Unusual presentation of POLR3A-associated leukodystrophy – two cases reported
Objective: Presentation of two patients with different clinical manifestations of a POLR3A-related leukodystrophy (NM_007055.4) Background: POLR3A related leukodystrophy is an autosomal recessive disease caused by…Atypical Onset and Presentation of Rare DYT30-VPS16 Dystonia
Objective: To provide a description of a young patient with atypical onset and presentation of rare DYT30-VPS16 dystonia. Background: To date, 44 patients from 31…Radiographic Resolution without Clinical Improvement in Anti-Ri Rhombencephalitis
Objective: To report a case of Anti-Ri Rhombencephalitis presenting with subacute ophthalmoplegia, jaw dystonia, and gait ataxia with minimal clinical improvement despite radiographic resolution after…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…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…Rare DYT23 Dystonia, First Diagnosed Case in Ukraine
Objective: To provide a description of a patient with rare DYT23 dystonia. Background: DYT23 type dystonia is characterized by adult-onset, focal cervical dystonia typically manifesting…Unmasking Wilson Disease: Subacute Neurological Complications During the COVID-19 Pandemic
Objective: We present a case of Wilson's Disease (WD) triggered by a COVID-19 infection, characterized by subacute fluctuated generalized dystonia, chorea/ballism, spasmodic dysphonia and excessive…The Unique Clinical Profile of Dystonia in Parkinson Disease
Objective: Characterize clinical features of dystonia and levodopa-related dyskinesias in Parkinson disease (PD). Background: Dystonia affects 30-60% of individuals with PD. [1] Despite recognition as…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…
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