24,765 results match your criteria: "Dystonias"
Ann Indian Acad Neurol
November 2024
Department of Neurology and Stroke Medicine, Amrita Hospital, Faridabad, Delhi National Capital Region, India.
Background And Objectives: Tremor is one of the most frequent movement disorders encountered in clinical practice with heterogeneous phenomenology and etiology. Surface electromyography (SEMG) is a noninvasive and reproducible test that can diagnose tremor syndromes.
Methods: In this retrospective study, the clinical and electrophysiologic records of 97 consecutive patients with tremor syndromes who visited our movement disorder clinic between January 2023 and March 2024 were examined.
Am J Med Genet A
December 2024
Medical Genetic Division, Department of Pediatrics, King Saud University Medical City, Riyadh, Saudi Arabia.
Myoclonus-dystonia syndrome (MDS, OMIM #159900) is an autosomal-dominant movement disorder caused by heterozygous variants in the epsilon sarcoglycan gene (SGCE) and characterized by a combination of myoclonic jerks, dystonia, and psychiatric comorbidities. Patients with MDS have a normal life expectancy with markedly reduced quality of life. Here, we report four family members diagnosed with MDS of variable severity due to a novel heterozygous splicing variant in SGCE (c.
View Article and Find Full Text PDFClin Neurophysiol
December 2024
Department of Neurology, University Medical Center Groningen (UMCG), University of Groningen, Hanzeplein 1, 9700 RB Groningen, the Netherlands; Expertise Center Movement Disorders Groningen, University Medical Center Groningen (UMCG), the Netherlands. Electronic address:
Objective: Clinical rating scales often fail to capture the full spectrum of dystonic symptoms. Deep brain stimulation of the globus pallidus interna (GPi-DBS) effectively treats dystonia, but response variability necessitates a reliable biomarker. Intermuscular coherence (4-12 Hz) has been linked to abnormal activity in the cortico-basal ganglia-thalamo-cortical (CBGTC) loop and may serve as an objective measure of dystonia and GPi-DBS effectiveness.
View Article and Find Full Text PDFPediatr Int
December 2024
Medical Faculty, Department of Pediatric Metabolism and Nutrition, Ege University, Izmir, Türkiye.
Background: Niemann-Pick type C (NPC) disease is a lysosomal storage disease with visceral organ involvement and neurological and psychiatric symptoms. This study presents the clinical and laboratory findings of NPC cases involving three novel variants.
Methods: The clinical and laboratory findings were reviewed retrospectively between February 2006 and December 2022.
BMC Pharmacol Toxicol
December 2024
Department of Pharmacy, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, 610041, China.
Background: H1-antihistamines are widely used to treat symptoms depending on histamine release in a variety of conditions. However, neurological adverse events have been reported in post-marketing surveillance studies and there are limited literatures comparing the neurological disorders associated with newer-generation H1-antihistamines from real-world datasets.
Aims: We performed a comparative analysis of nervous system disorders and several newer-generation H1-antihistamines including: cetirizine, loratadine, levocetirizine, desloratadine and fexofenadine.
BMC Med Inform Decis Mak
December 2024
School of Medical and Life Sciences, Sunway University, Sunway City, 47500, Malaysia.
Background: Digital solutions can help monitor medication safety in children who are often excluded in clinical trials. The lack of reliable safety data often leads to either under- or over-dose of medications during clinical management which make them either not responding well to treatment or susceptible to adverse drug reactions (ADRs).
Aim: This study investigated ADR signalling techniques to detect serious ADRs in Malaysian children aged from birth to 12 years old using an electronic ADRs' database.
BMJ Case Rep
December 2024
McMaster Children's Hospital/ Hamilton Health Sciences, Hamilton, Ontario, Canada.
This case report describes the clinical journey of a male patient in early childhood with developmental delay, failure to thrive, worsening right-sided head tilt torticollis and regression of motor skills with spasticity of the lower limbs. The case was complex due to the early onset and gradually worsening symptoms, including a decline in established motor milestones. Genetic testing to investigate the delayed neurodevelopment revealed a variant that did not fully explain the patient's phenotype.
View Article and Find Full Text PDFChilds Nerv Syst
December 2024
Department of Neurosurgery, Alder Hey Children's Hospital, Liverpool, L14 5AB, UK.
Introduction: This study investigated the effects of selective dorsal rhizotomy (SDR) on dystonia and dystonic posture in patients with cerebral palsy (CP) presenting with mixed spasticity and dystonia.
Method: A prospective, single-centre study was conducted at a UK supra-regional centre from May 2013 to September 2022. All children with spasticity, dystonia and/or dystonic posture undergoing SDR were included.
Mov Disord Clin Pract
December 2024
Department of Neurology, Universidade Federal de Sao Paulo, Sao Paulo, Brazil.
Mov Disord Clin Pract
December 2024
Krembil Research Institute, University Health Network, University of Toronto, Toronto, Ontario, Canada.
Background: Myoclonus and other jerky movement disorders are hyperkinetic disorders, the diagnosis of which heavily relies on clinical neurophysiological testing. However, formal diagnostic criteria are lacking, and recently the utility and reliability of these tests have been questioned.
Objective: The aim of this review was to assess the utilization of clinical neurophysiology testing to identify possible gaps and boundaries that might guide the development of new methods for a more precise diagnosis and in-depth understanding of myoclonus.
J Clin Med
November 2024
Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
: Hyperkinetic movement disorders involve excessive, involuntary movements such as ataxia, chorea, dystonia, myoclonus, tics, and tremor. Recent advances in artificial intelligence (AI) allow investigators to integrate multimodal instrumented movement measurements and imaging techniques and to analyze these data together at scale. In this systematic review, we aim to characterize AI's performance in diagnosing and quantitatively phenotyping these disorders.
View Article and Find Full Text PDFDev Med Child Neurol
December 2024
Innovative Therapies in Pediatric Neurology Research Group, Vall d'Hebron Research Institute, Barcelona, Spain.
Aim: To investigate the natural progression of SGCE-associated myoclonus dystonia from symptom onset in childhood to early adulthood.
Method: Myoclonus and dystonia were monitored using rating scales in two cohorts of participants from Spain and the Netherlands. Individual annualized rates of change were calculated and longitudinal trends were assessed using Bayesian mixed models.
Dystonia is one of the most prevalent movement disorders, characterized by significant clinical and etiological heterogeneity. Despite considerable heritability (∼25%) and the identification of several disease-linked genes, the etiology in most patients remains elusive. Moreover, understanding the correlations between clinical manifestation and genetic variants has become increasingly complex.
View Article and Find Full Text PDFAnn Rehabil Med
December 2024
Department of Rehabilitation Medicine, National Rehabilitation Center, Ministry of Health and Welfare, Seoul, Korea.
Objective: Tremors are caused by contractions of reciprocally innervated muscles. The role of ultrasound in diagnosing tremors has not yet been investigated, although it appears to be promising because it can visualize muscle movements. In the present study, we report four cases of tremor (Holmes' tremor, extremity tremor associated with palatal myoclonus, dystonic tremor, and tremor associated with dystonia), which were evaluated using ultrasound and treated with botulinum toxin injections.
View Article and Find Full Text PDFAm J Otolaryngol
December 2024
Carmel Medical Center, Department of Otolaryngology - Head and Neck Surgery, Haifa, Israel; The Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel.
Purpose: Traditional vocal fold pathology recognition typically requires expertise of laryngologists and advanced instruments, primarily through direct visualization. This study aims to augment this conventional paradigm by introducing a parallel diagnostic procedure. Our objective is to harness a machine-learning algorithm designed to discern intricate patterns within patients' voice recordings to distinguish not only between healthy and hoarse voices but also among various specific disorders.
View Article and Find Full Text PDFJ Neurol
December 2024
Parkinson's Disease and Movement Disorders Institute, Department of Neurology, Weill Cornell Medicine, New York, NY, 10021, USA.
Parkinsonism Relat Disord
December 2024
Department of Neurology, Mayo Clinic, 13400 East Shea Blvd, Scottsdale, AZ, 85259, USA. Electronic address:
Introduction: Recent new advances in myoclonus characterization and etiology justify an update of the 40-year-old respected classification of myoclonus proposed by Marsden, Hallett, and Fahn. New advances include genetic studies and clinical neurophysiology characterization.
Methods: The IAPRD appointed an expert panel to develop a new myoclonus classification.
Cureus
December 2024
Neurology, UT Health San Antonio, San Antonio, USA.
Autoimmune encephalitis is a disorder characterized by an autoantibody-mediated process that leads to brain inflammation. It is associated with neurological symptoms including cognitive issues, psychiatric problems, seizures, and autonomic dysfunctions. Anti-leucine-rich glioma-inactivated 1 limbic encephalitis (anti-LGI1 LE) is a rare type of autoimmune LE with a unique presentation, comprising neuropsychiatric disturbances, sleep disorders, and faciobrachial dystonic seizures (FBDS).
View Article and Find Full Text PDFNeurol Sci
December 2024
Department of Neurology, Post Graduate Institute of Medical Education and Research, Chandigarh, 160012, India.
Neurol Neurochir Pol
December 2024
Department of Affective Disorders, Jagiellonian University Medical College, Krakow, Poland.
Ophthalmic Plast Reconstr Surg
December 2024
Department of Ophthalmology, Shiley Eye Institute, Division of Oculofacial Plastic and Reconstructive Surgery, UC San Diego.
Benign essential blepharospasm is a focal dystonia characterized by involuntary contractions of the orbicularis oculi. Botulinum toxin type A injections are often first-line treatment, but patients may experience refractory symptoms or decreased response over time. DaxibotulinumtoxinA, a novel botulinum toxin type A product, has shown promise in cervical dystonia and facial rhytids but has not been previously reported for benign essential blepharospasm treatment.
View Article and Find Full Text PDFMov Disord Clin Pract
December 2024
Movement Disorders Center, Department of Neurology, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo (HC-FMUSP), São Paulo, Brazil.
Mov Disord Clin Pract
December 2024
Oxford Functional Neurosurgery, John Radcliffe Hospital, Oxford, UK.
J Mov Disord
December 2024
Center of Gerontology and Geriatrics, West China Hospital, Sichuan University, Chengdu, China.
Tremor Other Hyperkinet Mov (N Y)
December 2024
Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, Karnataka 560029, India.
Background: Dystonia is a common hyperkinetic movement disorder observed in various genetic, infective, drug-induced, and autoimmune disorders. Autoimmune disorders can present with isolated or combined acute or subacute dystonia. The pattern and approach to dystonia in autoimmune disorders are poorly described and have never been established in a structured manner.
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