Action-Induced Dystonic Opisthotonus as an Atypical Presentation in Ataxia Telangiectasia
Objective: We present a rare case of Ataxia-telangiectasia (AT) characterized by intermittent action-induced dystonic opisthotonus causing frequent vomiting after meals intake [figure1]. Background: AT is…Phenotypic spectrum and response to deep brain stimulation (DBS) in patients with dystonia due to variants in the KMT2B gene: A description of six Chilean cases
Objective: This study aims to characterize the phenotypic spectrum and therapeutic responses to Deep Brain Stimulation (DBS) in Chilean patients diagnosed with dystonia due to…Updates on Perception of Patients with Cervical Dystonia in Residents and Medical Students
Objective: To determine if an educational intervention can reduce external stigma of patients with cervical dystonia (CD) in medical trainees. Background: Medical trainees may or…Hemiplegic Migraine Masquerading as Dystonia
Objective: To identify the myriad ways migraine can present, including with muscle spasm(s) that can appear to be dystonia and thus serve to make this…Cerebellar connectivity predicts early response to GPi-DBS in dystonia.
Objective: To investigate the structural and functional connectivity of patients who respond early after deep brain stimulation (DBS) for dystonia. Background: DBS is an effective…Wearable Sensor-Based Assessment of Lower Extremity Dystonia in X-linked Dystonia Parkinsonism
Objective: To develop a sensor-based pipeline to identify lower limb dystonic features in X-linked dystonia parkinsonism (XDP). Background: XDP is a rare neurogenetic combined movement…Case Report: An Atypical Presentation of Runner’s Dystonia
Objective: N/A Background: Runner’s dystonia (RD) is a rare adult-onset focal limb task-specific dystonia. Most predominant phenotype of RD is reported to be dystonic foot…Tyrosine Hydroxylase Deficiency and Absence Epilepsy: An Association or Mere Coincidence?
Objective: To explore the possible relationship between tyrosine hydroxylase deficiency (THD) and absence epilepsy, with a specific focus on the role of dopamine in the…Telehealth Follow-up for Craniofacial Dystonias Treated with Neurotoxin Injection: Physician Outcomes
Objective: To evaluate the potential benefits of a post-injection telehealth follow-up visit for people with craniofacial dystonia. Background: Craniofacial dystonias, including blepharospasm and oromandibular dystonia,…Preservation of Putamen Volume with Aging in Cervical Dystonia, not other focal dystonia subtypes: A Cross-Sectional Neuroimaging Study
Objective: To investigate whether focal dystonia is associated with altered structural age-related changes in the putamen compared to healthy controls and across dystonia subtypes. Background:…
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