Deep brain stimulation for the management of tremor in a child with Rett syndrome
Objective: We present a case of a girl with Rett syndrome and impairing intermittent tremor involving the trunk and extremities managed with bilateral VIM/posterior subthalamic…Management of tremor secondary to MORC2 related neurodevelopmental disorder with deep brain stimulation
Objective: We present a case of MORC2-related neurodevelopmental disorder in a child with impairing tremor successfully managed with bilateral VIM/posterior subthalamic area deep brain stimulation…A case of Bainbridge-Ropers syndrome in a child.
Objective: This study describe the clinical case of Bainbridge-Ropers syndrome caused by the ASXL3 gene mutation. Background: Bainbridge-Ropers syndrome is an autosomal dominant disorder typically…Effect of bilateral pallidal stimulation on quality of life of pediatric patients with dyskinetic cerebral palsy (STIM-CP): A prospective single-arm multicenter study with a subsequent randomized double-blind crossover phase
Objective: STIM-CP is a prospective single-arm multicenter study to investigate the effects of deep brain stimulation of the globus pallidus internus (GPi-DBS) in pediatric patients…Alternative Medications for Paroxysmal Kinesigenic Dyskinesia
Objective: Report the effectiveness of various medications in the treatment of paroxysmal kinesigenic dyskinesia (PKD). Background: PKD is an episodic movement disorder characterized by attacks…Genetic hypokinetic rigid syndrome: Clinical phenotypes from infancy to adolescence in a series of Chilean Patients
Objective: The aim of this study is to characterize child population with genetic early-onset parkinsonism. Background: Early forms of Parkinsonism have many distinctive features as…Spectrum of Movement disorders and Correlation with Functional Status in Children with Cerebral Palsy
Objective: We sought to detail the spectrum of movement disorders (MD) among children with cerebral palsy (CP) and assess impact on functional status. Background: Movement…Cellular Modeling of Tyrosine Hydroxylase Deficiency Recapitulates Patient Phenotypes and Response to Treatment.
Objective: Characterize a new cellular model of Tyrosine Hydroxylase deficiency (THD) based on induced pluripotent stem cells (iPSCs) to better understand the pathophysiology and test…MOVEMENT DISORDERS IN CHILDREN WITH ATP1A3 GENE MUTATIONS. A SERIES OF CHILEAN PATIENTS
Objective: Describe the most frequent abnormal movements, their association with other symptoms, and the response to treatment in 4 children with ATP1A3 gene mutations. Background:…Immune-mediated movement disorder as a Rare Manifestation of a Sarcoma
Objective: We describe a rare case of a young woman with an immune-mediated movement disorder (paraneoplastic Stiff Person Syndrome) associated with a mediastinal liposarcoma. This…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.