GNAO1 encephalopathy: broadening the phenotype and evaluating treatment and outcome [PDF]
, 2017 OBJECTIVE: To describe better the motor phenotype, molecular genetic features, and clinical course of GNAO1-related disease. METHODS: We reviewed clinical information, video recordings, and neuroimaging of a newly identified cohort of 7 patients ...
Bianchini, C +20 more
core +3 more sources
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 +7 more
core +1 more source
Dystonia and paroxysmal dyskinesias: under-recognized movement disorders in domestic animals? A comparison with human dystonia/paroxysmal dyskinesias. [PDF]
, 2015 Dystonia is defined as a neurological syndrome characterized by involuntary sustained or intermittent muscle contractions causing twisting, often repetitive movements, and postures.
Albanese +116 more
core +2 more sources
Efficacy of Botulinum Toxin Injections in the Treatment of Various Types of Facial Region Disorders
Türk Nöroloji Dergisi, 2012 OBJECTIVE: Local injection of botulinum toxin is a highly effective treatment option for a wide range of movement disorders and there are reliable sources of information on its indications, effects and safety in clinical practice.
Arzu Çoban +3 more
doaj +1 more source
Dramatic Improvement in Juvenile Parkinsonism after Levodopa Treatment in a Patient Negative for the PANK2 Mutation [PDF]
, 1952 Digitalitzat per ...
Syuan-Yu Hong +8 more
core +2 more sources
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 +4 more
doaj +1 more source
Peripheral trauma and risk of dystonia: What are the evidences and potential co-risk factors from a population insurance database? [PDF]
, 2019 BACKGROUND: Dystonia is a neurological syndrome typically resulting in abnormal postures. OBJECTIVES: We tested the role of physical injury as potential risk factor for development of dystonia using The National Health Insurance Research Database of ...
Chen, H-J +6 more
core +2 more sources
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
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
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 +9 more
core +1 more source