Results 11 to 20 of about 6,098 (248)

Home-Based Measurements of Dystonia in Cerebral Palsy Using Smartphone-Coupled Inertial Sensor Technology and Machine Learning: A Proof-of-Concept Study

Sensors, 2022
Accurate and reliable measurement of the severity of dystonia is essential for the indication, evaluation, monitoring and fine-tuning of treatments. Assessment of dystonia in children and adolescents with dyskinetic cerebral palsy (CP) is now commonly ...
Dylan den Hartog, Marjolein M. van der Krogt, Sven van der Burg, Ignazio Aleo, Johannes Gijsbers, Laura A. Bonouvrié, Jaap Harlaar, Annemieke I. Buizer, Helga Haberfehlner   +8 more
doaj   +1 more source

Reliability and Discriminative Validity of Wearable Sensors for the Quantification of Upper Limb Movement Disorders in Individuals with Dyskinetic Cerebral Palsy

Sensors, 2023
Background—Movement patterns in dyskinetic cerebral palsy (DCP) are characterized by abnormal postures and involuntary movements. Current evaluation tools in DCP are subjective and time-consuming. Sensors could yield objective information on pathological
Inti Vanmechelen, Saranda Bekteshi, Helga Haberfehlner, Hilde Feys, Kaat Desloovere, Jean-Marie Aerts, Elegast Monbaliu   +6 more
doaj   +1 more source

Choreoathetosis in Alcoholism [PDF]

BMJ, 1970
J. M. Kellett
openaire   +2 more sources

Functional Characterization and Pathogenicity Classification of PRRT2 Splice Variants in PRRT2-Related Disorders. [PDF]

Ann Clin Transl Neurol
ABSTRACT Objective Paroxysmal kinesigenic dyskinesia (PKD) is the most common hereditary paroxysmal movement disorder. The PRRT2 gene is the first identified causative gene and accounts for the majority of PKD. In this study, we investigated the pathogenicity of PRRT2 variants in the splice regions. Methods Patients with clinically suspected PKD and no
Xu JJ, Chen YL, Sun WB, Li HF, Wu ZY, Chen DF.   +5 more
europepmc   +2 more sources

GNAO1 encephalopathy: broadening the phenotype and evaluating treatment and outcome [PDF]

, 2017
OBJECTIVE: To describe better the motor phenotype, molecular genetic features, and clinical course of GNAO1-related disease. METHODS: We reviewed clinical information, video recordings, and neuroimaging of a newly identified cohort of 7 patients ...
Bianchini, C, Carss, Kj, Dale, Rc, Danti, FEDERICA RACHELE, Galosi, Serena, Guerrini, R. 1., Kurian, Ma, Leuzzi, Vincenzo, Mahant, N, Mcshane, T, Mctague, A, Mohammad, Ss, Montomoli, M, Ng, J, Parrini, E, Raymond, Fl, Romani, M, Samanta, R, Shah, U, Vadlamani, G, Valente, Em   +20 more
core   +3 more sources

A patient with glucose transporter type 1 deficiency syndrome: Paroxysmal choreoathetosis and cerebral positron-emission tomography findings

Neurological Sciences and Neurophysiology, 2022
Glucose transporter type 1 deficiency syndrome (GLUT-1 DS) is an inborn error of metabolism that results in defective glucose transport and consequently a reduced supply of glucose to the brain.
Zuhal Yapici, Pinar Topaloğlu, Cuneyt Turkmen, Mefkure Eraksoy, Sameer Zuberi   +4 more
doaj   +1 more source

Service-based survey of dystonia in Munich [PDF]

, 2002
We performed a service-based epidemiological study of dystonia in Munich, Germany. Due to favourable referral and treatment patterns in the Munich area, we could provide confident data from dystonia patients seeking botulinum toxin treatment.
Ben-Shlomo, Y., Ceballos-Baumann, Andres, Conrad, B., Gasser, T., Kamm, C., Konkiewitz, E. C., Trender-Gerhard, I., Warner, T.   +7 more
core   +1 more source

a novel mutation with mild clinical presentation [PDF]

, 2015
Background A highly variable phenotype characterized by thyroid, respiratory and neurological defects has been reported in an already established group of disorders namely NKX2.1-related disorders.
Cantasano, Antonella, Cassio, Alessandra, Krude, Heiko, Monti, Sara, Nicoletti, Annalisa   +4 more
core   +1 more source

Movement Disorders Presenting in Childhood. [PDF]

, 2016
PURPOSE OF REVIEW: This article provides an overview of movement disorders that present in childhood. Key clinical features are discussed, and a brief guide to management strategies is provided.
Dale, RC, Kurian, MA
core   +1 more source

Gabapentin-Induced Choreoathetosis

Pediatric Neurology Briefs, 1997
Two institutionalized, severely retarded adults, aged 42 and 41, with intractable epilepsy, developed choreoathetosis within 14 days when gabapentin in dosages of 1200 to 1800 mg/d were added as adjunctive therapy to valproic acid or phenytoin, in a ...
J Gordon Millichap
doaj   +1 more source