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Reliability and Validity of the Embouchure Dystonia Severity Rating Scale

Mantel T, Lee A, Furuya S, Morise M, Altenmüller E, Haslinger B

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...
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Adult-Onset Genetic Leukoencephalopathies With Movement Disorders

Fu MH, Chang YY

Genetic leukoencephalopathies (GLEs) are a group of white matter abnormalities with heterogeneous radiological and phenotypic features. Although these conditions have mostly been described in children, adult-onset cases are increasingly recognized...
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Hyperkinetic Rat Model Induced by Optogenetic Parafascicular Nucleus Stimulation

Chung M, Park YS

Objective : The parafascicular nucleus (PF) plays important roles in controlling the basal ganglia. It is not well known whether the PF affects the development of abnormal involuntary movements (AIMs)....
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Movement Disorders Associated With Radiotherapy and Surgical Procedures

Surisetti BK, Prasad S, Holla VV, Kamble N, Yadav R, Pal PK

Occasionally, movement disorders can occur following interventional procedures including but not limited to radiotherapy, dental procedures, and cardiac, cerebral and spinal surgeries. The majority of these disorders tend to be...
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A KMT2B Frameshift Variant Causing Focal Dystonia Restricted to the Oromandibular Region After Long-Term Follow-up

Closas AMFD, Lohmann K, Tan AH, Ibrahim NM, Lim JL, Tay YW, Muthusamy KA, Ahmad-Annuar AB, Klein C, Lim SY

KMT2B-linked dystonia (DYT-KMT2B) is a childhood-onset dystonia syndrome typically beginning in the lower limbs and progressing caudocranially to affect the upper limbs with eventual prominent craniocervical involvement. Despite its recent...
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Long-Term Outcomes of Deep Brain Stimulation in Pantothenate Kinase-Associated Neurodegeneration-Related Dystonia

Woo KA, Kim HJ, Jeon SH, Park HR, Park KW, Lee SH, Chung SJ, Chae JH, Paek SH, Jeon B

Objective To investigate the long-term clinical outcomes of pallidal deep brain stimulation (GPi-DBS) in patients with pantothenate kinase-associated neurodegeneration (PKAN). Methods We reviewed the records of patients with genetically confirmed PKAN...
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Pallidus Stimulation for Chorea-Acanthocytosis: A Systematic Review and Meta-Analysis of Individual Data

He W, Li C, Dong H, Shao L, Yin B, Li D, Ye L, Hu P, Zhang C, Yi W

A significant proportion of patients with chorea-acanthocytosis (ChAc) fail to respond to standard therapies. Recent evidence suggests that globus pallidus internus (GPi) deep brain stimulation (DBS) is a promising treatment...
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Utility of Clinical Exome Sequencing in Dystonia: A Single-Center Study From India

Holla VV, Neeraja K, Stezin A, Prasad S, Surisetti BK, Netravathi M, Kamble N, Yadav R, Pal PK

Objective With the use of next-generation sequencing in clinical practice, several genetic etiologies of dystonia have been identified. This study aimed to ascertain the utility of clinical exome sequencing (CES)...
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Bayesian Interpretation of Essential Tremor Plus

Elble RJ

Essential tremor (ET) plus is a new tremor classification that was introduced in 2018 by a task force of the International Parkinson and Movement Disorder Society. Patients with ET plus...
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Dual Pallidal and Thalamic Deep Brain Stimulation for Complex Ipsilateral Dystonia

Chang KW, Kim MJ, Park SH, Chang WS, Jung HH, Chang JW

Purpose: Globus pallidus pars interna (GPi) has become an established target for deep brain stimulation (DBS) in dystonia. Previous studies suggest that targeting the ventralis oralis (Vo) complex nucleus improves...
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Deep Brain Stimulation for Cockayne Syndrome-Associated Movement Disorder

Domino JS, Gelineau-Morel R, Kaufman C

Cockayne syndrome (CS) is a rare progeroid disorder characterized by multisystem degeneration, including neurological dysfunction, for which deep brain stimulation (DBS) is a proposed treatment. This study represents only the...
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Hemidystonia after Pontine Hemorrhage Successfully Treated with Pharmacotherapy and Intensive Rehabilitation: a Case Report

Kim GS, Jeong YG, Jeong YJ, Yoon SY

Dystonia is a movement disorder characterized by involuntary contraction of muscles resulting in repetitive or twisting movements. Dystonia is generally caused by basal ganglia dysfunction.Recent studies have reported an association...
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Dystonia Responsive to Dopamine: POLG Mutations Should Be Considered If Sensory Neuropathy Is Present

Qiu J, Kumar KR, Watson E, Ahmad K, Sue CM, Hayes MW

The POLG gene encodes mitochondrial DNA polymerase, and mutations in this gene cause a spectrum of disorders related to mitochondrial DNA depletion or deletion. Dystonia has only rarely been reported...
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Impact of Upper Eyelid Surgery on Symptom Severity and Frequency in Benign Essential Blepharospasm

Timlin HM, Jiang K, Ezra DG

Objective To assess the impact of periocular surgery, other than orbicularis stripping, on the severity and frequency of blepharospasm symptoms. Methods Consecutive patients with benign essential blepharospasm (BEB) who underwent eyelid/eyebrow...
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Olanzapine-induced Concurrent Tardive Dystonia and Tardive Dyskinesia in Schizophrenia with Intellectual Disability: A Case Report

Choe YM, Kim SY, Choi IG, Suh GH, Lee DY, Lee BC, Kim JW

Tardive dystonia and tardive dyskinesia (TDs) are rare extrapyramidal side effects that develop after long-term use of antipsychotics, but they are different syndromes and rarely occur at the same time....
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Accuracy of Ultrasound-Guided and Non-guided Botulinum Toxin Injection Into Neck Muscles Involved in Cervical Dystonia: A Cadaveric Study

Ko YD, Yun SI, Ryoo D, Chung ME, Park J

Objective To compare the accuracy of ultrasound-guided and non-guided botulinum toxin injections into the neck muscles involved in cervical dystonia. Methods Two physicians examined six muscles (sternocleidomastoid, upper trapezius, levator scapulae,...
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Deep Brain Stimulation Battery Exhaustion during the COVID-19 Pandemic: Crisis within a Crisis

Holla VV, Neeraja K, Surisetti BK, Prasad S, Kamble N, Srinivas D, Yadav R, Pal PK

Objective The novel coronavirus disease (COVID-19) pandemic and public health measures to control it have resulted in unique challenges in the management of patients with deep brain stimulation (DBS). We...
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Juvenile Parkinsonism with PARK2 Gene Mutation Misdiagnosed as Dopa-responsive Dystonia: a Case Report

Hong S, Lee S, Cho SR

Parkinson's disease is prevalent in elderly patients, usually aged over 50 years. If clinical symptoms of parkinsonism appear before 21 years of age, it is called juvenile parkinsonism (JP). JP...
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Dopa-responsive dystonia with additional unusual clinical features: A case report confirmed by molecular genetics

Lee WW, Choi JM, Lee CG

The term dopa-responsive dystonia (DRD) is used to describe a group of neurometabolic disorders, which are characterized by dystonia, and are typically associated with diurnal fluctuations and respond to levodopa...
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Adult-Onset Primary Focal Foot Dystonia Improved with Custom Made Ankle-Foot Orthosis

Lee S, Lee YM, Uhm KE, Lee J

The foot or lower extremity is rarely the initial site in adult-onset dystonia, whereas dystonia in children often begins in the foot. Isolated lower extremity dystonia in adults is rarely...
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