A Novel Bedside Clinical Test (“Vibration” Sign) Improves Diagnostic Differentiation of Functional Movement Disorders: A Prospective Pilot Study
Objective: To assess the diagnostic accuracy, inter-rater reliability, and clinical feasibility of the “vibration” sign for identifying Functional Movement Disorders (FMD). Background: FMD account for…Familial Myoclonus-Dystonia Associated with SGCE Variant in a Chinese Family: Clinical and Genetic Characterization of Two Siblings
Objective: To report a familial case of Myoclonus-Dystonia Syndrome caused by an SGCE splice-site variant, highlighting the classic maternal imprinting mechanism and the clinical diagnostic…Adult-Onset Opsoclonus-Myoclonus-Ataxia Syndrome Associated with West Nile Virus Mimicking a Functional Movement Disorder
Objective: To report a rare presentation of adult-onset opsoclonus-myoclonus-ataxia syndrome (OMAS) after West Nile virus infection, highlighting the overlap between OMAS semiology and functional movement…Post-COVID Movement Disorders: Clinical Spectrum and Mechanisms A Systematic Review
Objective: To synthesize published evidence describing the clinical spectrum and proposed mechanisms of movement disorders occurring after infection with SARS-CoV-2. Background: Neurological complications have been…Rare Neurotoxicity of Cotrimoxazole A Movement Disorder Presentation In Elderly Patient
Objective: We report the case of an elderly woman with hyperkinetic movement disorders Background: Trimethoprim-sulfamethoxazole (TMP-SMX) is widely used for Pneumocystis jirovecii prophylaxis, but significant neurological toxicity…Partial Duplication of NBEA in a Patient Presenting Chorea with Incomplete Penetrance
Objective: To report a novel genotype-phenotype correlation involving a partial duplication of the NBEA gene in a patient presenting with chorea. Background: NBEA has been identified as…Movement Disorders Associated with Infections in Immunocompromised Non-HIV Patients: A Systematic Review
Objective: To identify the most frequent movement disorders and their clinical features, as well as the most common infectious etiologies in immunocompromised non-HIV patients, based…Automated Facial Movement Analysis for Differentiating True Hemifacial Spasm from Mimicking Facial Movements: A Pilot Study
Objective: To evaluate the feasibility of artificial intelligence (AI) for identifying true hemifacial spasm (HFS) from mimicking facial movements. Background: Diagnosis of HFS typically relies…Adult-Onset Alexander Disease with Paroxysmal Myoclonus-Like Episodes and a Novel GFAP Variant
Objective: To report an atypical case of suspected adult-onset Alexander disease presenting with unusual myoclonus-like episodes and progressive spastic gait, associated with a novel GFAP…Dyskinesia-Hyperpyrexia Syndrome Mimicking a Generalized Seizure in Parkinson’s Disease
Objective: To report a rare case of DHS that was initially misdiagnosed as generalized seizures. Background: Parkinson’s disease (PD) is a progressive neurodegenerative disorder with…
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