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Orofacial dystonia

Vladimir S Kostić, Igor N Petrović
Brain calcifications may be an incidental finding on neuroimaging in normal, particularly older individuals, but can also indicate numerous hereditary and nonhereditary syndromes, and metabolic, environmental, infectious, autoimmune, mitochondrial, traumatic, or toxic disorders. Bilateral calcifications most commonly affecting the basal ganglia may often be found in idiopathic cases, and a new term, primary familial brain calcification (PFBC), has been proposed that recognizes the genetic causes of the disorder and that calcifications occurred well beyond the basal ganglia...
January 2017: Current Neurology and Neuroscience Reports
Kajetan L von Eckardstein, Friederike Sixel-Döring, Stephan Kazmaier, Claudia Trenkwalder, Jason M Hoover, Veit Rohde
BACKGROUND: In accordance with German neurosurgical and neurological consensus recommendations, lead placements for deep brain stimulation (DBS) in patients with Parkinson's disease (PD) are usually performed with the patient awake and in "medication off" state. This allows for optimal lead position adjustment according to the clinical response to intraoperative test stimulation. However, exacerbation of Parkinsonian symptoms after withdrawal of dopaminergic medication may endanger the patient by inducing severe "off" state motor phenomena...
November 8, 2016: BMC Neurology
Bi-Chun Duan, Wen-Chin Weng, Kuang-Lin Lin, Lee Chin Wong, Sung-Tse Li, Mei-Hsin Hsu, Jainn-Jim Lin, Pi-Chaun Fan, Ming-I Lin, Nan-Chang Chiu, Yu-Ching Lin, Huei-Shyong Wang, Kun-Long Hung, Wang-Tso Lee
Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is one of the most common autoimmune encephalitis that presents with a wide variety of movement disorders. The purpose of our study is to review the manifestations and duration of movement disorders in different ages with NMDAR encephalitis.A retrospective cohort of 28 patients (20 females and 8 males) with positive cerebrospinal fluid (CSF) anti-NMDAR antibody in a 5-year period from major hospitals in Taiwan was enrolled. They were categorized into 3 age groups: 7 patients were ≤10 years, 14 patients were 10 to 18 years, and 7 patients were >18 years...
September 2016: Medicine (Baltimore)
Glenn T Clark, Saravanan Ram
Orofacial movement disorders (OMDs) include dystonia, dyskinesia, drug-induced extrapyramidal reactions, and bruxism. The definition, epidemiology, pathophysiology, clinical features, and management are detailed. OMDs are often disabling and affect patients' overall quality of life with pain, difficulty chewing food, speech difficulty, drooling, and social embarrassment. Management involves medications, botulinum toxin injections, and peripheral or central surgery. Botulinum toxin injections are the most effective management, often used in conjunction with medications...
August 2016: Oral and Maxillofacial Surgery Clinics of North America
J Dulski, W Sołtan, M Schinwelski, M Rudzińska, M Wójcik-Pędziwiatr, L Wictor, F Schön, A Puschmann, J Klempíř, L Tilley, J Roth, P Tacik, S Fujioka, W Drozdowski, E J Sitek, Z Wszolek, J Sławek
OBJECTIVE: To provide clinical clues to differential diagnosis in patients with chorea and other movement disorders with blood acanthocytes. METHODS: We present a long-term video accompanied follow-up of six Caucasian patients with neuroacanthocytosis from several centers, three diagnosed with chorea-acanthocytosis (ChAc): 34-y.o.(no.1), 36-y.o.(no.2), 43-y.o.(no.3), two diagnosed with McLeod Syndrome (MLS): 52-y.o.(no.4), 61-y.o.(no.5) and one 63-y.o.(no.6), a brother of no...
August 2016: Clinical Neurology and Neurosurgery
Marc Guaita, Birgit Högl
Despite numerous case reports, the evidence for treatment of bruxism is still low. Different treatment modalities (behavioral techniques, intraoral devices, medications, and contingent electrical stimulation) have been applied. A clinical evaluation is needed to differentiate between awake bruxism and sleep bruxism and rule out any medical disorder or medication that could be behind its appearance (secondary bruxism). A polysomnography is required only in a few cases of sleep bruxism, mostly when sleep comorbidities are present...
February 2016: Current Treatment Options in Neurology
José Fidel Baizabal-Carvallo, Joseph Jankovic
Frontotemporal dementia (FTD) refers to a group of clinically and genetically heterogeneous neurodegenerative disorders that are a common cause of adult-onset behavioural and cognitive impairment. FTD often presents in combination with various hyperkinetic or hypokinetic movement disorders, and evidence suggests that various genetic mutations underlie these different presentations. Here, we review the known syndromatic-genetic correlations in FTD. Although no direct genotype-phenotype correlations have been identified, mutations in multiple genes have been associated with various presentations...
March 2016: Nature Reviews. Neurology
Barbara Illowsky Karp, Katharine Alter
Blepharospasm is a focal dystonia characterized by involuntary, repetitive eye closure. Orofacial and oromandibular dystonia describe involuntary dystonic movements of orofacial and oromandibular musculature. Hemifacial spasm is characterized by repetitive synchronous contraction of facial nerve innervated muscles on one side of the face. In this article, the clinical presentation, epidemiology, and approaches to treatment are reviewed. Technical aspects of using botulinum toxin for treatment and reported outcomes are discussed...
February 2016: Seminars in Neurology
Matthew Macaluso, Alexandra Flynn, Sheldon Preskorn
This series of columns has 3 main goals: (1) to explain class warnings as used by the United States Food and Drug Administration, (2) to increase awareness of movement disorders that may occur in patients treated with antipsychotic medications, and (3) to understand why clinicians should refrain from immediately assuming a diagnosis of tardive dyskinesia/dystonia (TD) in patients treated with antipsychotics. The first column in this series began with the case of a 76-year-old man with major depressive disorder who developed orofacial dyskinesias while being treated with aripiprazole as an antidepressant augmentation strategy...
January 2016: Journal of Psychiatric Practice
Madhu Nagappa, Sanjib Sinha, Jitender S Saini, Pradeep Kallolimath, Nivedita Singh, Arun Kumar, Parayil S Bindu, Arun B Taly
Non-Wilsonian hepatolenticular degeneration (NWHD) is a heterogeneous neurological disorder occurring secondary to chronic acquired liver disease. Genetically determined familial NWHD is rare, poorly understood, and often mistaken for Wilson's disease (WD). We analysed clinical and MRI profiles of NWHD patients who did not have obvious cause for acquired liver disease, such as alcohol intake or hepatitis. Six patients from four families (four males, two females, mean age: 17.0±standard deviation 7.9years), presenting with chronic extrapyramidal disorder resembling WD and imaging (abdominal ultrasound/MRI) evidence of cirrhosis were studied...
May 2016: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
Sheldon Preskorn, Alexandra Flynn, Matthew Macaluso
This series of columns has 2 main goals: (1) to explain the use of class warnings by the US Food and Drug Administration and (2) to increase clinicians' awareness of movement disorders that may occur in patients being treated with antipsychotic medications and why it is appropriate and good practice to refrain from immediately assuming the diagnosis is tardive dyskinesia/dystonia (TD). This first column in the series will focus on the second goal, which will then serve as a case example for the first goal. Clinicians should refrain from jumping to a diagnosis of TD because a host of other causes need to be ruled out first before inferring iatrogenic causation...
September 2015: Journal of Psychiatric Practice
Kamil K Hozyasz, Adrianna Mostowska, Piotr Wójcicki, Agnieszka Lasota, Małgorzata Zadurska, Izabela Dunin-Wilczyńska, Paweł P Jagodziński
A deficiency of GTP cyclohydrolase, encoded by the GCH1 gene, results in two neurological diseases: hyperphenylalaninaemia type HPABH4B and DOPA-responsive dystonia. Genes involved in neurotransmitter metabolism and motor systems may contribute to palatogenesis. The purpose of the study was to analyse polymorphic variants of the GCH1 gene as risk factors for non-syndromic cleft lip with or without cleft palate (NSCL/P). Genotyping of nine polymorphisms was conducted in a group of 281 NSCL/P patients and 574 controls...
January 2016: Molecular Neurobiology
Giovanni Fratto, Licia Manzon
Patients with problems related to central nervous system dysfunctions are often treated with psychotropic drugs. These include antipsychotics, antidepressants, mood stabilizers, anticonvulsants, and drugs blocking specific receptors in the brain such as anticholinergics or beta-blockers. However, these medications have serious side effects affecting the oral health. In addition, many dental patients make use of psychoactive drugs, such as amphetamine, ecstasy, and cocaine. This article aims to review data on the psychotropic drugs being used in the last 30 years, their pharmacological profile, with special attention to the side effects related to the oral health...
2014: International Journal of Psychiatry in Medicine
Jia Liu, Benedikt Bader, Adrian Danek
BACKGROUND: Neuroacanthocytosis (NA) syndromes are a group of rare diseases characterized by the presence of acanthocytes and neuronal multisystem pathology, including chorea-acanthocytosis (ChAc), McLeod syndrome (MLS), Huntington's disease-like 2 (HDL-2), and pantothenate kinase-associated neurodegeneration (PKAN). China has the largest population in the world, which makes it a good location for investigating rare diseases like NA. METHODS: We searched Medline, ISI Proceedings, China National Knowledge Infrastructure, and Wanfang Data for literature published through December 31, 2013 for all the published Chinese NA case reports and extracted the clinical and laboratory findings...
2014: Tremor and Other Hyperkinetic Movements
Søren Bruno Elmgreen, Erik Hvid Danielsen
Movement disorders presenting in a psychiatric setting are usually caused by extrapyramidal side effects of antipsychotic medications. We present an unusual and rare case of orofacial dyskinesia, tongue dystonia, and choreatic movements in a 31-year-old Turkish man suffering from OCD.
January 20, 2014: Ugeskrift for Laeger
Sujata Mohanty, Ujjwal Gulati
As the angle is a weak region in the continuity of mandible, so it is more prone to fracture. It has been proven time and again that coronoid fracture results from a strong sudden contraction of temporalis. Muscular forces influence the remodeling of bones. Orofacial dystonia is a centrally mediated disease in which there is an uncontrolled spasmodic contraction of facial and masticatory muscles. This continuous force applied over a long period of time has the potential to unfavorably remodel or weaken bone...
November 2013: International Journal of Orofacial Myology
Michael MacMahon, Morag R Naysmith, Stephanie McCallion, Jonathan Rhodes
A young lady was ventilated on intensive care for a prolonged period with NMDA receptor encephalitis. She had undergone steroid, immunoglobulin, and plasmapheresis with no evidence of recovery. Her main management issue was the control of severe orofacial and limb dyskinesia. Large doses of sedating agents had been used to control the dystonia but were ineffective, unless she was fully anaesthetised. The introduction of a ketamine infusion was associated with a dramatic improvement in her symptoms such that it was possible to remove her tracheostomy two days after commencement...
2013: Case Reports in Critical Care
Shekeeb S Mohammad, Sudarshini Ramanathan, Fabienne Brilot, Russell C Dale
Autoantibodies to the extracellular domain of neuronal proteins cause different neurological conditions with movement disorders as a prominent feature. We reviewed the literature of autoantibody-mediated and autoantibody-associated diseases focusing on anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis, autoimmune basal ganglia encephalitis, Sydenham chorea, and the rare syndrome of progressive encephalomyelitis with rigidity and myoclonus. NMDAR encephalitis is a diffuse encephalitis with psychiatric and cognitive features associated with autoantibodies against the NR1 subunit of the NMDAR...
December 2013: Neuropediatrics
Gianni Frisardi, Cesare Iani, Gianfranco Sau, Flavio Frisardi, Carlo Leornadis, Aurea Lumbau, Paolo Enrico, Donatella Sirca, Enrico Maria Staderini, Giacomo Chessa
BACKGROUND: In some clinical cases, bruxism may be correlated to central nervous system hyperexcitability, suggesting that bruxism may represent a subclinical form of dystonia. To examine this hypothesis, we performed an electrophysiological evaluation of the excitability of the trigeminal nervous system in a patient affected by pineal cavernoma with pain symptoms in the orofacial region and pronounced bruxism. METHODS: Electrophysiological studies included bilateral electrical transcranial stimulation of the trigeminal roots, analysis of the jaw jerk reflex, recovery cycle of masseter inhibitory reflex, and a magnetic resonance imaging study of the brain...
October 28, 2013: Behavioral and Brain Functions: BBF
A Sobri Muda, Y G Kwah, S A Al-Edrus, S L Wong, M Z Norzaini, S Viswanathan
We describe a rare case of multiple dilated Virchow-Robin spaces in the brainstem in a patient presenting initially with blepharospasm with subsequent spread to involve the face and neck. On magnetic resonance imaging (MRI), these lesions demonstrated an isointense signal to cerebrospinal fluid on all sequences with no mass effect or enhancement. Although rare, this condition should be considered part of the differential diagnosis when evaluating cystic abnormalities in the brainstem. This is the first reported case of blepharospasm with subsequent orofacial and neck dystonia caused by dilated Virchow-Robin spaces...
November 2010: Neuroradiology Journal
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