Rapid Onset Progressive Dystonia with Parkinsonism
Objective: To illustrate a case of a patient presenting with oromandibular dystonia with blepharospasm (Meige syndrome) and progressing to a segmental dystonia with parkinsonism. This…Wearable Sensor-Based Assessment of Lower Extremity Dystonia in X-linked Dystonia Parkinsonism
Objective: To develop a sensor-based pipeline to identify lower limb dystonic features in X-linked dystonia parkinsonism (XDP). Background: XDP is a rare neurogenetic combined movement…Insights into Myoclonus Dystonia from an Indian movement disorder clinic
Objective: To describe the clinical profile, etiology and treatment profile of myoclonus dystonia patients attending a single movement disorder clinic. Background: Myoclonus-dystonia (MD) is a…Phenotypic spectrum and response to deep brain stimulation (DBS) in patients with dystonia due to variants in the KMT2B gene: A description of six Chilean cases
Objective: This study aims to characterize the phenotypic spectrum and therapeutic responses to Deep Brain Stimulation (DBS) in Chilean patients diagnosed with dystonia due to…Clinical and Genetic Characteristics of PLA2G6-parkinsonism in Southwest China and a Comprehensive Literature Review
Objective: To comprehensively characterize the clinical, imaging and genetic features of PLA2G6-related parkinsonism. Background: Biallelic PLA2G6 mutations are associated with early-onset autosomal recessive parkinsonism, exhibiting a…Dystonic Tremor as a Prognostic Marker of Deep Brain Stimulation Success in Cervical Dystonia
Objective: This study aims to evaluate the prognostic significance of dystonic tremor in CD patients undergoing DBS. Specifically, we analyze whether the presence of preoperative…The Vodka Trial: Clinical and Genetic Characteristics of Alcohol Responsiveness in Laryngeal Dystonia
Objective: To determine the objective characteristics of alcohol responsiveness in laryngeal dystonia (LD) using a standardized alcohol challenge test and genetic testing. Background: LD is…Quality of life measurement in patients with generalized dystonia who underwent deep brain stimulation treatment.
Objective: To measure the improvement in perceived Quality of Life (QoL) in patients who underwent to DBS placement. Background: Generalized dystonias are characterized by sustained…Underlying Diseases in a Patient with Upper Limb Clumsiness Suspected of Corticobasal Degeneration
Objective: This study aims to review the case of a patient with suspected corticobasal syndrome (CBS) who presented with upper limb clumsiness, and to discuss…Tremor Predominant Presentation Of DYT-TOR1A
Objective: To present a case report of a patient exhibiting tremors as the primary manifestation of DYT-TOR1A at onset, along with a review of the…
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