keyword
MENU ▼
Read by QxMD icon Read
search

Dystonia review

keyword
https://www.readbyqxmd.com/read/28220756/deep-brain-stimulation-for-childhood-dystonia-is-where-as-important-as-in-whom
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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...
February 3, 2017: Journal of Neural Transmission
https://www.readbyqxmd.com/read/28159584/botulinum-toxin-in-the-management-of-head-and-neck-disorders
#7
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
#8
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
#9
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
https://www.readbyqxmd.com/read/28142335/complex-regional-pain-syndrome-in-children-a-systematic-review-of-clinical-features-and-movement-disorders
#10
Hashem Abu-Arafeh, Ishaq Abu-Arafeh
AIM: To ascertain clinical features of complex regional pain syndrome (CRPS) in children with a focus on movement disorders. METHODS: all publications with original data on children with CRPS were assessed. Data were tabulated and descriptive statistics were applied. RESULTS: One population-based study and nine clinic-based studies provided data on demographic and clinical characteristics of childhood CRPS. Mean age of onset was 12.5 years and 85% of patients were females (risk ratio: 1...
February 1, 2017: Pain Management
https://www.readbyqxmd.com/read/28124435/current-applications-and-limitations-of-surgical-treatments-for-movement-disorders
#11
REVIEW
Paul Krack, Raul Martinez-Fernandez, Marta Del Alamo, Jose A Obeso
Functional neurosurgery for the treatment of both psychiatric and neurological disorders has been performed regularly since the 1940s. However, misuse in the early days and the appearance of effective medical treatments, such as levodopa and neuroleptic drugs, greatly reduced surgical approaches over several decades. The development of a comprehensive model of basal ganglia pathophysiology in the 1990s facilitated the resurgence of functional neurosurgery, mainly for the treatment of levodopa-related motor complications in Parkinson's disease...
January 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28120141/autoimmune-movement-disorders-a-clinical-and-laboratory-approach
#12
REVIEW
Josephe Archie Honorat, Andrew McKeon
Autoimmune movement disorders are caused by an aberrant immune response to neural self-antigens. These disorders may be paraneoplastic, parainfectious, or (most commonly) idiopathic. The neurological presentations are diverse, and sometimes multifocal. Movement disorders can occur as part of the spectrum with phenotypes including chorea, myoclonus, ataxia, CNS hyperexcitability (including stiff-person syndrome), dystonia, and parkinsonism. Symptoms are subacute in onset and may have a fluctuating course. The best characterized disorders are unified by neural autoantibodies identified in serum or cerebrospinal fluid...
January 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28081261/the-role-of-tor1a-polymorphisms-in-dystonia-a-systematic-review-and-meta-analysis
#13
Vasileios Siokas, Efthimios Dardiotis, Evangelia E Tsironi, Georgios Tsivgoulis, Dimitrios Rikos, Maria Sokratous, Stylianos Koutsias, Konstantinos Paterakis, Georgia Deretzi, Georgios M Hadjigeorgiou
IMPORTANCE: A number of genetic loci were found to be associated with dystonia. Quite a few studies have been contacted to examine possible contribution of TOR1A variants to the risk of dystonia, but their results remain conflicting. The aim of the present study was to systematically evaluate the effect of TOR1A gene SNPs on dystonia and its phenotypic subtypes regarding the body distribution. METHODS: We performed a systematic review of Pubmed database to identify all available studies that reported genotype frequencies of TOR1A SNPs in dystonia...
2017: PloS One
https://www.readbyqxmd.com/read/28070495/an-atypical-presentation-of-acad9-deficiency-diagnosis-by-whole-exome-sequencing-broadens-the-phenotypic-spectrum-and-alters-treatment-approach
#14
H K Aintablian, V Narayanan, N Belnap, K Ramsey, T A Grebe
Acyl-CoA dehydrogenase 9 (ACAD9), linked to chromosome 3q21.3, is one of a family of multimeric mitochondrial flavoenzymes that catalyze the degradation of fatty acyl-CoA from the carnitine shuttle via β-oxidation (He et al. 2007). ACAD9, specifically, is implicated in the processing of palmitoyl-CoA and long-chain unsaturated substrates, but unlike other acyl-CoA dehydrogenases (ACADs), it has a significant role in mitochondrial complex I assembly (Nouws et al. 2010 & 2014). Mutations in this enzyme typically cause mitochondrial complex I deficiency, as well as a mild defect in long chain fatty acid metabolism (Haack et al...
March 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28055131/subthalamic-nuclei-stimulation-in-patients-with-pantothenate-kinase-associated-neurodegeneration-pkan
#15
Ziyuan Liu, Yang Liu, Yingmai Yang, Lin Wang, Wanchen Dou, Jinzhu Guo, Yu Wang, Yi Guo, Xinhua Wan, Wenbin Ma, Renzhi Wang
INTRODUCTION: Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive genetic disease that leads to extrapyramidal symptoms, such as dystonia, ataxia, dysarthria, and involuntary movements. Treatment of PKAN with deep brain stimulation (DBS) has been reported, but mainly focuses on targeting the globus pallidus internus (GPi). Subthalamic nuclei (STN) may also be a potential target for treatment of PKAN. METHODS: In this study, we reviewed three patients with PKAN (two with typical PKAN and one with atypical PKAN) treated by bilateral STN stimulation and present a review of the literature...
January 5, 2017: Neuromodulation: Journal of the International Neuromodulation Society
https://www.readbyqxmd.com/read/28039522/focal-task-specific-dystonia-a-review-and-update
#16
Christine M Stahl, Steven J Frucht
In this review, we summarize recent advances in understanding the etiology, risk factors and pathophysiology of focal task specific dystonia (FTSD), movement disorders characterized by abnormal motor activation during the performance of specific, repetitive actions. We focus on two common FTSD, musician's dystonia and writer's cramp. FTSD may pose a threat to the patient's livelihood, and improved therapeutic treatments are needed.
December 30, 2016: Journal of Neurology
https://www.readbyqxmd.com/read/28018198/time-processing-and-motor-control-in-movement-disorders
#17
REVIEW
Laura Avanzino, Elisa Pelosin, Carmelo M Vicario, Giovanna Lagravinese, Giovanni Abbruzzese, Davide Martino
The subjective representation of "time" is critical for cognitive tasks but also for several motor activities. The neural network supporting motor timing comprises: lateral cerebellum, basal ganglia, sensorimotor and prefrontal cortical areas. Basal ganglia and associated cortical areas act as a hypothetical "internal clock" that beats the rhythm when the movement is internally generated. When timing information is processed to make predictions on the outcome of a subjective or externally perceived motor act, cerebellar processing and outflow pathways appear to be primarily involved...
2016: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28017205/meige-s-syndrome-history-epidemiology-clinical-features-pathogenesis-and-treatment
#18
REVIEW
Sanjay Pandey, Soumya Sharma
'Meige's syndrome' is a type of cranial dystonia characterized by blepharospasm and oromandibular dystonia and can be associated with complex movement of lower facial muscles, mouth, jaw, tongue, pharyngeal and cervical muscles. Frequently, blepharospasm is the earliest clinical manifestation, which spreads over a period of time to involve other cranial and extra-cranial muscles. Common characteristics of this syndrome are well known, but their variety is wide. Different eponyms such as "Breughel syndrome", "Wood syndrome", "Blepharospasm plus", "Segmental cranial dystonia" and "Segmental cranio-cervical dystonia" have been used to describe this entity with numerous anatomical variations...
January 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28002866/botulinum-toxin-injections-in-musculoskeletal-disorders
#19
Ivan R B Godoy, Dean M Donahue, Martin Torriani
Botulinum toxin (BTX) is used for multiple clinical indications due to its ability to induce temporary chemodenervation and muscle paralysis. This property has supported its application in treating a variety of musculoskeletal conditions, especially those involving muscular hyperactivity and contractures such as cerebral palsy and dystonia. However, off-label use of BTX injection in other musculoskeletal disorders is gaining increased acceptance, such as in neurogenic thoracic outlet syndrome, epicondylitis, and shoulder pain after stroke...
November 2016: Seminars in Musculoskeletal Radiology
https://www.readbyqxmd.com/read/27942912/distinguishing-features-of-psychogenic-functional-versus-organic-hemifacial-spasm
#20
José Fidel Baizabal-Carvallo, Joseph Jankovic
Hemifacial spasm (HFS) is one of the most common presentations in patients with cranial psychogenic (functional) movement disorders (PMD). Medical records and videos of patients with PMD and HFS were reviewed to identify those with psychogenic HFS and to compare the phenomenology of psychogenic HFS with organic HFS. We identified 18 (9.8%) patients with psychogenic HFS from a cohort of 184 patients with PMDs. There were 14 (78%) women and 4 men, with a mean age at onset of 33 ± 13.5 years. These were compared with 37 consecutive patients with organic (primary) HFS...
December 9, 2016: Journal of Neurology
keyword
keyword
27808
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"