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Dystonia review

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https://www.readbyqxmd.com/read/28331322/the-role-of-deep-brain-stimulation-in-parkinson-s-disease-an-overview-and-update-on-new-developments
#1
REVIEW
John Y Fang, Christopher Tolleson
Parkinson's disease (PD) is a progressive neurodegenerative disorder characterized by the loss of neuronal dopamine production in the brain. Oral therapies primarily augment the dopaminergic pathway. As the disease progresses, more continuous delivery of therapy is commonly needed. Deep brain stimulation (DBS) has become an effective therapy option for several different neurologic and psychiatric conditions, including PD. It currently has US Food and Drug Administration approval for PD and essential tremor, as well as a humanitarian device exception for dystonia and obsessive-compulsive disorder...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/28293679/research-conference-summary-from-the-2014-international-task-force-on-atp1a3-related-disorders
#2
Hendrik Rosewich, Matthew T Sweney, Suzanne DeBrosse, Kevin Ess, Laurie Ozelius, Eva Andermann, Frederick Andermann, Gene Andrasco, Alice Belgrade, Allison Brashear, Sharon Ciccodicola, Lynn Egan, Alfred L George, Aga Lewelt, Joshua Magelby, Mario Merida, Tara Newcomb, Vicky Platt, Dominic Poncelin, Sandra Reyna, Masayuki Sasaki, Marcio Sotero de Menezes, Kathleen Sweadner, Louis Viollet, Mary Zupanc, Kenneth Silver, Kathryn Swoboda
OBJECTIVE: ATP1A3-related neurologic disorders encompass a broad range of phenotypes that extend well beyond initial phenotypic criteria associated with alternating hemiplegia of childhood (AHC) and rapid-onset dystonia parkinsonism. METHODS: In 2014, the Alternating Hemiplegia of Childhood Foundation hosted a multidisciplinary workshop intended to address fundamental challenges surrounding the diagnosis and management of individuals with ATP1A3-related disorders...
April 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28291301/-acute-dystonia-due-to-aripiprazole-use-in-two-children-with-autism-spectrum-disorder-in-the-first-five-years-of-life
#3
Mustafa Küçükköse, Bürge Kabukçu Başay
Autism spectrum disorders (ASD) are neuropsychiatric disorders characterized by impairment in social interactions, in verbal and non-verbal communication, and restricted and stereotyped patterns of interest and behavior within the first 3 years of life. Pharmacologic interventions may be needed for the treatment of temper tantrums, aggression, hyperactivity, and stereotypes in children with ASD. The approval of aripiprazole by the United States Food and Drug Administration (USFDA) for the treatment of temper tantrums in children and adolescents with ASD has gained increased interest for the use in these patients...
2017: Türk Psikiyatri Dergisi, Turkish Journal of Psychiatry
https://www.readbyqxmd.com/read/28286494/clinical-practice-evidence-based-recommendations-for-the-treatment-of-cervical-dystonia-with-botulinum-toxin
#4
REVIEW
Maria Fiorella Contarino, Joost Van Den Dool, Yacov Balash, Kailash Bhatia, Nir Giladi, Johannes H Koelman, Annemette Lokkegaard, Maria J Marti, Miranda Postma, Maja Relja, Matej Skorvanek, Johannes D Speelman, Evelien Zoons, Joaquim J Ferreira, Marie Vidailhet, Alberto Albanese, Marina A J Tijssen
Cervical dystonia (CD) is the most frequent form of focal dystonia. Symptoms often result in pain and functional disability. Local injections of botulinum neurotoxin are currently the treatment of choice for CD. Although this treatment has proven effective and is widely applied worldwide, many issues still remain open in the clinical practice. We performed a systematic review of the literature on botulinum toxin treatment for CD based on a question-oriented approach, with the aim to provide practical recommendations for the treating clinicians...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28283962/update-on-the-genetics-of-dystonia
#5
REVIEW
Katja Lohmann, Christine Klein
Mainly due to the advent of next-generation sequencing (NGS), the field of genetics of dystonia has rapidly grown in recent years, which led to the discovery of a number of novel dystonia genes and the development of a new classification and nomenclature for inherited dystonias. In addition, new findings from both in vivo and in vitro studies have been published on the role of previously known dystonia genes, extending our understanding of the pathophysiology of dystonia. We here review the current knowledge and recent findings in the known genes for isolated dystonia TOR1A, THAP1, and GNAL as well as for the combined dystonias due to mutations in GCH1, ATP1A3, and SGCE...
March 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28281424/a-review-of-patients-with-glutaric-aciduria-type-1-at-inkosi-albert-luthuli-central-hospital-durban-south-africa
#6
R Govender, A Mitha, L Mubaiwa
Glutaric aciduria type 1 (GA1) is an organic acidaemia. The objective of this study was to describe the profile of patients diagnosed with GA1 at Inkosi Albert Luthuli Central Hospital, Durban, South Africa from 2007 to 2015. We identified 6 children (4 girls, 2 boys) in a retrospective review. The mean age at diagnosis was 12 months. Clinical findings on presentation were encephalopathic crises (n=4), hypotonia (n=4) and macrocephaly (n=5). Other complications included seizures (n=4), dystonia (n=3) and bulbar dysfunction (n=4)...
February 27, 2017: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
https://www.readbyqxmd.com/read/28276873/the-hidden-niemann-pick-type-c-patient-clinical-niches-for-a-rare-inherited-metabolic-disease
#7
Christian J Hendriksz, Mathieu Anheim, Peter Bauer, Olivier Bonnot, Anupam Chakrapani, Jean-Christophe Corvol, Tom J de Koning, Anna Degtyareva, Carlo Dionisi-Vici, Sarah Doss, Thomas Duning, Paola Giunti, Rosa Iodice, Tracy Johnston, Dierdre Kelly, Hans-Hermann Klünemann, Stefan Lorenzl, Alessandro Padovani, Miguel Pocovi, Matthis Synofzik, Alta Terblanche, Florian Then Bergh, Meral Topçu, Christine Tranchant, Mark Walterfang, Christian Velten, Stefan A Kolb
BACKGROUND: Niemann-Pick disease type C (NP-C) is a rare, inherited neurodegenerative disease of impaired intracellular lipid trafficking. Clinical symptoms are highly heterogeneous, including neurological, visceral, or psychiatric manifestations. The incidence of NP-C is under-estimated due to under-recognition or misdiagnosis across a wide range of medical fields. New screening and diagnostic methods provide an opportunity to improve detection of unrecognized cases in clinical sub-populations associated with a higher risk of NP-C...
March 2, 2017: Current Medical Research and Opinion
https://www.readbyqxmd.com/read/28273554/head-drop-after-botox-electrodiagnostic-evaluation-of-iatrogenic-botulinum-toxicity
#8
Eliza Szuch, James B Caress, Bandhu Paudyal, Allison Brashear, Michael S Cartwright, Roy E Strowd
BACKGROUND: Botulinum is a potent neurotoxin with increasing indications for neurologic disorders. While clinical benefit manifests primarily due to local actions at the neuromuscular junction, regional and systemic effects do occur. Rarely, systemic symptoms including weakness, dysarthria, dysphagia and other side effects occur as a result of iatrogenic botulinum neurotoxicity. CASE: A 72 year-old female with right leg dystonia developed head drop, bulbar and systemic weakness following right lower extremity botulinum toxin injection...
March 5, 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/28247116/considerations-in-deep-brain-stimulation-dbs-for-pediatric-secondary-dystonia
#9
Deki Tsering, Laura Tochen, Bennett Lavenstein, Srijaya K Reddy, Yael Granader, Robert F Keating, Chima O Oluigbo
PURPOSE: There is a paucity of effective long-term medication treatment for secondary dystonias. In situations where significantly impairing secondary dystonias fail to respond to typical enteral medications and intrathecal (or even intraventricular) baclofen, consideration should be given to the use of deep brain stimulation (DBS). While Level I evidence and long-term follow-up clearly demonstrate the efficacy of DBS for primary dystonia, the evidence for secondary dystonia remains mixed and unclear...
February 28, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28229063/childhood-laryngeal-dystonia-following-bilateral-globus-pallidus-abnormality-a-case-study-and-review-of-literature
#10
Mohammad Javad Saeedi Borujeni, Ebrahim Esfandiary, Mostafa Almasi-Dooghaee
INTRODUCTION: Dystonia is a disorder of movement caused by various etiologies. Laryngeal dystonia is caused by the spasm of laryngeal muscles. It is a disorder caused by vocal fold movement in which excessive adduction or abduction of the vocal folds occurs during speech. The pathophysiology of this type of dystonia is not fully known. Some researchers have suggested that basal ganglia structures and their connections with cortical areas have been involved in the pathogenesis of dystonia...
January 2017: Iranian Journal of Otorhinolaryngology
https://www.readbyqxmd.com/read/28223858/the-therapeutic-usage-of-botulinum-toxin-botox-in-non-cosmetic-head-and-neck-conditions-an-evidence-based-review
#11
REVIEW
Kamran Habib Awan
Botulinum toxin (Botox) is an exotoxin produced from Clostridium botulinum. It blocks the release of acetylcholine from the cholinergic nerve end plates resulting in inactivity of the muscles or glands innervated. The efficacy of Botox in facial aesthetics is well established; however, recent literature has highlighted its utilization in multiple non-cosmetic medical and surgical conditions. The present article reviews the current evidence pertaining to Botox use in the non-cosmetic head and neck conditions...
January 2017: Saudi Pharmaceutical Journal: SPJ: the Official Publication of the Saudi Pharmaceutical Society
https://www.readbyqxmd.com/read/28220756/deep-brain-stimulation-for-childhood-dystonia-is-where-as-important-as-in-whom
#12
REVIEW
Daniel E Lumsden, Margaret Kaminska, Keyoumars Ashkan, Richard Selway, Jean-Pierre Lin
Deep brain stimulation (DBS) has become a mainstay of dystonia management in adulthood. Typically targeting electrode placement in the GPi, sustained improvement in dystonic symptoms are anticipated in adults with isolated genetic dystonias. Dystonia in childhood is more commonly a symptomatic condition, with dystonia frequently expressed on the background of a structurally abnormal brain. Outcomes following DBS in this setting are much more variable, the reasons for which have yet to be elucidated. Much of the focus on improving outcomes following DBS in dystonia management has been on the importance of patient selection, with, until recently, little discussion of the choice of target...
January 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28217105/how-many-dystonias-clinical-evidence
#13
REVIEW
Alberto Albanese
Literary reports on dystonia date back to post-Medieval times. Medical reports are instead more recent. We review here the early descriptions and the historical establishment of a consensus on the clinical phenomenology and the diagnostic features of dystonia syndromes. Lumping and splitting exercises have characterized this area of knowledge, and it remains largely unclear how many dystonia types we are to count. This review describes the history leading to recognize that focal dystonia syndromes are a coherent clinical set encompassing cranial dystonia (including blepharospasm), oromandibular dystonia, spasmodic torticollis, truncal dystonia, writer's cramp, and other occupational dystonias...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28186378/efficacy-of-pallidal-stimulation-in-isolated-dystonia-a-systematic-review-and-meta-analysis
#14
REVIEW
E Moro, C LeReun, J K Krauss, A Albanese, J-P Lin, S Walleser Autiero, T C Brionne, M Vidailhet
The aim of this review was to provide strong clinical evidence of the efficacy of deep brain stimulation (DBS) of the globus pallidus internus (GPi) in isolated inherited or idiopathic dystonia. Eligible studies were identified after a systematic literature review of the effects of bilateral GPi-DBS in isolated dystonia. Absolute and percentage changes from baseline in the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) motor and disability scores were pooled, and associations between treatment effect and patient characteristics were explored using meta-regression...
February 10, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28168537/hyperkinetic-movement-disorder-emergencies
#15
REVIEW
Giovanni Cossu, Carlo Colosimo
A movement disorder emergency has been defined by Fahn and Frucht as "any neurological disorder evolving acutely or subacutely, in which the clinical presentation is dominated by a primary movement disorder, and in which failure to accurately diagnose and manage the patient may result in significant morbidity or even mortality." In this review, we discuss the most common situations in which hyperkinetic movement disorders, including chorea, ballism, dystonia, myoclonus, tics, as well as psychogenic disorders, can present as emergencies...
January 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28166704/anesthetic-considerations-in-scoliosis-patient-with-dopa-responsive-dystonia-or-segawa-s-syndrome
#16
M Shahnaz Hasan, Kok Weng Leong, Chris Yin Wei Chan, Mun Keong Kwan
Segawa's syndrome or dopa-responsive dystonia is a rare hereditary disorder characterized by progressive dystonia of childhood onset, diurnal fluctuation of symptoms and complete or near complete alleviation of symptoms with administration of low-dose oral levodopa. From our literature search in PubMed, we found only three related publications: two on anesthesia for cesarean section and one on anesthesia for electroconvulsive therapy. We report our experience in providing anesthesia for corrective scoliosis surgery in two biological sisters with Segawa's syndrome...
January 2017: Journal of Orthopaedic Surgery
https://www.readbyqxmd.com/read/28160152/deep-brain-stimulation-for-dystonia-a-novel-perspective-on-the-value-of-genetic-testing
#17
REVIEW
H A Jinnah, Ron Alterman, Christine Klein, Joachim K Krauss, Elena Moro, Marie Vidailhet, Robert Raike
The dystonias are a group of disorders characterized by excessive muscle contractions leading to abnormal movements and postures. There are many different clinical manifestations and underlying causes. Deep brain stimulation (DBS) provides an effect treatment, but outcomes can vary considerably among the different subtypes of dystonia. Several variables are thought to contribute to this variation including age of onset and duration of dystonia, specific characteristics of the dystonic movements, location of stimulation and stimulator settings, and others...
April 2017: Journal of Neural Transmission
https://www.readbyqxmd.com/read/28159584/botulinum-toxin-in-the-management-of-head-and-neck-disorders
#18
REVIEW
Ravleen Nagi, Deepa Jatti Patil, Shashikant Sahu, Supreet Jain, Giridhar S Naidu
Botulinum toxin is a polypeptide protoxin synthesized by Clostridium botulinum that results in localized reduction of muscle activity by inhibiting acetylcholine release at the neuromuscular junction. In 2004, the US Food and Drug Administration approved its application in the treatment of various medical conditions, such as facial wrinkles, strabismus, cervical dystonia, blepharospasm, and hyperhidrosis. Later, its application extended to improving dental esthetics and gummy smile. It was found to be a safe and effective alternative to medical therapy to treat various head and neck disorders that have a neurologic component...
December 7, 2016: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
https://www.readbyqxmd.com/read/28150386/an-emerging-female-phenotype-with-loss-of-function-mutations-in-the-aristaless-related-homeodomain-transcription-factor-arx
#19
Tessa Mattiske, Ching Moey, Lisenka E Vissers, Natalie Thorne, Peter Georgeson, Madhura Bakshi, Cheryl Shoubridge
The devastating clinical presentation of X-linked lissencephaly with abnormal genitalia (XLAG) is invariably caused by loss of function mutations in the Aristaless-related homeobox (ARX) gene. Mutations in this X-chromosome gene contribute to intellectual disability (ID) with co-morbidities including seizures and movement disorders such as dystonia in affected males. The detection of affected females with mutations in ARX is increasing. We present a family with multiple affected individuals, including two females...
February 1, 2017: Human Mutation
https://www.readbyqxmd.com/read/28143763/using-the-shared-genetics-of-dystonia-and-ataxia-to-unravel-their-pathogenesis
#20
REVIEW
Esther A R Nibbeling, Cathérine C S Delnooz, Tom J de Koning, Richard J Sinke, Hyder A Jinnah, Marina A J Tijssen, Dineke S Verbeek
In this review we explore the similarities between spinocerebellar ataxias and dystonias, and suggest potentially shared molecular pathways using a gene co-expression network approach. The spinocerebellar ataxias are a group of neurodegenerative disorders characterized by coordination problems caused mainly by atrophy of the cerebellum. The dystonias are another group of neurological movement disorders linked to basal ganglia dysfunction, although evidence is now pointing to cerebellar involvement as well. Our gene co-expression network approach identified 99 shared genes and showed the involvement of two major pathways: synaptic transmission and neurodevelopment...
January 28, 2017: Neuroscience and Biobehavioral Reviews
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