2B-related dystonia is sparse in the Indian and Asian populations.
Methods
aaWe report seven patients with KMT2B-related dystonia studied prospectively from May 2021 to September 2022. Patients underwent deep clinical phenotyping and genetic testing by whole-exome sequencing (WES). A systematic literature search was performed to identify the spectrum of previously published KMT2B-related disorders in the Asian subcontinent.
Results
aaThe seven identified patients with KMT2B-related dystonia had a median age at onset of four years. The majority experienced onset in the lower limbs (n = 5, 71.4%), with generalization at a median duration of 2 years. All patients except one had complex phenotypes manifesting as facial dysmorphism (n = 4), microcephaly (n = 3), developmental delay (n = 3), and short stature (n = 1). Magnetic resonance imaging (MRI) abnormalities were present in four cases. WES revealed novel mutations in the KMT2B gene in all patients except one. Compared to the largest cohort of patients with KMT2B-related disorders, the Asian cohort, comprising 42 patients, had a lower prevalence of female patients, facial dysmorphism, microcephaly, intellectual disability, and MRI abnormalities. Protein-truncating variants were more prevalent than missense variants. While microcephaly and short stature were more common in patients with missense mutations, facial dysmorphism was more common in patients with truncating variants. Deep brain stimulation, performed in 17 patients, had satisfactory outcomes.
Conclusion
aaThis is the largest series of patients with KMT2B-related disorders from India, further expanding the clinico-genotypic spectrum. The extended Asian cohort emphasizes the unique attributes of this part of the world.

Citations

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Novel heterozygous mutation in KMT2B causing an unusual phenotypic presentation: a comprehensive clinical and bioinformatic analysis
Farzaneh Iravani, Motahare Taghvaei, Fatemeh Sefid, Hosein Eslamiyeh
Molecular Biology Reports.2026;[Epub] CrossRef
Genetic Landscape of Dystonia in Asian Indians
Arti Saini, Inder Singh, Mukesh Kumar, Divya Madathiparambil Radhakrishnan, Ayush Agarwal, Divyani Garg, Arunmozhimaran Elavarasi, Rahul Singh, Vivek Chouhan, Sandeep, Anu Gupta, Venugopalan Yamuna Vishnu, Mamta Bhushan Singh, Rohit Bhatia, Ajay Garg, Ne
Movement Disorders Clinical Practice.2025; 12(5): 594. CrossRef
Clinical Presentation of KMT2B-Related Dystonia: A Case Report
Elizabeth Onoprishvili, Luka Khelaia, Ana Bedoshvili, Nana Nino Tatishvili, Sofia Tatishvili
Cureus.2025;[Epub] CrossRef
Episodic Choreo-Dystonic Storm in an Infantile-Onset Movement Disorder: Think of G Protein Subunit Alpha O1 Gene Defect!
Manas Saxena, T Ashok V Reddy, Kaniti Sowjanya, V Mounika Reddy, Niraj Kumar
Annals of Indian Academy of Neurology.2025; 28(6): 905. CrossRef
Clinical and genetic profile of patients with dystonia: An experience from a tertiary neurology center from India
Debjyoti Dhar, Vikram V. Holla, Riyanka Kumari, Ravi Yadav, Nitish Kamble, Babylakshmi Muthusamy, Pramod Kumar Pal
Parkinsonism & Related Disorders.2024; 120: 105986. CrossRef
The clinical spectrum and pathogenesis associated with KMT2B variants in Chinese pediatric patients
Shuangjin Ding, Gang Xie, Zonglin Han, Yangming Wang, Ming Shi, Feng Zhai, Tinghong Liu, Zihang Xie, Weihua Zhang, Yun Wu, Xinying Yang, Anna Zhou, Fang Fang, Shuhong Ren, Shuli Liang, Huiqing Cao, Hui Xiong, Changhong Ding, Lifang Dai
Parkinsonism & Related Disorders.2024; 129: 107172. CrossRef

Reliability and Validity of the Embouchure Dystonia Severity Rating Scale: Tobias Mantel, André Lee, Shinichi Furuya, Masanori Morise, Eckart Altenmüller, Bernhard Haslinger; J Mov Disord. 2023;16(2):191-195. Published online May 24, 2023; DOI: https://doi.org/10.14802/jmd.22213

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Objective
Embouchure dystonia (ED) is a task-specific movement disorder that leads to loss of fine motor control of the embouchure and tongue muscles in wind musicians. In contrast to musicians’ hand dystonia, no validated severity rating for ED exists, posing a major obstacle for structured assessment in scientific and clinical settings. The aim of this study is to validate an ED severity rating scale (EDSRS) allowing for a standardized estimation of symptom severity in ED.
Methods
The EDSRS was set up as a composite score of six items evaluating audio-visual disease symptoms during the performance of three standardized musical tasks (sustained notes, scales, and fourths) separately for each body side. For validation, 17 musicians with ED underwent standardized audiovisual recordings during performance. Anonymized and randomized recordings were assessed by two experts in ED (raters). Statistical analysis included metrics of consistency, reliability, and construct validity with the fluctuation of the fundamental frequency of the acoustic signal (F0) (extracted in an audio analysis of the sustained notes).
Results
The EDSRS showed high internal consistency (Cronbach’s α = 0.975−0.983, corrected item-total correlations r = 0.90−0.96), interrater reliability (intraclass correlation coefficient [ICC] for agreement/consistency = 0.94/0.96), intrarater reliability over time (ICC per rater = 0.93/0.87) and good precision (standard error of measurement = 2.19/2.65), and correlated significantly with F0 variability (r = 0.55–0.60, p = 0.011–0.023).
Conclusion
The developed EDSRS is a valid and reliable tool for the assessment of ED severity in the hands of trained expert raters. Its easy applicability makes it suitable not only for routine clinical practice but also for scientific studies.

Citations

Citations to this article as recorded by

Preventing Musician’s Focal Dystonia: A guide for music educators
Anna Détári, Eckart Altenmüller
International Journal of Music Education.2025;[Epub] CrossRef

Review Articles

Adult-Onset Genetic Leukoencephalopathies With Movement Disorders: Mu-Hui Fu, Yung-Yee Chang; J Mov Disord. 2023;16(2):115-132. Published online March 7, 2023; DOI: https://doi.org/10.14802/jmd.22127

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