Phenotypic Spectrum of Movement Disorders in TBC1D24 Gene Variants: A Case Series
Objective: To report the phenotypic spectrum of movement disorders in 5 pediatric patients with TBC1D24 gene variants and provide accompanying video. Background: The TBC1D24 gene…A better understanding of Paediatric Paroxysmal Movement Disorders
Objective: To clinically characterise paroxysmal movement disorders (PxMD) and determine prevalence in a paediatric population for the first time. Background: Characterised by episodic involuntary movements,…Clinical and genetic features of paroxysmal kinesigenic dyskinesia (PKD) studied with whole exome sequencing (WES)
Objective: We aim to investigate the clinical and genetic features of PKD in a large cohort of patients in with WES. Background: PKD is a…Development of a Paroxysmal Movement Disorder Diary for Patients with Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS)
Objective: To perform qualitative research to develop and establish content validity of a new clinical outcome assessment (COA) instrument for paroxysmal movement disorders in Glut1…Assessments of Movement Disorder Symptoms and Functional Impacts in Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS)
Objective: To identify Clinical Outcome Assessments (COAs) appropriate for the evaluation of paroxysmal movement disorder symptoms and functional impact in Glut1 DS. Background: Glut1 DS…Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency
Objective: To describe a family with two siblings affected by different dystonic disorders as a resulting phenotype of ECHS1 mutations. Background: ECHS1 encodes a mitochondrial…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.