Improvement of non-motor symptoms and quality of life after DBS stimulation for refractory dystonia: a one-year follow-up
Objective: To describe the non-motor symptoms (NMS) after Deep Brain Stimulation (DBS) surgery for refractory generalized inherited/idiopathic dystonia in a prospective study. Background: DBS is…GPi-DBS for KMT2B-associated dystonia: systematic review and meta-analysis
Objective: To determine the efficacy of pallidal stimulation and GPi-DBS in KMT2B-associated dystonia. Background: Early evidence suggests good response to pallidal stimulation in KMT2B dystonia,…The feasibility of using an internet-based cognitive behavioural therapy programme as an intervention for people diagnosed with adult-onset, focal, isolated, idiopathic cervical dystonia
Objective: To determine the feasibility of utilising a guided, internet-based, self-help cognitive behavioural therapy (CBT) programme for the management of psychiatric symptoms in patients with…Gait Dysfunction in Blepharospasm
Objective: Characterizing gait in blepharospasm patients. Background: Blepharospasm ranges from frequent blinking to forced eye closure potentially causing functional blindness that can impair walking. Gait…A National Data-Linkage Study of Incidence and Prevalence of Primary Dystonia
Objective: To determine the nationwide prevalence and incidence rates of primary dystonia in Wales. Background: The true prevalence and incidence of dystonia remains largely unknown…Non-Motor Symptoms in Cervical Dystonia Patients
Objective: to research the clinical and neurological features, non-motor states and quality of life in CD patients. Background: Cervical dystonia (CD) is a movement disorder…Late-onset Familial Segmental Dystonia with Novel GNAL Mutation
Objective: Report a unique onset of dystonia in family affected by tremor and segmental dystonia Background: Background: A 66-year-old woman of Norweigan descent presented with…Whole genome sequencing aids in diagnosing GCH1 dopa responsive dystonia in two Peruvian patients and influences medical management
Objective: To describe the clinical features and treatment response of two Peruvian patients with GHC1 dopa responsive dystonia diagnosed by whole genome sequencing. Background: Pathogenic variants in…A novel variant [c.2974G>A; (p.Asp992Asp)] of DYT/PARK-ATP1A3
Objective: To describe the clinical presentation of a novel likely pathogenic variant in ATP1A3. Background: Rapid onset dystonia-parkinsonism is related to mutations in ATP1A3 gene.…Diagnosis and management of Myoclonus Dystonia Syndrome: a Survey of the European Reference Network for Rare Neurological Diseases.
Objective: To evaluate the diagnostic and treatment strategies in Myoclonus Dystonia Syndrome (MDS) used by experts from the European Reference Network for rare neurological diseases…
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