Results 21 to 30 of about 781,361 (246)

Non-motor symptoms in dystonia: from diagnosis to treatment [PDF]

open access: yes, 2023
The Dystonia Medical Research Foundation organized an expert virtual workshop in March 2023 to review the evidence on non-motor symptoms across the spectrum of dystonia, discuss existing assessment methods, need for their harmonisation and roadmap to ...
Gimeno, H   +15 more
core   +3 more sources

Clinical and Imaging Profile of Patients with Joubert Syndrome [PDF]

open access: yesJournal of Movement Disorders, 2021
Objective Joubert syndrome (JS) is a rare syndrome characterized by ataxia and the molar tooth sign (MTS) on imaging. The present study aims to explore the clinical and radiological features in a cohort of patients with JS.
Bharath Kumar Surisetti   +6 more
doaj   +1 more source

CT-guided radiofrequency ablation of the extracranial cranial nerve for the treatment of Meige’s syndrome

open access: yesFrontiers in Neuroscience, 2022
BackgroundMeige’ s syndrome, a rare form of dystonia, lacks effective treatment. The purpose of this study was to determine the effects of CT-guided percutaneous extracranial radiofrequency ablation of the facial and/or trigeminal nerves in the treatment
Bing Huang   +5 more
doaj   +1 more source

Cervical dystonia and no oculomotor apraxia as new manifestation of ataxia-telangiectasia-like disorder 1 – case report and review of the literature

open access: yesFrontiers in Neurology, 2023
Ataxia-telangiectasia-like disorder 1 (ATLD1) is a rare neurodegenerative disorder associated with early onset ataxia and oculomotor apraxia. The genetic determination of ATLD1 is a mutation in the MRE11 gene (meiotic recombination 11 gene), which causes
Agnieszka Bajek   +5 more
doaj   +1 more source

Palatal Myoclonus Associated with Orofacial Buccal Dystonia [PDF]

open access: yesClinical and Experimental Otorhinolaryngology, 2012
Palatal myoclonus is a rare condition in which there are rhythmic jerky movements of the soft palate and sometimes of the other muscles innervated by the brainstem A particularly annoying symptom is a rhythmic clicking sound in the ear due to the opening
Shi-Nae Park   +3 more
doaj   +1 more source

Stigma and quality of life for patients with facial dystonia: a cross-sectional study

open access: yes, 2022
Background Facial appearance and expressions influence social interaction. However, few studies have reported on the stigma associated with spasms from facial dystonia.
Mingji Yi   +8 more
semanticscholar   +1 more source

Data-Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies. [PDF]

open access: yesMov Disord Clin Pract
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Morales-Briceño H   +6 more
europepmc   +2 more sources

Sensory trick effect in craniofacial dystonia as one of the possible impacts of wearing face masks during the COVID-19 pandemic

open access: yesNeurological Research and Practice, 2021
Background The report of a patient with blepharospasm during the COVID-19 pandemic suggested a potential ameliorating effect of wearing a face mask.
Frank Erbguth, Rüdiger Lange
doaj   +1 more source

Generalized Dystonia With Cervical Predominance in a Patient With a De Novo TCF20 Variant [PDF]

open access: yesAnn Clin Transl Neurol
ABSTRACT TCF20 has been implicated in developmental delay and intellectual disability, with dystonia reported less frequently. We describe a woman in her early twenties with childhood‐onset learning difficulties, progressive dysarthria, tremor, and generalized dystonia with marked cervical predominance, associated with a de novo TCF20 frameshift ...
Kilic M   +7 more
europepmc   +2 more sources

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