Japanese family of dystonia related to GNAO1 pathogenic variant and systematic literature review
Objective: To present a young adolescent female with functional dystonia phenotype progressed to status dystonia/anarthria and mental confusion, even more molecular genetic of family members…Temporomandibular Joint Balancing Therapy for Cervical Dystonia: A Retrospective Study
Objective: Cervical dystonia lacks disease-modifying treatment, with therapies mainly providing symptom relief. Temporomandibular Joint Balancing Therapy (TBT) addresses TMJ-related postural issues and may improve symptoms.…A Snapshot on Advanced Therapies in Essential Tremor: Insights from a Neurology Survey
Objective: To explore whether recent developments in Essential Tremor (ET) and new advanced therapies have influenced clinical practice. Background: Recent advancements in the understanding of…Multidisciplinary Approach to Patients with Movement Disorders in Uzbekistan: A 2024 Review.
Objective: This study evaluates the impact of a multidisciplinary approach on the diagnosis, treatment, and management of MD in Uzbekistan, assessing advancements in 2024 and…CAPOS Phenotypic Spectrum: CAPOS, CAPOS+ and CAPOS- within the p.Glu831Lys Variant of the ATP1A3 gene. Case Report and Literature Review.
Objective: To describe and compare the clinical phenotype and frequency of symptom presentation of p.Glu831Lys variant associated syndrome within the ATP1A3 gene, adding the first…Waveform based analysis of cervical dystonia with tremor and essential tremor using a marker-less tracking algorithm with 2D-video: evaluation of sinusoidality and rhythmicity
Objective: This study aims to introduce a novel video-based waveform analysis to objectively measure two fundamental tremor characteristics—rhythmicity and sinusoidality. Background: Tremor is defined as…White Matter and Subcortical Alterations in Focal Dystonia: A MRI Study of Subtype-Specific Brain Changes
Objective: To assess structural brain alterations in patients with cervical dystonia (CD) and focal upper limb dystonia (ULD) relative to healthy controls, using MRI exploratory…Observations and Strategies for Improving Recruitment and Retention of Underrepresented Populations in Movement Disorders Clinical Research Trials Conducted in a Tertiary Research Site
Objective: To observe the improvement in one tertiary clinical site of the recruitment of underrepresented populations with a focus on the Asian demographic and note…Lighting the Torch: Dating the Most Common Recent Ancestor of the PINK1 p.L347P Variant Linked to Parkinson’s Disease in Pacific Populations
Objective: To determine the generational age of the most recent common ancestor (MRCA) of patients homozygous for PINK1 p.L347P, to 1) Test the hypothesis that…Pilot Study: Shear Wave Elastography as a Potential Biomarker in Task-Specific Dystonia
Objective: The purpose of this study was to explore shear wave elastography (SWE)’s ability to identify task-specific dystonic muscles by determining if muscle stiffness increased…
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