De novo mutation in TMEM151A and Paroxysmal Kinesigenic Dyskinesia
Objective: To confirm the association between TMEM151A mutation and paroxysmal kinesigenic dyskinesia. Background: Heterozygous mutations in TMEM151A, encoding a protein of undetermined function, have been…Application of Goal Attainment Scale as a patient-centered assessment for cervical dystonia
Objective: To explore the goal attainment scale (GAS) by interviewing the three most disturbing problems and changes after Botulinum toxin A injection in cervical dystonia…Botulinum Toxin Outcomes in Patients with Lower Limb Dystonia
Objective: To assess botulinum toxin outcomes in patients with lower limb dystonia. Background: One of the most effective treatments for dystonia is botulinum toxin (BoNT)…Development of a patient journey map for people living with cervical dystonia
Objective: As part of the ongoing European Reference Networks for Rare Neurological Diseases (ERN-RND) program, we aimed to develop a cervical dystonia patient journey map…Electrophysiological analysis of tremor in patients with writer’s cramp
Objective: To define the electrophysiological characteristics of tremor in patients with writer’s cramp. Background: Writer's cramp is a common form of focal, task-specific dystonia which…Lower-limb dystonia as an explanation for freezing of gait responsive to cueing in Parkinson’s Disease
Objective: We aimed to search the literature for a potential association between freezing of gait (FOG) with cueing and dystonia with sensory tricks in Parkinson’s…Co-contractions as a Biomarker for DBS Efficacy in Dystonia
Objective: Deep brain stimulation of the globus pallidus interna (GPi-DBS) is a treatment option for medication-refractory dystonia. However, the clinical outcome after DBS-GPi is variable,…Association of accelerometer-derived sleep and idiopathic dystonia: A UK Biobank cohort study
Objective: To assess the rate and nature of sleep disturbances in dystonia, and to examine the extent to which disturbance to sleep is associated with…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…
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