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…Analysis of dystonia and rating scales in children and young adults with SGCE myoclonus dystonia
Objective: The aim of this study was to analyze the clinical characteristics of dystonia (Axis I) and to explore rating tools for writing, walking and running…Dystonia gravidarum: An emerging clinical entity
Objective: We describe a case of cervical dystonia in a 36 year-old, secundigravid, Caucasian woman at 8 weeks gestation. Background: Though uncommon, primary movement disorders…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.…Post-stroke dystonia: Three unique cases
Objective: Describing 3 unique post-stroke dystonia cases. Background: Dystonia, the 2nd most common post-stroke movement disorder, presents commonly contralateral to the lesion, focally, and 9.5…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…Clinical heterogeneity of DYT-KMT2B mutation in a family with monozygotic twins
Objective: We describe the clinical heterogeneity of a Danish family with complex dystonia and a variant in KMT2B not previously reported. Background: Heterozygous mutations in…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,…Deep Brain Stimulation in Confirmed Genetic Dystonias: A Comprehensive Review
Objective: Review DBS benefit in genetically confirmed dystonias. Background: Deep brain stimulation (DBS) is an established option for genetic dystonias such as DYT-1. While literature…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…
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