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Dystonia review

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https://www.readbyqxmd.com/read/28543038/central-voice-production-and-pathophysiology-of-spasmodic-dysphonia
#1
REVIEW
Niv Mor, Kristina Simonyan, Andrew Blitzer
OBJECTIVE: Our ability to speak is complex, and the role of the central nervous system in controlling speech production is often overlooked in the field of otolaryngology. In this brief review, we present an integrated overview of speech production with a focus on the role of central nervous system. The role of central control of voice production is then further discussed in relation to the potential pathophysiology of spasmodic dysphonia (SD). DATA SOURCES: Peer-review articles on central laryngeal control and SD were identified from PUBMED search...
May 23, 2017: Laryngoscope
https://www.readbyqxmd.com/read/28536875/-genetic-risk-variants-in-parkinson-s-disease-and-other-movement-disorders
#2
REVIEW
K Brockmann, K Lohmann
Movement disorders are often genetically complex with genetic risk factors playing a major role. For example, monogenic causes of Parkinson's disease (PD) can be found in only 2-5% of patients who often have an early onset (<40 years). In the majority of patients, common genetic variants seem to contribute to the disease risk. To date, 24 genetic risk factors have been identified. For restless legs syndrome (RLS), six different risk variants have been reported but no monogenic cause is known yet. For the genetic risk factors of essential tremor and dystonia, which are less well studied, only five and two candidate variants, respectively, have been described but their roles still require independent confirmation...
May 23, 2017: Der Nervenarzt
https://www.readbyqxmd.com/read/28533005/risk-factors-for-daytime-or-combined-incontinence-in-children-with-cerebral-palsy
#3
Bieke Samijn, Christine Van den Broeck, Ellen Deschepper, Catherine Renson, Piet Hoebeke, Frank Plasschaert, Johan Vande Walle, Erik Van Laecke
PURPOSE: To identify risk factors for daytime or combined urinary incontinence (UI) in children with cerebral palsy (CP). MATERIALS AND METHODS: A cross-sectional case-control study was conducted including children with CP with or without UI from the CP-Reference Centre at *** (blinded for review) and two associated special education schools. Factors were subdivided in three clusters, namely demographic and general medical data, CP classification and bladder and bowel dysfunction...
May 19, 2017: Journal of Urology
https://www.readbyqxmd.com/read/28485494/a-systematic-review-of-scales-to-measure-dystonia-and-choreoathetosis-in-children-with-dyskinetic-cerebral-palsy
#4
REVIEW
Kirsty Stewart, Adrienne Harvey, Leanne M Johnston
AIM: To identify and systematically review the psychometric properties and clinical utility of dystonia and choreoathetosis scales reported for children with cerebral palsy (CP). METHOD: Six electronic databases were searched for dystonia and choreoathetosis scales with original psychometric data for children with CP aged 0 to 18 years. RESULTS: Thirty-four papers met the inclusion criteria, which contained six scales purported to measure dystonia and/or choreoathetosis in children with CP: the Burke-Fahn-Marsden Dystonia Rating Scale; Barry-Albright Dystonia Scale; Unified Dystonia Rating Scale; Movement Disorder-Childhood Rating Scale; Movement Disorder-Childhood Rating Scale 0-3 Years; and the Dyskinesia Impairment Scale...
May 9, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28465830/economics-of-botulinum-toxin-therapy-influence-of-the-abobotulinumtoxina-package-size-on-the-costs-of-botulinum-toxin-therapy
#5
Dirk Dressler, Fereshte Adib Saberi
BACKGROUND: AbobotulinumtoxinA (Dysport®) was distributed for many years in vials containing 500MU (D500). Recently a new 300MU vial (D300) was additionally introduced (introduction). We wanted to explore whether more differentiated package sizes allow for more economic use of Dysport® in a large neurological botulinum toxin (BT) outpatient clinic. METHODS: The study followed a retrospective chart review design based on our digital BT therapy data bank. All patients receiving Dysport® exclusively in a constant dose during the observation period (introduction ± 7 months) were included...
2017: Journal of Clinical Movement Disorders
https://www.readbyqxmd.com/read/28464773/the-role-of-atypical-antipsychotics-in-sexuality-road-to-recovery-in-schizophrenia
#6
Raja Lope Adam, Hatta Sidi, Marhani Midin, Hazli Zakaria, Srijit Das, Khairi Che Mat
Sexuality is an important dimension in human beings as a form of expression of individuality. For many decades, sexual functioning has been a neglected area among patients suffering from schizophrenia. It was a presumption that patients with schizophrenia could be asexual and this could be secondary to overwhelming situations of delusion, hallucination, hostility and negative symptoms among others. The deficient in sexual functioning are due to innate factors, i.e. negative symptoms (apathy, avolition and amotivation) and also as a result of prefrontal dysfunction, i...
May 2, 2017: Current Drug Targets
https://www.readbyqxmd.com/read/28461905/dystonic-storm-a-practical-clinical-and-video-review
#7
REVIEW
Pichet Termsarasab, Steven J Frucht
Dystonic storm is a frightening hyperkinetic movement disorder emergency. Marked, rapid exacerbation of dystonia requires prompt intervention and admission to the intensive care unit. Clinical features of dystonic storm include fever, tachycardia, tachypnea, hypertension, sweating and autonomic instability, often progressing to bulbar dysfunction with dysarthria, dysphagia and respiratory failure. It is critical to recognize early and differentiate dystonic storm from other hyperkinetic movement disorder emergencies...
2017: Journal of Clinical Movement Disorders
https://www.readbyqxmd.com/read/28441826/-a-childhood-onset-rapid-onset-dystonia-parkinsonism-family-with-atp1a3-gene-mutation-and-literatures-review
#8
C L Zhang, F Yin, F He, N Gai, Z Q Shi, J Peng
Objective: To explore clinical characteristics, treatment, and prognosis of a family with childhood-onset rapid-onset dystonia parkinsonism (RDP) caused by ATP1A3 gene mutation and review literatures. Method: The clinical data of a RDP child, his brother and mother had been analyzed retrospectively. This family was admitted to Xiangya Hospital in January 2016. DNA samples were analyzed by the next-generation sequencing and confirmed by Sanger sequencing. Related literature from PubMed, Online Mendelian Inheritance in Man (OMIM), CNKI and Wanfang databases to date (up to October 2016) with"Rapid-onset dystonia-parkinsonism"RDP"DYT12" as key words was reviewed...
April 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28441825/-progressive-cavitating-leukoencephalopathy-four-cases-and-literatures-review
#9
C H Ren, F Fang, H Cheng, C H Ding, C H Chen, Y J Zhang, D M Shen
Objective: To analyze the clinical and genetic features of progressive cavitating leukoencephalopathy (PCL). Method: The data of clinical and genetic features of 4 PCL patients diagnosed by Beijing Children's Hospital between January 2015 and January 2016 were analyzed. The cases with complete clinical data retrieved on literature search at China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform and PubMed (up to August 2016) by using search terms of"NDUFV1" ,"NDUFS1" , or"leukoencephalopathy" , were summarized...
April 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28441773/overview-of-four-functional-classification-systems-commonly-used-in-cerebral-palsy
#10
REVIEW
Andrea Paulson, Jilda Vargus-Adams
Cerebral palsy (CP) is the most common physical disability in childhood. CP comprises a heterogeneous group of disorders that can result in spasticity, dystonia, muscle contractures, weakness and coordination difficulty that ultimately affects the ability to control movements. Traditionally, CP has been classified using a combination of the motor type and the topographical distribution, as well as subjective severity level. Imprecise terms such as these tell very little about what a person is able to do functionally and can impair clear communication between providers...
April 24, 2017: Children
https://www.readbyqxmd.com/read/28431323/transcranial-magnetic-stimulation-in-developmental-stuttering-relations-with-previous-neurophysiological-research-and-future-perspectives
#11
REVIEW
P Busan, P P Battaglini, M Sommer
Developmental stuttering (DS) is a disruption of the rhythm of speech, and affected people may be unable to execute fluent voluntary speech. There are still questions about the exact causes of DS. Evidence suggests there are differences in the structure and functioning of motor systems used for preparing, executing, and controlling motor acts, especially when they are speech related. Much research has been obtained using neuroimaging methods, ranging from functional magnetic resonance to diffusion tensor imaging and electroencephalography/magnetoencephalography...
June 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/28410962/determinaical-disease-synthesis-of-systematic-reviews
#12
Daniel Krewski, Caroline Barakat-Haddad, Jennifer Donnan, Rosemary Martino, Tamara Pringsheim, Helen Tremlett, Pascal van Lieshout, Stephanie J Walsh, Nicholas J Birkett, James Gomes, Julian Little, Sonya Bowen, Hamilton Candundo, Ting-Kuang Chao, Kayla Collins, James A G Crispo, Tom Duggan, Reem El Sherif, Nawal Farhat, Yannick Fortin, Janet Gaskin, Pallavi Gupta, Mona Hersi, Jing Hu, Brittany Irvine, Shayesteh Jahanfar, Don MacDonald, Kyla McKay, Andrea Morrissey, Pauline Quach, Ruksana Rashid, Sabina Shin, Lindsey Sikora, Stacey Tkachuk, Mohamed K Taher, Ming-Dong Wang, Shalu Darshan, Neil R Cashman
Systematic reviews were conducted to identify risk factors associated with the onset and progression of 14 neurological conditions, prioritized as a component of the National Population Health Study of Neurological Conditions. These systematic reviews provided a basis for evaluating the weight of evidence of evidence for risk factors for the onset and progression of the 14 individual neurological conditions considered. A number of risk factors associated with an increased risk of onset for more than one condition, including exposure to pesticides (associated with an increased risk of AD, amyotrophic lateral sclerosis, brain tumours, and PD; smoking (AD, MS); and infection (MS, Tourette syndrome)...
April 11, 2017: Neurotoxicology
https://www.readbyqxmd.com/read/28388718/abobotulinumtoxina-a-25-year-history
#13
Gary D Monheit, Andy Pickett
During the late 1960s and early 1970s, Alan Scott showed that intramuscular injections of botulinum toxin (BoNT) corrected nonaccommodative strabismus without resorting to surgery. The UK doctors who trained with Scott soon realized the significant potential offered by BoNT type A as a therapeutic option for several difficult-to-treat diseases. This led to a collaboration between these pioneering clinicians and the Centre for Applied Microbiology and Research at Porton Down, United Kingdom, and, in turn, to the development and commercialization of abobotulinumtoxinA as Dysport (Dystonia/Porton Down; Ipsen Biopharm Ltd...
May 1, 2017: Aesthetic Surgery Journal
https://www.readbyqxmd.com/read/28382611/parkinsonism-or-other-movement-disorders-presenting-as-stroke-mimics
#14
Cheng-Yang Hsieh, Chih-Hung Chen, Sheng-Feng Sung, Wen-Juh Hwang
PURPOSE: Patients with parkinsonism or other movement disorders may visit the emergency department due to acute deterioration of neurological status or consciousness disturbance. Under such circumstances, patients may be misdiagnosed as having a hyperacute stroke, i.e. stroke mimic. The purpose of the present study was to explore the clinical features and consequences of patients with parkinsonism or other movement disorders presenting as stroke mimics with activation of a stroke code...
December 15, 2016: Acta Neurologica Taiwanica
https://www.readbyqxmd.com/read/28331322/the-role-of-deep-brain-stimulation-in-parkinson-s-disease-an-overview-and-update-on-new-developments
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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