Aromatic L-amino acid decarboxylase deficiency: A rare disease case report and literature review
Objective: We review the presentation of a 3-month-old patient who came to our institution with symptoms of dystonia, oculogyric crises, hypotonia, developmental delay, and dysphagia,…Sleep in adult-onset idiopathic focal cervical dystonia (AOIFCD): an evaluation using self-reported and accelerometer derived measures
Objective: To identify sleep disturbances amongst individuals diagnosed with AOIFCD using wrist-worn accelerometers and subjective electronic questionnaires. Background: Up to 70% of individuals diagnosed with…Movement disorder practice in a rural setting: challenges and opportunities and utility of telemedicine
Objective: To describe the experience of a movement disorder practice in a rural setting, the role of telehealth and the conditions diagnosed and managed Background:…Combined dystonia in a patient carrying a novel ATL1 gene variant.
Objective: To describe a patient with a childhood-onset combined dystonia who was found to be a carrier of a novel mutation in the ATL1 gene.…What do medical students know about dystonia? Results before and after a brief educational intervention.
Objective: To assess medical student knowledge of dystonia, and their confidence to recognise a case, before and after a brief educational intervention. Background: Dystonia remains…Hemichorea and contralateral hemidystonia after acute stroke
Objective: To describe an unusual presentation of poststroke movement disorders. Background: Movement disorders occur uncommonly in association with stroke (1%), despite the frequent involvement of…Classifying pain in dystonia: a way to improve pain outcome measure in dystonia.
Objective: To improve the classification system for pain in dystonia. Background: Pain is a frequent and incapacitating non-motor symptom in dystonia. Evidence indicates that pain…Clinical epidemiology of movement disorders in Douala General Hospital, Cameroon: A two years retrospective study
Objective: The aim of this study was to determine the frequency of movement disorders and their characteristics in the outpatient department of neurology at the…The Cognitive Features of Idiopathic Cervical Dystonia: a cross-sectional study
Objective: To investigate the cognitive performance and the neuropsychiatric profile of patients with idiopathic adult-onset cervical dystonia (CD), to determine the occurrence of neuropsychiatric abnormalities…A case of YY1-related isolated dystonia with severe oromandibular involvement
Objective: 0 Background: Introduction: YY1 disease-causing variants are responsible for Grabiele-de-Vries syndrome, an autosomal dominant condition characterized by psychomotor developmental (PD) delay, cognitive impairment, facial dysmorphism…
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