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…A novel ANO3 variant associated with generalized dystonia in an elderly woman
Objective: To report a case of dystonia that adds to the growing body of literature regarding the genotypic variants associated with the ANO3 gene implicated…MDSGene systematic review on dopa-responsive dystonia caused by mutations in GCH1, TH, SPR, PTS, or QDPR
Objective: To systematically review information regarding genotype, phenotype, and biochemistry in dopa-responsive dystonia (DRD). Background: To date, five causative genes (GCH1, TH, SPR, PTS, and…De-novo ß-actin mutation as a cause of seemingly sporadic dystonia-deafness syndrome responsive to deep-brain stimulation
Objective: To elucidate the cause of dystonia and deafness in a 37-year-old woman and to evaluate the response to deep brain stimulation (DBS). Background: Dystonia-deafness…KMT2B-related dystonia (DYT28) and Klippel-Feil Syndrome: A new association?
Objective: To report the association of lysine-specific histone-methyltransferase 2B gene (KMT2B)-related dystonia (DYT28) and Klippel-Feil Syndrome (KFS). Background: Dystonia is a hyperkinetic movement disorder characterized…
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