Results 71 to 80 of about 4,292 (213)

Instrumented assessment of motor function in dyskinetic cerebral palsy: a systematic review

Journal of NeuroEngineering and Rehabilitation, 2020
Background In this systematic review we investigate which instrumented measurements are available to assess motor impairments, related activity limitations and participation restrictions in children and young adults with dyskinetic cerebral palsy. We aim
Helga Haberfehlner, Marije Goudriaan, Laura A. Bonouvrié, Elise P. Jansma, Jaap Harlaar, R. Jeroen Vermeulen, Marjolein M. van der Krogt, Annemieke I. Buizer   +7 more
doaj   +1 more source

Is arthrodesis the end in spastic hip disease?

Journal of Pediatric Rehabilitation Medicine, 2011
Introduction: The purpose of this study was to evaluate the long term results of 19 painful dislocated hips in patients with spastic cerebral palsy (CP) who were treated with hip arthrodesis and internal fixation. Patients and Methods: The study included
P.M.M.B. Fucs, C. Svartman, R.M.C. Assumpção, H.H. Yamada, D.R. Rancan   +4 more
doaj   +1 more source

Holmes Tremor with Dystonia after Parietal and Premotor Ischemic Stroke in an Essential Tremor Patient: A Case Report

Movement Disorders Clinical Practice, EarlyView.
Luca Angelini, Rick C.G. Helmich
wiley   +1 more source

Development and Preliminary Validation of a Parkinsonism‐Dystonia Scale for Infants and Young Children

Movement Disorders, Volume 40, Issue 8, Page 1669-1679, August 2025.
Abstract Background Parkinsonism in infancy is rare and is highly correlated with the presence of dystonia. Advances in treating and characterizing developmental and infantile degenerative parkinsonism have highlighted the need for a specialized assessment scale.
Roser Pons, Toni S. Pearson, Belen Perez‐Dueñas, Angels Garcia‐Cazorla, Manju A. Kurian, Zoi Dalivigka, Vasiliki Zouvelou, Chrysa Outsika, Eleftheria Kokkinou, Maria Sigatullina‐Bondarenko, Alejandra Darling, Maria del Mar O'Callaghan, Robert Spaull, Dora B.D. Steel, Evdokia Salamou, Maria João Forjaz, Carmen Rodriguez‐Blazquez   +16 more
wiley   +1 more source

Athetosis in Typhoid Fever [PDF]

Journal of the Royal Army Medical Corps, 1986
A case of typhoid fever with neuropsychiatric features is described. These comprised confusion and delirium, meningism, a single major convulsion and bilateral athetoic movements. Athetosis has not previously been described in typhoid fever and must now be added to the long list of neuropsychiatric manifestations of this disease.
openaire   +2 more sources

FTH1‐Related Neuroferritinopathy: A Rare Form of Neurodegeneration with Brain Iron Accumulation Mimicking Pontocerebellar Hypoplasia

Movement Disorders Clinical Practice, EarlyView.
Sayoni Roy Chowdhury, Sangeetha Yoganathan, Vivek Pai, Andrea LeBlanc‐Millar, Vann Chau, Roberto Mendoza‐Londono, Lucie Dupuis, Carolina Gorodetsky   +7 more
wiley   +1 more source

Investigating the Utility of Leukocyte Sialic Acid Measurements in Lysosomal Free Sialic Acid Storage Disorder

JIMD Reports, Volume 66, Issue 4, July 2025.
Schematic illustrating the study design and key findings. Figure created in Biorender.com. ABSTRACT Lysosomal free sialic acid storage disorder (FSASD) is a rare, multisystem neurodegenerative disease caused by biallelic pathogenic variants in SLC17A5, encoding sialin.
Marya S. Sabir, Laura Pollard, Lynne Wolfe, David R. Adams, Carla Ciccone, Petcharat Leoyklang, Frances M. Platt, Marjan Huizing, William A. Gahl, May Christine V. Malicdan   +9 more
wiley   +1 more source

Patients with Allan‐Herndon‐Dudley Syndrome (MCT8 Deficiency) Display Symptoms of Parkinsonism in Childhood and Respond to Levodopa/Carbidopa Treatment

Movement Disorders, Volume 40, Issue 5, Page 938-949, May 2025.
Abstract Background Patients with mutations in the monocarboxylate transporter 8 (MCT8, SLC16A2) suffer from X‐linked recessive Allan‐Herndon‐Dudley syndrome (AHDS), which is characterized by developmental delay and a severe movement disorder. Current trials using thyroid hormone derivatives to overcome the transporter defect have failed to achieve ...
Nina‐Maria Wilpert, Angela L. Hewitt, Roser Pons, Marie‐Thérèse Henke, Andrea Dell'Orco, Martin Bauer, Christiane Grolik, Stephan Menz, Monika Wahle, Annika Zink, Alessandro Prigione, Christina Reinauer, Catharina Lange, Christian Furth, Knut Brockmann, Sabine Jung‐Klawitter, Stine Christ, Angela M. Kaindl, Anna Tietze, Heiko Krude, Thomas Opladen, Markus Schuelke   +21 more
wiley   +1 more source

An X‐Linked Ataxia Syndrome in a Family with Hearing Loss Associated with a Novel Variant in the BCAP31 Gene

Movement Disorders, Volume 40, Issue 4, Page 672-682, April 2025.
Abstract Objective Pathogenic variants in B‐cell receptor‐associated protein (BCAP31) are associated with X‐linked, deafness, dystonia and cerebral hypomyelination (DDCH) syndrome. DDCH is congenital and non‐progressive, featuring severe intellectual disability (ID), variable dysmorphism, and sometimes associated with shortened survival. BCAP31 encodes
Martin Paucar, Tianyi Li, Åsa Bergendal, Irina Savitcheva, Kaveh Pourhamidi, José M. Laffita‐Mesa, Ann Nordgren, Martin Engvall, Per Uhlén, Kristina Lagerstedt‐Robinson, Per Svenningsson   +10 more
wiley   +1 more source

Expanding the Clinical and Genetic Spectrum of Mitochondrial Short‐Chain Enoyl‐CoA Hydratase 1 Deficiency: Insights From Two Unrelated Chinese Families

Molecular Genetics &Genomic Medicine, Volume 13, Issue 4, April 2025.
Mitochondrial short‐chain enoyl‐CoA hydratase 1 deficiency (ECHS1D) is a rare genetic disorder caused by mutations in the ECHS1 gene. Two Chinese families with inborn errors of metabolism were diagnosed using whole‐exome sequencing, revealing one novel variant (c.759_762del, p.Gly255Valfs*21) in the ECHS1 gene.
Jihua Wu, Xuehui Hu, Zhongli Zhao, Zhen Zhao, Bin Yang   +4 more
wiley   +1 more source