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Dystonia review

Zsila S Sadighi, Jennifer Zabrowski, Frederick A Boop, Alberto Broniscer, Amar Gajjar, Raja B Khan
BACKGROUND: We studied the outcomes of movement disorders that were associated with childhood thalamic tumors. METHODS: We retrospectively reviewed 83 children with thalamic tumors treated at our institution from 1996 to 2013 to document the incidence and outcome of movement disorders. Magnetic resonance imaging was used to analyze the involvement of thalamic nuclei, and three instruments were used to rate the severity of the disorders. RESULTS: Nine (11%) patients had one or more of the following movement disorders: postural tremor, resting tremor, ballism, dystonia, myoclonus, and athetosis...
August 22, 2016: Pediatric Neurology
Adam M Nagy, Christopher M Tolleson
Deep brain stimulation (DBS) is a unique, functional neurosurgical therapy indicated for medication refractory movement disorders as well as some psychiatric diseases. Multicontact electrodes are placed in "deep" structures within the brain with targets varying depending on the surgical indication. An implanted programmable pulse generator supplies the electrodes with a chronic, high frequency electrical current that clinically mimics the effects of ablative lesioning techniques. DBS's efficacy has been well established for its movement disorder indications (Parkinson's disease, essential tremor, and dystonia)...
October 8, 2016: Brain Sciences
Baishampayan Goswami
No abstract text is available yet for this article.
January 2016: Journal of the Association of Physicians of India
Navneet Kaur, Puneet Kumar, Sumit Jamwal, Rahul Deshmukh, Vinod Gauttam
BACKGROUND: Tetrabenazine (TBZ) is the only US Food and Drug Administration-approved drug for the treatment of chorea related to Huntington's disease and other hyperkinetic disorders. TBZ was first synthesized in 1950, and was then used for the treatment of psychosis. But later its potential in treating hyperkinetic disorders was proved by its ability to block vesicular monoamine transporters 2 and deplete monoamine stores. There is still lack of awareness about the therapeutic potential of this drug...
September 2016: Annals of Neurosciences
Tapan Thacker, Ashley R Wegele, Sarah Pirio Richardson
BACKGROUND: Recruitment for clinical trials is a major challenge. Movement disorders, which do not have associated diagnostic laboratory tests, may be especially prone to inaccuracy in coding. Our objective was to evaluate the accuracy of diagnostic codes such as cervical dystonia (CD) and PD in an electronic medical record. METHODS: Retrospective chart review was performed to confirm the ICD-9 diagnoses of PD, CD and diabetes mellitus type 2 (DM-2), using published clinical diagnostic criteria (PD, CD) and hemoglobin A1c ≥ 6...
September 2016: Movement Disorders Clinical Practice
Elliot Hogg, Michele Tagliati
BACKGROUND: Overuse or task-specific dystonia has been described in a number of professions characterized by repetitive actions, typically affecting the upper extremities. Cervical dystonia (CD), however, has rarely been associated with overuse. CASE REPORT: We present a case report of typical CD that developed in the context of chronic repetitive movements associated with the patient's professional occupation as an office manager who spent many hours per day holding a phone to his ear...
2016: Tremor and Other Hyperkinetic Movements
Bhupender Kumar Bajaj, Ankur Wadhwa, Richa Singh, Saurabh Gupta
Wilson's disease is a multisystem disorder which manifests with hepatic, neurological, musculoskeletal, hematological, renal, and cardiac symptoms. The hepatic and neurological manifestations often overshadow the other system involvement including cardiac symptoms and signs, which may prove fatal. We report a case of a young female who presented with progressive parkinsonian features and dystonia for around 4 months followed 2 months later by the complaint of episodes of light-headedness. She was diagnosed to have Wilson's disease based on the presence of Kayser-Fleischer ring and laboratory parameters of copper metabolism...
October 2016: Journal of Neurosciences in Rural Practice
Adolfo Ramirez-Zamora, Brian Kaszuba, Lucy Gee, Julia Prusik, Eric Molho, Meghan Wilock, Damian Shin, Julie G Pilitsis
OBJECTIVES: Dystonic tremor (DT) is defined as a postural/kinetic tremor occurring in the body region affected by dystonia. DT is typically characterized by focal tremors with irregular amplitudes and variable frequencies typically below 7Hz. Pharmacological treatment is generally unsuccessful and guidelines for deep brain stimulation (DBS) targeting and indications are scarce. In this article, we present the outcome and neurophysiologic data of two patients with refractory, focal limb DT treated with Globus Pallidus interna (Gpi) DBS and critically review the current literature regarding surgical treatment of DT discussing stereotactic targets and treatment considerations...
November 2016: Clinical Neurology and Neurosurgery
Wooseok Im, Jangsup Moon, Manho Kim
Gene therapy is a potential therapeutic strategy for treating hereditary movement disorders, including hereditary ataxia, dystonia, Huntington's disease, and Parkinson's disease. Genome editing is a type of genetic engineering in which DNA is inserted, deleted or replaced in the genome using modified nucleases. Recently, clustered regularly interspaced short palindromic repeat/CRISPR associated protein 9 (CRISPR/Cas9) has been used as an essential tool in biotechnology. Cas9 is an RNA-guided DNA endonuclease enzyme that was originally associated with the adaptive immune system of Streptococcus pyogenes and is now being utilized as a genome editing tool to induce double strand breaks in DNA...
September 2016: Journal of Movement Disorders
Michael Z Lerner, Benjamin A Lerner, Amit A Patel, Andrew Blitzer
OBJECTIVES/HYPOTHESIS: The objective of this study was to determine the influence of gender on onabotulinum toxin A dosing for the treatment of adductor spasmodic dysphonia symptoms. STUDY DESIGN: Retrospective review. METHODS: A chart review of the senior author's database of botulinum toxin injections was performed. Patients diagnosed with adductor spasmodic dysphonia who received onabotulinum toxin A (BoNTA) injections to the thyroarytenoid muscle for at least 5 years were included for study...
September 16, 2016: Laryngoscope
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)
Puneet Jain, Suvasini Sharma, Fred van Ruissen, Satinder Aneja
Hereditary myoclonus-dystonia (DYT 11) is caused by the epsilon-sarcoglycan (SGCE) mutation. The clinical details and investigations of cases diagnosed with myoclonus-dystonia were reviewed. We describe 5 patients (3 families) with myoclonus-dystonia diagnosed at our center. Majority of the patients had the classical phenotype with few atypical features (adult-onset disease and onset in lower limbs). Four patients carried a mutant variant in the SGCE-gene. A diagnosis of myoclonus-dystonia should be considered in cognitively normal patients with early-onset myoclonus (that may occur both at rest and/or action) with or without dystonia and with or without psychiatric-disturbances...
September 2016: Neurology India
L Tatu, W H Jost
At first glance, cervical dystonia might be an illustration of the well-known proposition "function follows form". Nevertheless, cervical dystonia is a highly non-physiological condition, which cannot be reproduced by healthy subjects and does not respond to the usual physiological rules. "Dysfunction follows form" might be the most accurate aphorism to define cervical dystonia. Taking into account this situation and recent insights, the anatomic approach needs to be adapted to allow a better understanding of semiology and to improve botulinum toxin therapy...
September 13, 2016: Journal of Neural Transmission
Sara G Lutz, Jeffrey D Holmes, Emily A Ready, Mary E Jenkins, Andrew M Johnson
Up to 40% of all individuals with Parkinson's disease (PD) are estimated to experience anxiety that interferes with daily functioning. This article describes research regarding the presentation of anxiety in PD and the influence anxiety has on participation in this population. A scoping review identified 1,635 articles, of which 49 met the inclusion criteria. This review identified that anxiety in PD is often associated with a range of clinical correlates related to demographic and clinical characteristics (age, gender, disease stage, duration, progression), motor symptoms (tremor, bradykinesia, dystonia, freezing of gait, symptom severity), treatment-related complications (on/off fluctuations, on with dyskinesia, unpredictable off), and non-motor symptoms (sleep abnormalities, fatigue, cognitive impairment, depression)...
July 2016: OTJR: Occupation, Participation and Health
Caroline L S Kilduff, Edward J Casswell, Tahrina Salam, Dov Hersh, Santiago Ortiz-Perez, Daniel Ezra
Importance: Patients with benign essential blepharospasm or hemifacial spasm are known to use botulinum toxin injections and alleviating maneuvers to help control their symptoms. The clinical correlates between the use of botulinum toxin injections and the use of alleviating maneuvers are not well established. Objective: To determine whether the use of alleviating maneuvers for benign essential blepharospasm or hemifacial spasm correlates with disease severity or botulinum toxin treatment...
September 8, 2016: JAMA Ophthalmology
Virginie Woisard, Xuelai Liu, Marie Christine Arné Bes, Marion Simonetta-Moreau
Data, regarding the use of botulinum toxin (BT-A) in laryngeal dyspnea, are scarce, coming from some cases reports in the literature, including Vocal fold paralysis, laryngeal dystonia, vocal cord dysfunction also called paradoxical motion of the vocal fold (PMVF), and post-neuroleptic laryngeal dyskinesia. There is no consensus regarding the muscles and the doses to inject. The aim of this study is to present a retrospective review of patients treated in our ENT Department by BT-A injection in this indication...
September 6, 2016: European Archives of Oto-rhino-laryngology
Roberta Ferrucci, Tommaso Bocci, Francesca Cortese, Fabiana Ruggiero, Alberto Priori
Several studies have highlighted the therapeutic potential of transcranial direct current stimulation (tDCS) in patients with neurological diseases, including dementia, epilepsy, post-stroke dysfunctions, movement disorders, and other pathological conditions. Because of this technique's ability to modify cerebellar excitability without significant side effects, cerebellar tDCS is a new, interesting, and powerful tool to induce plastic modifications in the cerebellum. In this report, we review a number of interesting studies on the application of cerebellar tDCS for various neurological conditions (ataxia, Parkinson's disease, dystonia, essential tremor) and the possible mechanism by which the stimulation acts on the cerebellum...
2016: Cerebellum & Ataxias
Michelangelo Bartolo, Adriano CHIò, Sergio Ferrari, Cristina Tassorelli, Stefano Tamburin, Micol Avenali, Eva Azicnuda, Andrea Calvo, Augusto T Caraceni, Giovanni Defazio, Roberto DE Icco, Rita Formisano, Simone Franzoni, Elena Greco, Iwona Jedrychowska, Francesca Magrinelli, Umberto Manera, Enrico Marchioni, Sara Mariotto, Salvatore Monaco, Andrea Pace, Donatella Saviola, Isabella Springhetti, Michele Tinazzi, Antonio DE Tanti
BACKGROUND: Pain is an important non-motor symptom in several neurological diseases, such as Parkinson's disease, cervical dystonia, amyotrophic lateral sclerosis, severe acquired brain injury, disorders of consciousness and dementia, as well as in oncology and neuroinfectivology. AIMS: To overcome the lack of evidence-based data on pain management in these diseases, the Italian Consensus Conference on Pain in Neurorehabilitation (ICCPN) defined criteria for good clinical practice among Italian neurorehabilitation professionals...
August 31, 2016: European Journal of Physical and Rehabilitation Medicine
Fatima Yousif Ismail, Ali Fatemi, Michael V Johnston
BACKGROUND: Neuroplasticity refers to the inherently dynamic biological capacity of the central nervous system (CNS) to undergo maturation, change structurally and functionally in response to experience and to adapt following injury. This malleability is achieved by modulating subsets of genetic, molecular and cellular mechanisms that influence the dynamics of synaptic connections and neural circuitry formation culminating in gain or loss of behavior or function. Neuroplasticity in the healthy developing brain exhibits a heterochronus cortex-specific developmental profile and is heightened during "critical and sensitive periods" of pre and postnatal brain development that enable the construction and consolidation of experience-dependent structural and functional brain connections...
August 9, 2016: European Journal of Paediatric Neurology: EJPN
Ryoong Huh, Moonyoung Chung
OBJECTIVE: Deep brain stimulation (DBS) at the posterolateral ventral portion of the globus pallidus internus (GPi) has been regarded as a good therapeutic modality. Because the theoretical principle behind the stimulation parameters is yet to be determined, this study aimed to interpret analyses of the stimulation parameters used in our department based on an electrophysiological review. METHODS: Nineteen patients with medically refractory idiopathic cervical dystonia who underwent GPi DBS were enrolled...
October 2016: Acta Neurochirurgica
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