21,249 results match your criteria Dystonias

Is essential tremor a family of diseases or a syndrome? A syndrome.

Sanjay Pandey

Int Rev Neurobiol 2022 21;163:31-59. Epub 2022 Mar 21.

Department of Neurology, Govind Ballabh Pant Postgraduate Institute of Medical Education and Research, New Delhi, India. Electronic address:

In a consensus statement, a task force of the "International Parkinson and Movement Disorder Society" (IPMDS) has recently proposed a two axes classification for tremor: axis I (clinical manifestations) and axis II (etiology). In the axis, I, the clinical features of tremor in a given patient are specified in terms of medical history, tremor characteristics, associated signs, and laboratory tests for some tremors leading to the discovery of axis 2 etiologies. Based on axis I sign and symptoms a specific clinical syndrome is diagnosed which have been categorized as isolated tremor syndrome (a syndrome consisting only of tremor) and combined tremor syndrome (consisting of tremor and other systemic or neurological signs). Read More

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Case Report: Clinical Outcome From Pallidal Stimulation in a Patient With Levodopa-Resistant Dopa-Responsive Dystonia.

Front Neurol 2022 6;13:921577. Epub 2022 Jun 6.

Department of Functional Neurosurgery, Xuanwu Hospital of Capital Medical University, Beijing, China.

Dopa-responsive dystonia (DRD) is a group of movement disorders with genetic and clinical heterogeneity. Dramatic response to levodopa is the hallmark of DRD. Therefore, DRD cases with poor response to levodopa are rarely reported. Read More

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Pilot Feasibility Study of a Multi-View Vision Based Scoring Method for Cervical Dystonia.

Sensors (Basel) 2022 Jun 20;22(12). Epub 2022 Jun 20.

Neurotoxin Research Center of Key Laboratory of Spine and Spinal Cord Injury Repair and Regeneration of Ministry of Education, Neurological Department of Tongji Hospital, School of Medicine, Tongji University, 389 Xincun Road, Shanghai 200065, China.

Abnormal movement of the head and neck is a typical symptom of Cervical Dystonia (CD). Accurate scoring on the severity scale is of great significance for treatment planning. The traditional scoring method is to use a protractor or contact sensors to calculate the angle of the movement, but this method is time-consuming, and it will interfere with the movement of the patient. Read More

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Home-Based Measurements of Dystonia in Cerebral Palsy Using Smartphone-Coupled Inertial Sensor Technology and Machine Learning: A Proof-of-Concept Study.

Sensors (Basel) 2022 Jun 9;22(12). Epub 2022 Jun 9.

Rehabilitation Medicine, Amsterdam UMC Location Vrije Universiteit Amsterdam, 1081 HZ Amsterdam, The Netherlands.

Accurate and reliable measurement of the severity of dystonia is essential for the indication, evaluation, monitoring and fine-tuning of treatments. Assessment of dystonia in children and adolescents with dyskinetic cerebral palsy (CP) is now commonly performed by visual evaluation either directly in the doctor's office or from video recordings using standardized scales. Both methods lack objectivity and require much time and effort of clinical experts. Read More

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The Patho-Neurophysiological Basis and Treatment of Focal Laryngeal Dystonia: A Narrative Review and Two Case Reports Applying TMS over the Laryngeal Motor Cortex.

J Clin Med 2022 Jun 15;11(12). Epub 2022 Jun 15.

Department of Medical Chemistry and Biochemistry, University of Split School of Medicine, 21000 Split, Croatia.

Focal laryngeal dystonia (LD) is a rare, idiopathic disease affecting the laryngeal musculature with an unknown cause and clinically presented as adductor LD or rarely as abductor LD. The most effective treatment options include the injection of botulinum toxin (BoNT) into the affected laryngeal muscle. The aim of this narrative review is to summarize the patho-neuro-physiological and genetic background of LD, as well as the standard recommended therapy (BoNT) and pharmacological treatment options, and to discuss possible treatment perspectives using neuro-modulation techniques such as repetitive transcranial magnetic stimulation (rTMS) and vibrotactile stimulation. Read More

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One Molecule for Mental Nourishment and More: Glucose Transporter Type 1-Biology and Deficiency Syndrome.

Biomedicines 2022 May 26;10(6). Epub 2022 May 26.

Department of Rheumatology, Emergency Clinical County Hospital Cluj, Centre for Rare Autoimmune and Autoinflammatory Diseases (ERN-ReCONNET), 400347 Cluj-Napoca, Romania.

Glucose transporter type 1 (Glut1) is the main transporter involved in the cellular uptake of glucose into many tissues, and is highly expressed in the brain and in erythrocytes. Glut1 deficiency syndrome is caused mainly by mutations of the gene, impairing passive glucose transport across the blood-brain barrier. All age groups, from infants to adults, may be affected, with age-specific symptoms. Read More

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Transcranial magnetic stimulation of the brain: What is stimulated? - A consensus and critical position paper.

Clin Neurophysiol 2022 May 18;140:59-97. Epub 2022 May 18.

Department of Neurology, Fukushima Medical University, Fukushima, Japan; Fukushima Global Medical Science Centre, Advanced Clinical Research Centre, Fukushima Medical University, Fukushima, Japan.

Transcranial (electro)magnetic stimulation (TMS) is currently the method of choice to non-invasively induce neural activity in the human brain. A single transcranial stimulus induces a time-varying electric field in the brain that may evoke action potentials in cortical neurons. The spatial relationship between the locally induced electric field and the stimulated neurons determines axonal depolarization. Read More

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Gray Matter Structural and Functional Alterations in Idiopathic Blepharospasm: A Multimodal Meta-Analysis of VBM and Functional Neuroimaging Studies.

Front Neurol 2022 6;13:889714. Epub 2022 Jun 6.

Department of Neurology, West China Hospital, Sichuan University, Chengdu, China.

Background: Neuroimaging studies have shown gray matter structural and functional alterations in patients with idiopathic blepharospasm (iBSP) but with variations. Here we aimed to investigate the specific and common neurostructural/functional abnormalities in patients with iBSP.

Methods: A systematic literature search from PubMed, Web of Science and Embase was conducted to identify relevant publications. Read More

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The cost-effectiveness of abobotulinumtoxinA (Dysport®) and onabotulinumtoxinA (Botox®) for managing spasticity of the upper and lower limbs, and cervical dystonia.

J Med Econ 2022 Jun 22:1-30. Epub 2022 Jun 22.

Ipsen Slough, London, UK.

Objective: To evaluate the costs and benefits associated with the use of abobotulinumtoxinA (aboBoNT-A) and onabotulinumtoxinA (onaBoNT-A) for lower limb spasticity in children, upper and lower limb spasticity in adults, and cervical dystonia in adults.

Methods: This pharmacoeconomic analysis compared aboBoNT-A with onaBoNT-A. A decision tree model with a one-year time horizon was conducted from a UK National Health Service (NHS) perspective using data from a variety of sources: randomised controlled trials (RCTs), network meta-analysis (NMA), an observational study, and a physician survey investigating treatment patterns and resource utilization. Read More

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Early recognition of SGCE-myoclonus-dystonia in children.

Dev Med Child Neurol 2022 Jun 20. Epub 2022 Jun 20.

Department of Pediatric Neurology, Vall d'Hebron Hospital Universitari, Pediatric.

Aim: To evaluate early dystonic features in children and adolescents with SGCE-myoclonus-dystonia.

Method: In this cross-sectional study, 49 patients (26 females and 23 males) with SGCE-myoclonus-dystonia (aged 15y 2mo, SD 12y) with childhood-onset (2y 10mo, SD 1y 10mo) dystonia were examined using a standardized video recorded protocol. Dystonia was rated using the Writer's Cramp and Gait Dystonia Rating Scales. Read More

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Highlighting the Dystonic Phenotype Related to GNAO1.

Mov Disord 2022 Jun 20. Epub 2022 Jun 20.

Sorbonne Université/Inserm U1127/CNRS UMR 7225/Institut du Cerveau, Paris, France.

Background: Most reported patients carrying GNAO1 mutations showed a severe phenotype characterized by early-onset epileptic encephalopathy and/or chorea.

Objective: The aim was to characterize the clinical and genetic features of patients with mild GNAO1-related phenotype with prominent movement disorders.

Methods: We included patients diagnosed with GNAO1-related movement disorders of delayed onset (>2 years). Read More

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Clinical and genetic characterization of CACNA1A-related disease.

Clin Genet 2022 Jun 20. Epub 2022 Jun 20.

Department of Pediatrics, Columbia University, New York, NY, USA.

Pathogenic variants in the CACNA1A gene have been associated with episodic ataxia type 2, familial hemiplegic migraine, and spinocerebellar ataxia 6. With increasing use of clinical genetic testing, associations have expanded to include developmental delay, epilepsy, paroxysmal dystonia, and neuropsychiatric disorders. We report 47 individuals with 33 unique likely pathogenic or pathogenic CACNA1A variants. Read More

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Efficacy and safety of apomorphine pump infusion in Filipino patients insufficiently controlled on oral anti-Parkinson medications: an open-label, pilot study.

Int J Neurosci 2022 Jun 20:1-10. Epub 2022 Jun 20.

Center for Neuro-diagnostic and Therapeutic Services, Metropolitan Medical Center, Manila, Philippines.

Apomorphine hydrochloride is used in the management of advanced Parkinson disease (PD), either as a rescue medication for off periods during levodopa therapy or as a maintenance pump medication. This is the first study to describe the effects of apomorphine in Filipino patients with PD. To evaluate the safety and efficacy of apomorphine ampules (APO-go®) pump infusion in the treatment of motor fluctuations in patients inadequately controlled on oral anti-Parkinson medications. Read More

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Top-Up Clozapine for Risperidone LAI-Related Acute Dystonia and TR Bipolar in an Adolescent with ID-

Psychopharmacol Bull 2022 May;52(2):161-164

Naguy, MBBCh, MSc, Child/Adolescent Psychiatrist, Al-Manara CAP Centre, Kuwait Centre for Mental Health (KCMH), Jamal Abdul-Nassir St, Shuwaikh, State of Kuwait. Pridmore, MD, Professor of Psychiatry, University of Tasmania, Hobart, Australia. Singh, MBBch, MD, Mrcpsych (UK), Speciality Doctor, Learning Disabilities, Exeter, Devon NHS partnership Trust, UK, and Assistant Professor, Psychiatry, Saraswati medical college, Lucknow, India. Alamiri, MD, ABPN, ScD, Consultant Child/Adolescent Psychiatrist, Head of Al-Manara CAP Centre, KCMH, Kuwait, and, Assistant Professor, Tufts University, Medford, United States.

Objectives: Young patients with intellectual disability (ID) have both diagnostic and therapeutic challenges. These include, inter alia, diagnostic overshadowing, diagnostic slippage and heightened vulnerability to adverse drug reactions. These would portent a generally poor prognostication. Read More

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Phenotypic and Genetic Complexity in Pediatric Movement Disorders.

Front Genet 2022 1;13:829558. Epub 2022 Jun 1.

Department of Genetics, Asan Medical Center, Ulsan University College of Medicine, Seoul, South Korea.

The complex and evolving nature of clinical phenotypes have made genetically diagnosing pediatric patients with movement disorders difficult. Here, we describe this diverse complexity in the clinical and genetic features of a pediatric cohort examined by whole-exome sequencing (WES) and demonstrate the clinical benefit of WES as a diagnostic tool in a pediatric cohort. We evaluated 75 patients with diverse single or combined movement phenomenologies using WES. Read More

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Diagnosis and classification of blepharospasm: Recommendations based on empirical evidence.

J Neurol Sci 2022 Jun 10;439:120319. Epub 2022 Jun 10.

Department of Neurology, Emory University School of Medicine, Atlanta, GA, USA; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA. Electronic address:

Background: Blepharospasm is one of the most common subtypes of dystonia, and often spreads to other body regions. Despite published guidelines, the approach to diagnosis and classification of affected body regions varies among clinicians.

Objective: To delineate the clinical features used by movement disorder specialists in the diagnosis and classification of blepharospasm according to body regions affected, and to develop recommendations for a more consistent approach. Read More

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Top 10 Research Themes for Dystonia in Cerebral Palsy: A Community-Driven Research Agenda.

Neurology 2022 Jun 17. Epub 2022 Jun 17.

Department of Neurology, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, Missouri, USA (L.A.G., B.R.A.)

Dystonia in cerebral palsy (DCP) is a common, debilitating, but under-studied condition. The CP community (people with CP and caregivers) is uniquely equipped to help determine the research questions that best address their needs. We developed a community-driven DCP research agenda using the well-established James Lind Alliance methodology. Read More

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['s experience in treating spasmodic torticollis by method].

Zhongguo Zhen Jiu 2022 Jun;42(6):679-82

First Teaching Hospital of Tianjin University of TCM, Tianjin 300380, China; National Clinical Research Center for Acupuncture and Moxibustion of Chinese Medicine, Tianjin 300380.

Professor 's experience in treating spasmodic torticollis by method (resuscitation and regulating muscle) is summarized in this paper. The pathogenesis of spasmodic torticollis is the occluded brain orifices and delirium, disorder of meridian tendons, specifically divided into five categories: damp-heat, liver- hyperactivity, liver-kidney deficiency, deficiency of the governor vessel, excess of the governor vessel. The treatment should be based on the symptoms and the root causes, the symptoms should be the main treatment, and the root cause should be treated based on syndrome differentiation. Read More

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mutation in a Japanese woman: Adult-onset focal epilepsy coexisting with movement disorders and cerebellar atrophy.

Epilepsy Behav Rep 2022 18;19:100554. Epub 2022 May 18.

National Epilepsy Center, NHO Shizuoka Institute of Epilepsy and Neurological Disorders, 886 Urushiyama, Aoi-ku, Shizuoka 420-8688, Japan.

Proline-rich transmembrane protein 2 () was confirmed as the causative gene of paroxysmal kinesigenic dyskinesia (PKD) as shown by genome-wide linkage analyses. mutations are also associated with benign familial infantile seizures, infantile convulsions and choreoathetosis, and childhood absence epilepsy, but few reports have investigated adult-onset epilepsy. We describe here a rare presentation of adult-onset focal epilepsy with a mutation in a 31-year-old woman who showed cerebellar atrophy, familial paroxysmal kinesigenic dyskinesia, and paroxysmal non-kinesigenic dystonia. Read More

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Respective Contributions of Instrumented 3D Gait Analysis Data and Tibial Motor Nerve Block on Presurgical Spastic Equinus Foot Assessment: A Retrospective Study of 40 Adults.

Front Neurol 2022 27;13:862644. Epub 2022 May 27.

Department of Physiological Explorations, University Hospital of Toulouse, Toulouse, France.

Spastic equinus foot is a common deformity in neurologic patients who compromise walking ability. It is related to the imbalance between weak dorsiflexion and overactive plantar flexor muscles. To achieve the best functional results after surgical management, the challenge is to identify the relevant components involved in the deformity using several methods, namely, examination in the supine position, motor nerve blocks allowing transient anesthesia of suspected overactive muscles, and kinematic and electromyographic data collected during an instrumented 3D gait analysis. Read More

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Screening of the Gene in Patients With Paroxysmal Kinesigenic Dyskinesia and Other Movement Disorders.

Front Neurol 2022 30;13:865690. Epub 2022 May 30.

Department of Neurology, Center for Movement Disorders, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.

Background: Paroxysmal kinesigenic dyskinesia (PKD) is a rare neurological disorder characterized by recurrent involuntary movements usually triggered by sudden movements. Mutations in the gene were found to be the causative factor of PKD in recent studies. It has also been revealed that loss-of-function is the mechanism by which mutations cause PKD. Read More

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Whole exome sequencing identifies a novel compound heterozygous GFM1 variant underlying developmental delay, dystonia, polymicrogyria, and severe intellectual disability in a Pakhtun family.

Am J Med Genet A 2022 Jun 15. Epub 2022 Jun 15.

Rare Disease Genetics and Genomics, Centre for Omic Sciences, Khyber Pakhtunkhwa, Pakistan.

Mitochondrial protein synthesis requires three elongation factors including EF-Tu (TUFM; OMIM 602389), EF-Ts (TSFM; OMIM 604723), and EF-G1 (GFM1; OMIM 606639). Pathogenic variants in any of these three members result in defective mitochondrial translation which can impart an oxidative phosphorylation (OXPHOS) deficiency. In this study, we investigated a consanguineous Pakhtun Pakistani family. Read More

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Cortical and Subthalamic Nucleus Spectral Changes During Limb Movements in Parkinson's Disease Patients with and Without Dystonia.

Mov Disord 2022 Jun 14. Epub 2022 Jun 14.

Department of Neurology, University of Alabama at Birmingham, Birmingham, Alabama, USA.

Background: Dystonia is an understudied motor feature of Parkinson's disease (PD). Although considerable efforts have focused on brain oscillations related to the cardinal symptoms of PD, whether dystonia is associated with specific electrophysiological features is unclear.

Objective: The objective of this study was to investigate subcortical and cortical field potentials at rest and during contralateral hand and foot movements in patients with PD with and without dystonia. Read More

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Comprehensive analysis of non-motor symptoms and their association with quality of life in Writer's cramp.

Parkinsonism Relat Disord 2022 Jun 9;100:37-40. Epub 2022 Jun 9.

Department of Neurology, Laboratory of Neurodegenerative Disorders, Rare Diseases Center, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, Chengdu, China. Electronic address:

Objective: Limited studies have focused on non-motor symptoms (NMS) in patients with Writer's cramp (WC). The current study aimed to examine the frequency of NMS and their association with health-related quality of life (HR-QoL) in patients with WC.

Methods: A total of 80 patients with WC and 69 healthy controls (HCs) were enrolled. Read More

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Leber's hereditary optic neuropathy plus dystonia caused by the mitochondrial ND1 gene m.4160 T > C mutation.

Neurol Sci 2022 Jun 14. Epub 2022 Jun 14.

Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital, Cheeloo College of Medicine, Shandong University, No. 107 West Wenhua Road, Jinan, 250012, Shandong, China.

Background: Leber's hereditary optic neuropathy (LHON) is a common mitochondrial disease. More than 30 variants in the mitochondrial DNA (mtDNA) have been previously described in LHON. However, the pathogenicity of some variants remains unclear. Read More

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Functional abnormalities in the cerebello-thalamic pathways in a mouse model of DYT25 dystonia.

Elife 2022 Jun 14;11. Epub 2022 Jun 14.

Neurophysiology of Brain Circuits Team, Institut de biologie de l'Ecole normale supérieure (IBENS), Ecole normale supérieure, CNRS, INSERM, PSL Research University, Paris, France.

Dystonia is often associated with functional alterations in the cerebello-thalamic pathways, which have been proposed to contribute to the disorder by propagating pathological firing patterns to the forebrain. Here, we examined the function of the cerebello-thalamic pathways in a model of DYT25 dystonia. DYT25 () mice carry a heterozygous knockout mutation of the gene, which notably disrupts striatal function, and systemic or striatal administration of oxotremorine to these mice triggers dystonic symptoms. Read More

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Generalised dystonic presentation of CACNA1B-associated dystonia and its response to Levodopa.

Acta Neurol Belg 2022 Jun 13. Epub 2022 Jun 13.

Department of Neurology, Vydehi Institute of Medical Sciences and Research Centre, Bangalore, India.

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Spasmodic dysphonia: An overview of clinical features and treatment options.

Tetsuji Sanuki

Auris Nasus Larynx 2022 Jun 11. Epub 2022 Jun 11.

Department of Otolaryngology-Head and Neck Surgery, Nagoya City University Graduate School of Medical Sciences, 1 Kawasumi Mizuho-Cho, Mizuho-Ku, Nagoya, Japan. Electronic address:

Spasmodic dysphonia (SD) is considered a rare focal laryngeal dystonia characterized by task-specific voice dysfluency resulting from selective intrinsic laryngeal musculature hyperfunction. Symptoms may be attenuated by a sensory trick. Although SD can be seen at times in generalized dystonia syndrome, it is typically a sporadic phenomenon, and the involvement of the laryngeal adductor muscles is more common than that of the abductor muscles. Read More

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