Results 71 to 80 of about 19,586 (243)
Severe Headbanging Responsive to Levodopa in a Child With FOXP1 Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT We report a 9‐year‐old female with FOXP1 syndrome due to a de novo in‐frame deletion in the FOXP1 gene. The child has a severe neurodevelopmental disorder including global developmental delay and autism spectrum disorder. At age 2, she developed severe headbanging, which was progressive and did not respond to multidisciplinary, behavioral ...
Pamela Veale +2 more
wiley +1 more source
DystoniaBackgroundFocal hand dystonia (FHD) is a rare and disabling movement disorder with limited treatment options. Transcranial magnetic stimulation (TMS) has shown promise as a non-invasive neuromodulation therapy for dystonia, but its efficacy in FHD ...
Zeynep B. Simsek +9 more
doaj +1 more source
DYSTONIA LENTICULARIS (DYSTONIA MUSCULORUM DEFORMANS)
Archives of Neurology And Psychiatry, 1920 The condition generally recognized as dystonia musculorum deformans, a name given it by Oppenheim, is of special interest at this time in view of the recent significant researches concerning the functions of the basal ganglia, especially of the nucleus lenticularis.
openaire +1 more source
Patient and Family Reported Clinical Picture of IRF2BPL‐Related Disorders
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT IRF2BPL‐related disorder is a neurodevelopmental disorder caused by heterozygous variants in the IRF2BPL (Interferon Regulatory Factor 2 Binding Protein‐Like) gene. The few reports available in the literature suggest that common symptoms include developmental delay, intellectual disability, and developmental regression.
Zoe Goldstone‐Joubert +4 more
wiley +1 more source
Assessing the digit organisation of focal hand dystonia using 7T functional MRI
DystoniaIntroductionFocal hand dystonia (FHD) is typically treated with Botulinum Toxin (BTX/BoNT-A/Botox/Onabotulinum Toxin Type A) injected into digit and wrist muscles to provide temporary symptomatic relief from muscle spasm.
Michael Asghar +12 more
doaj +1 more source
The Neurophysiology of Dystonia [PDF]
Archives of Neurology, 1998 Any model for the physiology of dystonia must be able to explain how dystonia can be produced in various circumstances. Brain lesions can cause dystonia; responsible sites include the basal ganglia, brainstem, and thalamus, but the most common site is the putamen.
openaire +2 more sources
Annals of Neurology, EarlyView.Objective Initially described in 1976, X‐linked dystonia parkinsonism (XDP) is a neurodegenerative disease that can be characterized by the presentation of dystonia and parkinsonism symptoms. Although this disease bears some resemblance to other neurodegenerative diseases in terms of symptomatology, the pathological signature of XDP is still unclear ...
Adelie Y.S. Tan +19 more
wiley +1 more source
Cortical Thickness and White Matter Surface Morphology in Tourette Syndrome: A Cohort Study
Annals of Neurology, EarlyView.Objective To examine cortical thickness and white matter surface morphology in a large sample of individuals with Tourette syndrome (TS) and neurotypical controls across the lifespan, and to assess associations with symptom severity, comorbidities, and medication use.
Sahar Delavari +8 more
wiley +1 more source
Paediatric clonidine medication errors: Findings from a multicentre French study
British Journal of Clinical Pharmacology, EarlyView.Aims This study aimed to describe the characteristics of medication errors involving clonidine in paediatric patients and reported to French Network of Pharmacovigilance and Poison Control Centres. Methods This retrospective observational study analysed clonidine‐related medication errors reported between 1985 and June 2024 in patients under 12 years ...
Eve‐Marie Thillard +8 more
wiley +1 more source
, 2012 Dystonia has many facets, and among those, this book commences with the increasingly associated genes identified, including a construct on how biology interacts with the dystonia genesis.
core +1 more source