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Focal dystonia

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https://www.readbyqxmd.com/read/28983422/speech-language-pathology-evaluation-and-management-of-hyperkinetic-disorders-affecting-speech-and-swallowing-function
#1
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/28983420/velopharyngeal-dystonia-an-unusual-focal-task-specific-dystonia
#2
Amar S Patel, Lucian Sulica, Steven J Frucht
BACKGROUND: Velopharyngeal dysfunction produces a nasal speech pattern because of the inability to close the nasal airway during speech, most often associated with anatomical abnormalities of the palate. CASE REPORT: We describe two cases of possible velopharyngeal dystonia, a task-specific movement disorder causing a speech pattern similar to velopharyngeal dysfunction. Both patients experienced treatment response with anticholinergic medication. DISCUSSION: Dystonia affecting speech via involvement of the pharyngeal musculature may be an unrecognized etiology of voice disorders...
2017: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/28955194/cathodal-transcranial-direct-current-stimulation-improves-focal-hand-dystonia-in-musicians-a-two-case-study
#3
Sara Marceglia, Simona Mrakic-Sposta, Manuela Fumagalli, Roberta Ferrucci, Francesca Mameli, Maurizio Vergari, Sergio Barbieri, Alberto Priori
Focal hand dystonia (FHD) in musicians is a movement disorder causing abnormal movements and irregularities in playing. Since weak electrical currents applied to the brain induce persistent excitability changes in humans, cathodal tDCS was proposed as a possible non-invasive approach for modulating cortical excitability in patients with FHD. However, the optimal targets and modalities have still to be determined. In this pilot study, we delivered cathodal (2 mA), anodal (2 mA) and sham tDCS over the motor areas bilaterally for 20 min daily for five consecutive days in two musicians with FHD...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/28920067/a-history-of-dystonia-ancient-to-modern
#4
REVIEW
Rachel E Newby, Deborah E Thorpe, Peter A Kempster, Jane E Alty
Before 1911, when Hermann Oppenheim introduced the term dystonia, this movement disorder lacked a unifying descriptor. While words like epilepsy, apoplexy, and palsy have had their meanings since antiquity, references to dystonia are much harder to identify in historical documents. Torticollis is an exception, although there is difficulty distinguishing dystonic torticollis from congenital muscular torticollis. There are, nevertheless, possible representations of dystonia in literature and visual art from the pre-modern world...
July 2017: Movement Disorders Clinical Practice
https://www.readbyqxmd.com/read/28910989/dystonia
#5
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/28904473/surgical-interventions-for-task-specific-dystonia-writer-s-dystonia
#6
Paresh K Doshi, Raghvendra Vijay Ramdasi, Bharati Karkera, Dilraj B Kadlas
OBJECTIVES: Writer's cramp is a focal dystonia producing abnormal postures during selective motor activities. Thalamotomy or globus pallidus internus deep brain stimulation (GPi DBS) has been used as a surgical treatment in patients not responding to medical treatment. MATERIALS AND METHODS: Eight patients (all men, age 16-47 years) with refractory focal hand dystonia underwent either ventrooralis (Vo) thalamotomy (seven patients) or GPi DBS (one patient) using stereotactic techniques...
July 2017: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/28893588/resting-state-fmri-observations-of-baseline-brain-functional-activities-and-connectivities-in-primary-blepharospasm
#7
Ming-Fei Ni, Xiao-Feng Huang, Yan-Wei Miao, Zhan-Hua Liang
Primary blepharospasm (BPS) is a focal dystonia characterized by involuntary eyelid spasms and blinking. The pathophysiology of BPS remains unclear. Several functional and structural neuroimaging studies have demonstrated abnormalities of sensorimotor structures such as the sensorimotor cortex, the basal ganglia, the thalamus and the cerebellum in BPS patients. However, some of the results of these studies were inconsistent. In addition, the relationship between the motor and sensory structures in patients with BPS still needs to be investigated...
September 8, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28843401/dystonia-then-and-now
#8
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
https://www.readbyqxmd.com/read/28805575/nonmotor-symptoms-in-dystonia
#9
Julie Ann Kristy L Torres, Raymond L Rosales
With the emergence of quality of life measures as an indicator for the impact of medical and surgical interventions in dystonia, focus has shifted toward unraveling the pathophysiology and neuroanatomical basis of the "nonmotor symptoms" (NMS). To date, the NMS are now recognized as the greater determinant of quality of life in dystonia, going above and beyond the motor symptomatology. This chapter highlights what is currently known in available literature on the NMS among patients with early-onset dystonia, adult-onset focal dystonia, and dystonia-plus syndromes with particular focus on the NMS involving cognition, mood, behavior (even suicide), sleep, and pain...
2017: International Review of Neurobiology
https://www.readbyqxmd.com/read/28794890/pathophysiology-of-writer-s-cramp-an-exploratory-study-on-task-specificity-and-non-motor-symptoms-using-an-extended-fine-motor-testing-battery
#10
Ali Amouzandeh, Michael Grossbach, Joachim Hermsdörfer, Eckart Altenmüller
BACKGROUND: Writer's cramp (WC) is a task-specific focal dystonia which manifests itself as abnormal postures interfering with motor performance. As the spread of motor symptoms remains controversial and non-motor symptoms are widely discussed, in this exploratory study, we explore the pathophysiology of WC, focusing on task-specificity and the psychological profiles of WC patients. METHODS: In 14 right-handed WC patients and matched controls, we assessed motor control by applying motor performance tests (Vienna Test Series), as well as using writing analysis and grip-force measurements...
2017: Journal of Clinical Movement Disorders
https://www.readbyqxmd.com/read/28772097/what-have-we-learned-about-movement-disorders-from-functional-neurosurgery
#11
Andres M Lozano, William D Hutchison, Suneil K Kalia
Modern functional neurosurgery for movement disorders such as Parkinson's disease, tremor, and dystonia involves the placement of focal lesions or the application of deep brain stimulation (DBS) within circuits that modulate motor function. Precise targeting of these motor structures can be further refined by the use of electrophysiological approaches. In particular, microelectrode recordings enable the delineation of neuroanatomic structures. In the course of these operations, there is an opportunity not only to map basal ganglia structures but also to gain insights into how disturbances in neural activity produce movement disorders...
July 25, 2017: Annual Review of Neuroscience
https://www.readbyqxmd.com/read/28690015/causes-of-failure-of-pallidal-deep-brain-stimulation-in-cases-with-pre-operative-diagnosis-of-isolated-dystonia
#12
K Amande M Pauls, Joachim K Krauss, Constanze E Kämpfer, Andrea A Kühn, Christoph Schrader, Martin Südmeyer, Niels Allert, Rainer Benecke, Christian Blahak, Jana K Boller, Gereon R Fink, Wolfgang Fogel, Thomas Liebig, Faycal El Majdoub, Philipp Mahlknecht, Josef Kessler, Joerg Mueller, Juergen Voges, Matthias Wittstock, Alexander Wolters, Mohammad Maarouf, Elena Moro, Jens Volkmann, Kailash P Bhatia, Lars Timmermann
INTRODUCTION: Pallidal deep brain stimulation (GPi-DBS) is an effective therapy for isolated dystonia, but 10-20% of patients show improvement below 25-30%. We here investigated causes of insufficient response to GPi-DBS in isolated dystonia in a cross-sectional study. METHODS: Patients with isolated dystonia at time of surgery, and <30% improvement on the Burke-Fahn-Marsden dystonia-rating-scale (BFMDRS) after ≥6 months of continuous GPi-DBS were videotaped ON and OFF stimulation, and history, preoperative videos, brain MRI, medical records, stimulation settings, stimulation system integrity, lead location, and genetic information were obtained and reviewed by an expert panel...
June 28, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28676144/ixcellence-network%C3%A2-an-international-educational-network-to-improve-current-practice-in-the-management-of-cervical-dystonia-or-spastic-paresis-by-botulinum-toxin-injection
#13
Klemens Fheodoroff, Roongroj Bhidayasiri, Luis Jorge Jacinto, Tae Mo Chung, Kailash Bhatia, Therese Landreau, Carlo Colosimo
Botulinum toxin is a well-established treatment for a number of conditions involving muscle hyperactivity, such as focal dystonia and spastic paresis. However, current injection practice is not standardized and there is a clear need for structured training. An international group of experts in the management of patients with cervical dystonia (CD) and spastic paresis created a steering committee (SC). For each therapeutic area, the SC developed a core slide set on best practice, based on the literature. International sites of expertise were identified for training and courses were designed to include lectures and casebased learning...
April 2017: Functional Neurology
https://www.readbyqxmd.com/read/28674168/connectome-wide-phenotypical-and-genotypical-associations-in-focal-dystonia
#14
RANDOMIZED CONTROLLED TRIAL
Stefan Fuertinger, Kristina Simonyan
Isolated focal dystonia is a debilitating movement disorder of unknown pathophysiology. Early studies in focal dystonias have pointed to segregated changes in brain activity and connectivity. Only recently has the notion that dystonia pathophysiology may lie in abnormalities of large-scale brain networks appeared in the literature. Here, we outline a novel concept of functional connectome-wide alterations that are linked to dystonia phenotype and genotype. Using a neural community detection strategy and graph theoretical analysis of functional MRI data in human patients with the laryngeal form of dystonia (LD) and healthy controls (both males and females), we identified an abnormally widespread hub formation in LD, which particularly affected the primary sensorimotor and parietal cortices and thalamus...
August 2, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28652522/botulinum-toxin-for-treatment-of-the-focal-dystonia
#15
Yusaku Nakamura
Dystonia is defined as a movement disorder characterized by sustained or intermittent muscles contraction causing abnormal, often repetitive, movements, postures, or both. Dystonic movements are typically patterned and twisting, and may be tremulous. The precis diagnosis of dystonia is difficult for physicians because neurological brain imaging does not provide enough practical information. The diagnosis is depend on clinical experience of physicians. Botulinum toxin treatment is the accepted standard of care for patients with focal dystonia...
July 29, 2017: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/28651822/pharyngeal-dystonia-mimicking-spasmodic-dysphonia
#16
Lucy L Shi, C Blake Simpson, Edie R Hapner, Hyder A Jinnah, Michael M Johns
OBJECTIVE: The aim of this study was to describe the presentation of pharyngeal dystonia (PD), which can occur as a focal or segmental dystonia with a primarily pharyngeal involvement for the discussion of treatment methods for controlling consequent symptoms. PD is specific to speech-related tasks. METHODS: A retrospective medical record review of four patients with PD was performed. RESULTS: All patients were initially misdiagnosed with adductor spasmodic dysphonia and failed standard treatment with botulinum toxin type A (BTX)...
June 23, 2017: Journal of Voice: Official Journal of the Voice Foundation
https://www.readbyqxmd.com/read/28645253/a-case-report-of-thoracolumbar-paraspinal-myopathy-as-the-cause-of-camptocormia-in-a-patient-with-atypical-parkinsonism
#17
Yoon Kim, Ahro Kim, Aryun Kim, Beomseok Jeon
BACKGROUND: Camptocormia is severe flexion of the thoracolumbar spine, exaggerated during standing and walking but minimized in supine position. Even though camptocormia is a relatively common condition during the course of Parkinson's disease, there is ongoing controversy concerning its mechanisms. The most widely accepted and yet still disputed one is dystonia. However, based on myopathic changes observed in the paraspinal muscle biopsies of some PD patients with camptocormia, the attempt to attribute camptocormia to myopathy has continued...
June 23, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28629634/-123-i-fp-cit-spect-imaging-in-blepharospasm
#18
M De Verdal, D Renard, L Collombier, G Castelnovo
INTRODUCTION: Blepharospasm is a focal dystonia characterized by involuntary cocontraction of the eyelid protractors, causing spasmodic closure of the eyelids. Apraxia of eyelid opening is caused by an inability to initiate lid opening without paralytic abnormality. Some studies suggest that patients with either pure blepharospasm or blepharospasm associated with apraxia of eyelid opening are more prone to developing Parkinson's disease. METHODS: In our study, (123)I-FP-CIT (DAT) SPECT was performed in 24 patients with either pure blepharospasm or blepharospasm associated with apraxia of eyelid opening and no signs of parkinsonism to identify dopaminergic dysfunction...
June 16, 2017: Revue Neurologique
https://www.readbyqxmd.com/read/28620630/etiology-diagnosis-and-management-of-oromandibular-dystonia-an-update-for-stomatologists
#19
REVIEW
Saeed Raoofi, Hooman Khorshidi, Maryam Najafi
Oromandibular dystonia (OMD) is a rare focal neurological disorder that affects mouth, face, and jaws. This comprehensive literature review aimed to summarize the current evidence for etiology, diagnosis, and management of OMD and assess the possibility of dental origin of the disease and dental treatment plans for these patients. Different online databases namely PubMed, Google scholar, and Scopus were searched. The keywords "oromandibular dystonia", "orofaciomandibular dystonia", "orofacial-buccal dystonia", "lingual dystonia", "jaw dystonia", "cranial dystonia", and "adult-onset facial dystonia" were searched in the title and abstract of publications from 1970 to 2016...
June 2017: Journal of Dentistry
https://www.readbyqxmd.com/read/28602822/structure-of-the-acf7-ef-hand-gar-module-and-delineation-of-microtubule-binding-determinants
#20
Thomas R Lane, Elaine Fuchs, Kevin C Slep
Spectraplakins are large molecules that cross-link F-actin and microtubules (MTs). Mutations in spectraplakins yield defective cell polarization, aberrant focal adhesion dynamics, and dystonia. We present the 2.8 Å crystal structure of the hACF7 EF1-EF2-GAR MT-binding module and delineate the GAR residues critical for MT binding. The EF1-EF2 and GAR domains are autonomous domains connected by a flexible linker. The EF1-EF2 domain is an EFβ-scaffold with two bound Ca(2+) ions that straddle an N-terminal α helix...
July 5, 2017: Structure
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