Case Report of a Brazilian Family With New VUS for PLAN
Objective: The aim is to describe a Brazilian family with new VUS of PLA2G6 in two brothers with clinical symptoms of PLAN. Background: PLAN is…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…The Trembling Descent: Down the Stairs Dystonia in Galactosemia
Objective: To describe a unique case of multifocal dystonia in a young adult with classic galactosemia, emphasizing clinical presentation, progression, and management. Background: Classic galactosemia…Insights into Myoclonus Dystonia from an Indian movement disorder clinic
Objective: To describe the clinical profile, etiology and treatment profile of myoclonus dystonia patients attending a single movement disorder clinic. Background: Myoclonus-dystonia (MD) is a…When Dystonia mimics Multiple Sclerosis : A Familial case series of GCH1 misdiagnosis
Objective: To describe phenotypic variability associated with a GCH1 mutation and increase clinical suspicion in patients with atypical phenotypes. Background: Dopa-responsive dystonia (DRD) is a genetic disorder most commonly…The Vodka Trial: Clinical and Genetic Characteristics of Alcohol Responsiveness in Laryngeal Dystonia
Objective: To determine the objective characteristics of alcohol responsiveness in laryngeal dystonia (LD) using a standardized alcohol challenge test and genetic testing. Background: LD is…Rapid Onset Progressive Dystonia with Parkinsonism
Objective: To illustrate a case of a patient presenting with oromandibular dystonia with blepharospasm (Meige syndrome) and progressing to a segmental dystonia with parkinsonism. This…Two Cases of SCN4A Temperature-Sensitive Sodium Channelopathy: From Dystonia to Myotonia
Objective: To evaluate whether these symptoms, previously categorized as dystonic, might represent manifestations of a temperature-sensitive channelopathy with myotonic features [1]. Background: We report two…Effect of Long-Term Deep Brain Stimulation in BLC11B-related Dystonia
Objective: To evaluate effect of deep brain stimulation (DBS) in patients with BCL11B-related dystonia. Background: BLC11B-related disorder is a rare neurodevelopmental disorder, that has been…Juvenile parkinsonism masquerading as hereditary spastic paraplegia
Objective: To present a patient with juvenile parkinsonism initially presented with billateral foot dystonia and inreased deep tendon reflexes. Background: Patients with juvenile parkinsonism may…
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