Results 21 to 30 of about 7,923 (198)

Dystonia-deafness syndrome caused by ACTB p.Arg183Trp heterozygosity shows striatal dopaminergic dysfunction and response to pallidal stimulation

open access: yesJournal of Neurodevelopmental Disorders, 2018
Background Dystonia-deafness syndrome is a well-known clinical entity, with sensorineural deafness typically manifesting earlier than dystonia. ACTB p.Arg183Trp heterozygosity has been reported in six patients to cause combined infant-onset deafness and ...
Inger Marie Skogseid   +8 more
doaj   +1 more source

Use of Botulinum Toxin in Orofacial Clinical Practice

open access: yesToxins, 2020
Introduction: Botulinum neurotoxin (BoNT) is a potent biological toxin and powerful therapeutic tool for a growing number of clinical orofacial applications.
Maria-Angeles Serrera-Figallo   +6 more
doaj   +1 more source

Facial muscle movements in patients with Parkinson's disease undergoing phonation tests

open access: yesFrontiers in Neurology, 2022
PurposeParkinson's disease (PD) is a serious neurodegenerative disease affecting the elderly. In general, the locomotion deficit, which seriously affects the daily life of patients with PD, usually occurs at a later stage. The mask face symptom meanwhile
Fan Xu   +9 more
doaj   +1 more source

Wishbone pattern of iron accumulation: A pathognomonic sign of type III GM1 gangliosidosis

open access: yesAnnals of Movement Disorders, 2019
Type III GM1 gangliosidosis is the adult or chronic variant of a lysosomal storage disorder, which occurs secondary to deficiency of β-galactosidase.
Shweta Prasad   +3 more
doaj   +1 more source

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

open access: yesMental 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   +4 more
doaj   +1 more source

Post Stroke Lingual Dystonia: Clinical Description and Neuroimaging Findings

open access: yesTremor 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

Tetanus presented as hemiparesis and facial dystonia

open access: yesJ. 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

open access: yesMedical 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   +3 more
doaj   +1 more source

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

open access: yesArquivos 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   +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

open access: yesJournal 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   +5 more
doaj   +1 more source

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