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,…Epidemiological, clinical and paraclinical characteristics of paroxysmal dystonia in multiple sclerosis : A study of Tunisian cohort
Objective: To describe the specificities of paroxysmal dystonia (PD) in a cohort of Tunisian Multiple Sclerosis (MS). Background: Movements disorders are uncommon in multiple sclerosis.…Paroxysmal Kinesigenic Dyskinesia caused by a novel missense variant in NBEA
Objective: We describe a patient who presented to our movement disorder center for unilateral dystonic spells which last seconds and triggered by sudden movements. Genetic…PRRT2 paroxysmal dyskinesia mimicking functional motor disorders: a pediatric case.
Objective: This report highlights how challenging the differential diagnosis between organic and functional motor disorders may be. Indeed, atypical presentations and overlapping features of movement…Paroxysmal dystonia with phenotypic variability in ECHS1 mutation twin carriers
Objective: To describe 2 monozygotic twins carrying biallelic ECHS1 mutations with different clinical phenotypes Background: ECHS1 encodes for a mitochondrial short chain enoyl-CoA hydratase, a…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…Atypical alternating hemiplegia of childhood in Korea: A case report
Objective: To report an atypical case of alternating hemiplegia of childhood (AHC), which has not yet been reported in Korea. Background: The ATP1A3 gene pathologic…Postural Instability Assessed by Static and Dynamic Posturography in the Early Stage of Parkinson’s Disease
Objective: The early stage of Parkinson’s disease (PD) (Hoehn-Yahr (HY) I-II stages) is characterized by a negative pull test, which clinically excludes postural instability. Previous…Paroxysmal asymmetric dystonic arm posturing – a less recognised but characteristic manifestation of ATP1A3-related disease
Objective: To highlight a less recognised but characteristic manifestation of ATP1A3-related disease. Background: ATP1A3 mutations cause a wide clinical spectrum, and are one of the…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…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.