Expanding the Spectrum of Non Motor Symptoms in Dystonia: Focus on Autonomic Signs and Pain
Objective: To assess autonomic nervous system (ANS) involvement and pain prevalence among non-motor symptoms (NMS) in different types of dystonia Background: Prevalence and functional impact…An observational study of segmental and generalized isolated dystonia to inform development of new drug therapies
Objective: The goal of this study is to characterize severity and variability of symptoms in people with segmental, multifocal, or generalized isolated dystonia. Standardized data…Uncovering novel genomic alterations in dystonia using gene burden analysis
Objective: To identify genomic alterations that are over-represented in the Indian dystonia cohort using gene burden analysis of rare variants. Background: Dystonia is a complex…Power Spectral Density Increases Covary with Clinical Overstimulation During Dystonia Deep Brain Stimulation Programming
Objective: To assess the role of local field potential (LFP) as an acute biomarker of maximal tolerable stimulation (MTS) in dystonia patients. Background: Dystonia is…Basal Ganglia Germinoma (BGG) Presenting as Hemidystonia
Objective: We describe an unusual case of progressive right-sided hemidystonia with accompanying imaging and video. Background: Intracranial germinomas most often arise from midline structures, but…Atypical Phenotype of SORL1-Associated Early-Onset Alzheimer’s Disease With Oromandibular and Cervical Dystonia
Objective: We present a case of early-onset Alzheimer’s disease associated with a mutation in the SORL1 gene accompanied by extrapyramidal symptoms, including oromandibular and cervical…Investigating Cerebellar Network Alterations in Musician’s Dystonia
Objective: To determine whether musician’s dystonia (MD) is associated with abnormal cerebellar–cortical functional connectivity and whether cerebellar continuous theta burst stimulation (cTBS) can modulate these…The Clinical Profile and Management outcomes of Early-Onset Dystonia in a South African Population
Objective: To describe clinical presentations, diagnostic challenges and management outcomes of a series of early onset dystonia patients attending a neurology clinic in Northern Pretoria,…Functional Improvement Following Early GPi-DBS for Moderate-Stage Atypical KMT2B Dystonia: A Case Report in a 13-Year-Old Girl
Objective: To report clinical trajectory and functional improvement of a child with atypical KMT2B-related dystonia following bilateral GPi-DBS performed at a moderate disease stage. Background:…Phasic Hemidystonia Secondary to Cavernoma: A Case of Sustained Response to Botulinum Toxin
Objective: To report a rare case of lentiform nucleus cavernoma with phasic-predominant hemidystonia and sustained BoNT response. Background: Cerebral cavernomas rarely present with movement disorders.…
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