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…A Head-Turning Case of SCA10 with Dystonia
Objective: Present a SCA10 patient presenting with rare phenomenology of dystonia in addition to ataxia. Background: The spinocerebellar ataxias (SCAs) are a heterogenous group of…Improving Work Up amongst Patients with Rare Movement Disorders according to Diagnostic Yield Findings– Update from Single Center Neurogenetic Clinic
Objective: We present the genetic testing diagnostic yield in a tertiary center Neurogenetic Clinic, focusing on rare movement disorders. Background: The diagnostic yield of genetic…Prevalence of Heterozygous ATP7B Mutation in Patients with Movement Symptoms
Objective: The objective of our study is to elucidate the prevalence of heterozygous ATP7B mutation in patients with movement symptoms. We aim to determine whether…Bi-allelic BORCS5 Variants Result In A Wide Spectrum of Progressive Neurodevelopmental Disorders via Lysosomal Dysfunction
Objective: To characterize a new brain disorder associated with BORCS5 variants, elucidating their effect on lysosomal distribution and activity Background: BORCS5 encodes a subunit of…Spinocerebellar Ataxia Type 49 presenting with Early onset Dystonia-Ataxia in an Indian Female
Objective: To report the first Indian patient with SCA 49 who presented in the second decade and to expand the clinical phenotype to include dystonic…
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