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…Two Cases of SCN4A Temperature-Sensitive Sodium Channelopathy: From Dystonia to Myotonia
Objective: To evaluate whether these symptoms, previously categorized as dystonic, might represent manifestations of a temperature-sensitive channelopathy with myotonic features [1]. Background: We report two…Effect of Long-Term Deep Brain Stimulation in BLC11B-related Dystonia
Objective: To evaluate effect of deep brain stimulation (DBS) in patients with BCL11B-related dystonia. Background: BLC11B-related disorder is a rare neurodevelopmental disorder, that has been…Juvenile parkinsonism masquerading as hereditary spastic paraplegia
Objective: To present a patient with juvenile parkinsonism initially presented with billateral foot dystonia and inreased deep tendon reflexes. Background: Patients with juvenile parkinsonism may…Dystonia as a Rare Manifestation of POLG-Related Disease: A Case Report
Objective: We present a case of a patient with a history of recurrent stroke-like lesions, epilepsy, and progressive generalized dystonia with dystonic tremor secondary to…The application of Deep Brain Stimulation in KMT2B dystonia: Two cases with different targets
Objective: To report the clinical outcomes of two patients with KMT2B medically refractory dystonia who underwent bilateral deep brain stimulation (DBS) with different targets: subthalamic…Expanding the Phenotypic Spectrum of CACNA1A Variants: A Single-Center Experience
Objective: This study aims to describe pediatric patients with CACNA1A variants, detailing the clinical phenotype, with emphasis on the movement phenomenologies, genetic variants, electrophysiological and…From syndrome to genetics: Genetic Etiologies of Dystonia with Anarthria/Aphonia
Objective: This study provides a comprehensive list of genetic causes in a large cohort of 53 pediatric and adult patients with dystonia and anarthria or…Screening for Genetic Forms in Non-focal Dystonia Patients in Russian Population.
Objective: To assess clinical spectrum of genetic forms of dystonia (GD) in a cohort of Russian patients with non-focal dystonia. Background: Dystonia is the third…GNAI1-Associated Childhood-Onset Hyperkinetic Movement Disorder: A Case Report
Objective: To describe the clinical presentation, diagnostic evaluation, and genetic findings in a 7-year-old male with a hyperkinetic movement disorder associated with a novel GNAI1…
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