Results 31 to 40 of about 13,732 (248)

Objective, computerized video-based rating of blepharospasm severity [PDF]

, 2016
OBJECTIVE: To compare clinical rating scales of blepharospasm severity with involuntary eye closures measured automatically from patient videos with contemporary facial expression software.
Bartlett, MS, Hallett, M, Jinnah, HA, Littlewort, GC, Macerollo, A, Perlmutter, JS, Peterson, DA, Sejnowski, TJ   +7 more
core   +1 more source

Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency [PDF]

, 2018
Background: The first subjects with deficiency of mitochondrial tryptophanyl-tRNA synthetase (WARS2) were reported in 2017. Their clinical characteristics can be subdivided into three phenotypes (neonatal phenotype, severe infantile onset phenotype ...
De Bruyne, Ruth, Menten, Björn, Roels, Frank, Roeyers, Herbert, Smet, Joél, Stepman, Hedwig, Van Coster, Rudy, Vanlander, Arnaud, Vantroys, Elise, Vergult, Sarah   +9 more
core   +1 more source

Acute dystonia in a patient with 22q11.2 deletion syndrome

Mental Illness, 2015
The 22q11.2 deletion syndrome (di George syndrome) is one of the most prevalent genetic disorders. The clinical features of the syndrome are distinct facial appearance, velopharyngeal insufficiency, conotruncal heart disease, parathyroid and immune ...
Konstantinos Kontoangelos, Antonis Maillis, Maria Maltezou, Sofia Tsiori, Charalambos C. Papageorgiou   +4 more
doaj   +1 more source

Post Stroke Lingual Dystonia: Clinical Description and Neuroimaging Findings

Tremor and Other Hyperkinetic Movements, 2019
Background: Lingual dystonia is extremely rare following stroke. We describe clinical features and neuroimaging findings in a series of 11 patients (seven acute and four chronic) with post-stroke lingual dystonia and review the literature.
Sanjay Pandey, Priyanka Tater
doaj   +1 more source

Phenotypic insights into ADCY5-associated disease [PDF]

, 2016
BACKGROUND: Adenylyl cyclase 5 (ADCY5) mutations is associated with heterogenous syndromes: familial dyskinesia and facial myokymia; paroxysmal chorea and dystonia; autosomal-dominant chorea and dystonia; and benign hereditary chorea. We provide detailed
Carss, KJ, Chang, FC, Crimmins, D, Dale, RC, Fung, VS, Grattan-Smith, P, Grozeva, D, Hanna, BC, Hunter, M, Klein, C, Kurian, MA, Lawson, JA, Mahant, N, Max, C, Meyer, E, Morris, JG, Münchau, A, Ouvrier, RA, Pall, HS, Perez-Dueñas, B, Pryor, D, Raymond, L, Sachdev, R, Smith, M, Westenberger, A   +24 more
core   +4 more sources

Tetanus presented as hemiparesis and facial dystonia

J. Neuroinfect. Dis., 2018
We report a case of tetanus presenting as the facial dystonia and hemiparesis with complete recovery and video accompanied follow-up. A 78-year-old male, who sustained an abrasion to his right forearm, presented with dysarthria, dysphagia, prominent involuntary painful muscle spasms in the face, blepharospasm, risus sardonicus, trismus (lockjaw), neck ...
Dulski, Jarosław, Schinwelski, Michal
openaire   +2 more sources

Oromandibular dystonia: A rare clinical entity

Medical Journal of Dr. D.Y. Patil Vidyapeeth, 2019
Oromandibular dystonia (OMD) is a chronic, disabling focal dystonia involving masticatory, facial, pharyngeal, lingual, and lip muscles. OMD interferes with normal orofacial functions, such as deglutition and speech leading to impaired quality of life ...
B Shailaja, Suprakash Chaudhury, Shalesh Rohatgi, Daniel Saldanha   +3 more
doaj   +1 more source

Changes in pallidal neural activity following long-term symptom improvement from botulinum toxin treatment in DYT6 dystonia: a case report

Journal of Medical Case Reports, 2022
Background The globus pallidus internus is the main target for the treatment of dystonia by deep brain stimulation. Unfortunately, for some genetic etiologies, the therapeutic outcome of dystonia is less predictable.
Andrea Giorni, Terry Coyne, Peter A. Silburn, George D. Mellick, Pankaj Sah, François Windels   +5 more
doaj   +1 more source

Effects of onabotulinum toxin type A injections in patients with Meige's syndrome

Arquivos de Neuro-Psiquiatria
Background Meige's syndrome is a type of facial dystonia characterized by the simultaneous occurrence of blepharospasm and oromandibular dystonia.
Alexia Duarte, Léo Coutinho, Francisco Manoel Branco Germiniani, Hélio Afonso Ghizoni Teive   +3 more
doaj   +1 more source

Oro-Mandibular Dystonia Developing with both Sertraline and Fluoxetine Use in a Female Adolescent with Major Depressive Disorder

Psychiatry and Behavioral Sciences, 2022
Oro-mandibular dystonia (OMD) involves repetitive uncontrollable contractions of the lower facial muscles. Its etiology is not fully elucidated although various neurological (encephalitis, etc.), psy-chogenic, and psychopharmacological (SSRIs ...
Setenay Sarioglu, Ali Evren Tufan, Yusuf Ozturk, Dilara Ozdemir   +3 more
doaj   +1 more source