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Dystonia review

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https://www.readbyqxmd.com/read/29053777/movement-disorders-with-neuronal-antibodies-syndromic-approach-genetic-parallels-and-pathophysiology
#1
Bettina Balint, Angela Vincent, Hans-Michael Meinck, Sarosh R Irani, Kailash P Bhatia
Movement disorders are a prominent and common feature in many autoantibody-associated neurological diseases, a group of potentially treatable conditions that can mimic infectious, metabolic or neurodegenerative disease. Certain movement disorders are likely to associate with certain autoantibodies; for example, the characteristic dyskinesias, chorea and dystonia associated with NMDAR antibodies, stiff person spectrum disorders with GAD, glycine receptor, amphiphysin or DPPX antibodies, specific paroxysmal dystonias with LGI1 antibodies, and cerebellar ataxia with various anti-neuronal antibodies...
September 25, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29043906/parkinson-s-disease-and-the-quest-for-preclinical-diagnosis-an-interview-with-professor-werner-poewe
#2
Werner Poewe
Werner Poewe speaks to Laura Dormer, Editorial Director: Professor Werner Poewe is Professor of Neurology and Director of the Department of Neurology at Innsbruck Medical University in Innsbruck, Austria. He held a Residency in Clinical Neurology and Psychiatry at the University of Innsbruck, Austria, from 1977 to 1984. From 1984 to 1985 he teamed up with Gerald Stern and Andrew Lees as a British Council Research Fellow at University College and Middlesex Hospital's Medical School in London to perform clinical studies into levodopa-induced dystonia and pharmacokinetics of levodopa in naive versus L-Dopa treated Parkinson's disease...
October 18, 2017: Neurodegenerative Disease Management
https://www.readbyqxmd.com/read/29026886/clinical-characteristics-of-acute-drug-induced-dystonia-in-pediatric-patients
#3
Hyun Woong Park, Jae Ryung Kwak, Ji Sook Lee
OBJECTIVE: Dystonia is a movement disorder in which muscles contract uncontrollably. Acute drug-induced dystonia (DID) can be diagnosed through detailed history taking and physical examination. This study aimed to identify the clinical characteristics of DID in children, which could help emergency physicians diagnose these conditions more efficiently. METHODS: We reviewed medical records of children aged below 18 years diagnosed with drug-related dystonia after discharge from the emergency department over 10 years...
September 2017: Clinical and Experimental Emergency Medicine
https://www.readbyqxmd.com/read/29024830/new-ocular-finding-in-baraitser-winter-syndrome
#4
Natalie Rall, Alejandro Leon, Ricardo Gomez, Jessica Daroca, Yves Lacassie
Baraitser-Winter syndrome was first described as a syndrome of mental retardation with bilateral ptosis, iris coloboma, widely spaced eyes, broad epicanthus, flattened nasal bridge, hypertelorism, and short stature (Baraitser and Winter, 1988; Baraitser-Winter- iris co, 2016). In a recent review of 42 cases, the phenotypic spectrum has broadened including high-arched eyebrows, short upturned nose tip, long philtrum, cleft lip and palate, abnormally shaped ears, deafness, congenital heart defects, microphthalmia, metopic ridge, microcephaly, pachygyria, progressive joint stiffness, epilepsy, syndactyly, and dystonia, among other less reported signs (Baraitser and Winter, 1988; Ganesh et al...
October 9, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28987166/neurodegeneration-with-brain-iron-accumulation
#5
Sarah Wiethoff, Henry Houlden
Neurodegeneration with brain iron accumulation (NBIA) describes a heterogeneous group of inherited rare clinical and genetic entities. Clinical core symptoms comprise a combination of early-onset dystonia, pyramidal and extrapyramidal signs with ataxia, cognitive decline, behavioral abnormalities, and retinal and axonal neuropathy variably accompanying these core features. Increased nonphysiologic, nonaging-associated brain iron, most pronounced in the basal ganglia, is often termed the unifying characteristic of these clinically variable disorders, though occurrence and extent can be fluctuating or even absent...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28983422/speech-language-pathology-evaluation-and-management-of-hyperkinetic-disorders-affecting-speech-and-swallowing-function
#6
REVIEW
Julie M Barkmeier-Kraemer, Heather M Clark
BACKGROUND: Hyperkinetic dysarthria is characterized by abnormal involuntary movements affecting respiratory, phonatory, and articulatory structures impacting speech and deglutition. Speech-language pathologists (SLPs) play an important role in the evaluation and management of dysarthria and dysphagia. This review describes the standard clinical evaluation and treatment approaches by SLPs for addressing impaired speech and deglutition in specific hyperkinetic dysarthria populations. METHODS: A literature review was conducted using the data sources of PubMed, Cochrane Library, and Google Scholar...
2017: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/28971481/transcranial-magnetic-stimulation-studies-in-complex-regional-pain-syndrome-type-i-a-review
#7
REVIEW
R Nardone, F Brigo, Y Höller, L Sebastianelli, V Versace, L Saltuari, P Lochner, E Trinka
The sensory and motor cortical representation corresponding to the affected limb is altered in patients with complex regional pain syndrome (CRPS). Transcranial magnetic stimulation (TMS) represents a useful non-invasive approach for studying cortical physiology. If delivered repetitively, TMS can also modulate cortical excitability and induce long-lasting neuroplastic changes. In this review, we performed a systematic search of all studies using TMS to explore cortical excitability/plasticity and repetitive TMS (rTMS) for the treatment of CRPS...
October 3, 2017: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/28969740/unilateral-thalamic-infarct-presenting-as-a-convulsive-seizure
#8
Rajesh Kumar, Hazim Brohi, Afshan Mughul
Lesions of the thalamus and those extending into midbrain can cause various types of movement disorders such as dystonia, asterixis and ballism-chorea. Seizures are rare manifestation of thalamic disorder. Occurrence of seizures in bilateral thalamic infarct has been reported; but seizures in unilateral thalamic infarct have been reported very rarely. Literature review showed only single case of perinatal unilateral thalamic infarct presenting with seizures. We are reporting a unique case of convulsive seizure at the onset of unilateral thalamic infarct in an adult male, which has never been reported to the best of our knowledge...
September 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28966590/tubb2b-mutation-in-an-adult-patient-with-myoclonus-dystonia
#9
Joshua T Geiger, Alice B Schindler, Cornelis Blauwendraat, Harvey S Singer, Sonja W Scholz
BACKGROUND: Tubulin mutations are a cause of neuronal migrational disorders referred to as tubulinopathies. Mutations in tubulin genes can have a severe impact on microtubule function and result in heterogeneous clinical presentations. Current understanding of the clinical spectrum of tubulinopathies is predominantly based on research in fetal tissue and early-childhood cases. METHODS: Testing of candidate genes followed by whole-exome sequencing was performed in an adult woman with a neurodevelopmental, hyperkinetic movement disorder, to identify the underlying genetic cause...
May 2017: Case Reports in Neurology
https://www.readbyqxmd.com/read/28966051/deep-brain-stimulation-for-disorders-of-consciousness-systematic-review-of-cases-and-ethics
#10
REVIEW
Jonathan Vanhoecke, Marwan Hariz
BACKGROUND: A treatment for patients suffering from prolonged severely altered consciousness is not available. The success of Deep Brain Stimulation (DBS) in diseases such as Parkinson's, dystonia and essential tremor provided a renewed impetus for its application in Disorders of Consciousness (DoC). OBJECTIVE: To evaluate the rationale for DBS in patients with DoC, through systematic review of literature containing clinical data and ethical considerations. METHODS: Articles from PubMed, Embase, Medline and Web of Science were systematically reviewed...
August 24, 2017: Brain Stimulation
https://www.readbyqxmd.com/read/28947112/medical-management-of-motor-manifestations-of-huntington-disease
#11
Elizabeth A McCusker, Clement T Loy
The motor and movement disorders of Huntington disease (HD) are managed in the context of the other disease features. Chorea and dystonia are the most common HD-associated movement disorders, and they can be assessed on research rating scales. However other motor manifestations have a significant impact. In particular, dysphagia influences choice and tolerance of treatment for the movement disorder, as will comorbidities, patient awareness, and distress related to the motor feature or movement. Treatment for other disease features may aggravate the motor disorder, e...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28937508/status-dystonicus-in-childhood
#12
Daniel E Lumsden, Mary D King, Nicholas M Allen
PURPOSE OF REVIEW: Dystonia is a common paediatric neurological condition. At its most severe, dystonia may lead to life-threatening complications, a state termed status dystonicus. This review provides an update on the definition, causes, management and outcome of childhood status dystonicus. RECENT FINDINGS: High-quality studies in childhood status dystonicus are lacking, though an increasing number of case series have been published. Status dystonicus appears to occur more frequently in children compared with adults, with a clear precipitant identified in around two-thirds of cases...
September 20, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28930542/deep-brain-stimulation-foundations-and-future-trends
#13
David J Aum, Travis S Tierney
Deep brain stimulation (DBS) has emerged as a revolutionary treatment option for essential tremor (ET), Parkinson's disease (PD), idiopathic dystonia, and severe obsessive-compulsive disorder (OCD). This article reviews the historical foundations of DBS including basal ganglia pathophysiological models, classic principles of electrical stimulation, technical components of the DBS system, treatment risks, and future directions for DBS. Chronic high frequency stimulation induces a number of functional changes from fast physiological to slower metabolic effects and ultimately leads to structural reorganization of the brain, so-called neuroplasticity...
January 1, 2018: Frontiers in Bioscience (Landmark Edition)
https://www.readbyqxmd.com/read/28910989/dystonia
#14
Eduardo De Pablo-Fernandez, Thomas T Warner
Introduction: Dystonia is a clinically heterogeneous group of hyperkinetic movement disorders. Recent advances have provided a better understanding of these conditions with significant clinical impact. Sources of data: Peer reviewed journals and reviews. PubMed.gov. Areas of agreement: A recent consensus classification, including the assessment of phenomenology and identification of the dystonia syndromes, has provided a helpful tool for the clinical assessment...
September 1, 2017: British Medical Bulletin
https://www.readbyqxmd.com/read/28906342/deep-brain-stimulation-for-monogenic-dystonia
#15
Bhooma R Aravamuthan, Jeff L Waugh, Scellig S Stone
PURPOSE OF REVIEW: Deep brain stimulation (DBS) has recently emerged as an important management option in children with medically refractory dystonia. DBS is most commonly used, best studied, and thought to be most efficacious for a select group of childhood or adolescent onset monogenic dystonias (designated with a standard 'DYT' prefix). We review how to clinically recognize these types of dystonia and the relative efficacy of DBS for key monogenic dystonias. RECENT FINDINGS: Though used for dystonia in adults for several years, DBS has only lately been used in children...
September 12, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28903059/cognitive-flexibility-in-neurological-disorders-cognitive-components-and-event-related-potentials
#16
REVIEW
Florian Lange, Caroline Seer, Bruno Kopp
Performance deficits on the Wisconsin Card Sorting Test (WCST) in patients with prefrontal cortex (PFC) lesions are traditionally interpreted as evidence for a role of the PFC in cognitive flexibility. However, WCST deficits do not occur exclusively after PFC lesions, but also in various neurological and psychiatric disorders. We propose a multi-component approach that can accommodate this pattern of omnipresent WCST deficits: the WCST is not a pure test of cognitive flexibility, but relies on the effective functioning of multiple dissociable cognitive components...
September 10, 2017: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/28888928/an-update-on-new-and-unique-uses-of-botulinum-toxin-in-movement-disorders
#17
Joseph Jankovic
The therapeutic applications of botulinum toxin (BoNT) have grown manifold since its initial approval in 1989 by the US Food and Drug Administration (FDA) for the treatment of strabismus, blepharospasm, and other facial spasms. Although it is the most potent biologic toxin known to man, long-term studies have established its safety in the treatment of a variety of neurologic and non-neurologic disorders. This review focuses on some novel and uncommon uses of BoNT in the treatment of movement disorders, such as oromandibular dystonia, including bruxism, anterocollis, camptocormia, tremor, tics, tardive and levodopa-induced dyskinesia, and restless legs syndrome...
September 6, 2017: Toxicon: Official Journal of the International Society on Toxinology
https://www.readbyqxmd.com/read/28856607/natural-history-of-aromatic-l-amino-acid-decarboxylase-deficiency-in-taiwan
#18
Wuh-Liang Hwu, Yin-Hsiu Chien, Ni-Chung Lee, Mei-Hsin Li
OBJECTIVES: Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare inherited disorder of monoamine neurotransmitter synthesis; this deficiency leads to psychomotor delay, hypotonia, oculogyric crises, dystonia, and extraneurological symptoms. This study aimed to provide further insight into the clinical course of AADC deficiency in Taiwan. PATIENTS AND METHODS: We present a retrospective, descriptive, single-center study of 37 children with a confirmed diagnosis of AADC deficiency...
August 31, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28844551/safety-and-efficacy-of-high-dose-enteral-intravenous-and-transdermal-clonidine-for-the-acute-management-of-severe-intractable-childhood-dystonia-and-status-dystonicus-an-illustrative-case-series
#19
V Nakou, K Williamson, T Arichi, D E Lumsden, Steve Tomlin, M Kaminska, J-P Lin
OBJECTIVE: Acute dystonia in children is distressing, painful and can progress to life-threatening status dystonicus. Typical management involves benzodiazepines which can result in respiratory depression requiring PICU admission. Clonidine is less respiratory-depressant, and by facilitating sleep, switches dystonia off. It can also be administered via enteral, continuous intravenous infusion, and transdermal slow release routes. We describe the dose range and safety profile of clonidine management in a case-series of children with severe acute exacerbation of dystonia in a tertiary hospital setting...
July 28, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28843401/dystonia-then-and-now
#20
Cynthia L Comella
INTRODUCTION: Dystonia is a rare disorder that has undergone extensive scientific investigation leading to a transformation of understanding over the past century. METHODS: This manuscript was prepared through a review of relevant literature for each topic. RESULTS: Historically dystonia was considered the manifestation of psychiatric disorders. Subsequently, investigations have firmly established this as a neurological disorder. Though electrophysiological and imaging, dystonia is thought to arise from a loss inhibition of motor programs, defective sensorimotor integration and abnormal plasticity...
June 30, 2017: Parkinsonism & related Disorders
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