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…Do We Agree? Patient and Clinician Ratings of Head Tremor in Isolated Cervical Dystonia
Objective: To compare patient and clinician assessments of head tremor (HT) presence and severity in isolated cervical dystonia (CD). Background: Over 50% of people with…Episodic Generalized Dystonia with Opisthotonus Posturing in Early Stages of Anoxic Brain Injury with Mild Degrees of Caudate Involvement
Objective: To report a rare case of episodic generalized dystonia with opisthotonus following anoxic brain injury, characterized by posterior limb of the internal capsule involvement…Screening for Genetic Forms in Non-focal Dystonia Patients in Russian Population.
Objective: To assess clinical spectrum of genetic forms of dystonia (GD) in a cohort of Russian patients with non-focal dystonia. Background: Dystonia is the third…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…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…Subacute Severe Dystonia in a 19-month Old Boy. A Case of Pediatric Stiff Person Syndrome (SPS)
Objective: To report a rare case of anti-GAD associated encephalitis with pediatric Stiff Person Syndrome (SPS) highlighting the need for broad investigations and extensive treatment.…Clinical and Genetic Profile of DYT-THAP1 in Asian Indian Patients
Objective: To describe the clinical and genetic profile of DYT-THAP1 in Asian Indian patients. Background: Variants in the thanatos-associated protein 1 (THAP1) gene are recognized…The Frontalis Behavioral Trick in Blepharospasm
Objective: To describe clinical features of the frontalis behavioral trick in blepharospasm. Background: Blepharospasm is a form of dystonia that is characterized by stereotyped, bilateral…The Effect of Body Position on Cortical and Peripheral Neurophysiology of Adductor-type Laryngeal Dystonia: A Pilot Study
Objective: To compare the effect of body position on CNS and PNS function and associated adductor-type laryngeal dystonia (AdLD) voice symptomatology. Background: Body position impacts…
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