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Focal dystonia

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https://www.readbyqxmd.com/read/28805575/nonmotor-symptoms-in-dystonia
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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...
June 24, 2017: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/28651822/pharyngeal-dystonia-mimicking-spasmodic-dysphonia
#8
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
#9
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
#10
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
#11
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
#12
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
https://www.readbyqxmd.com/read/28594097/functional-activity-of-the-sensorimotor-cortex-and-cerebellum-relates-to-cervical-dystonia-symptoms
#13
Roxana G Burciu, Christopher W Hess, Stephen A Coombes, Edward Ofori, Priyank Shukla, Jae Woo Chung, Nikolaus R McFarland, Aparna Wagle Shukla, Michael S Okun, David E Vaillancourt
Cervical dystonia (CD) is the most common type of focal dystonia, causing abnormal movements of the neck and head. In this study, we used noninvasive imaging to investigate the motor system of patients with CD and uncover the neural correlates of dystonic symptoms. Furthermore, we examined whether a commonly prescribed anticholinergic medication in CD has an effect on the dystonia-related brain abnormalities. Participants included 16 patients with CD and 16 healthy age-matched controls. We collected functional MRI scans during a force task previously shown to extensively engage the motor system, and diffusion and T1-weighted MRI scans from which we calculated free-water and brain tissue densities...
September 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28539879/multiple-neural-networks-malfunction-in-primary-blepharospasm-an-independent-components-analysis
#14
Xiao-Feng Huang, Meng-Ru Zhu, Ping Shan, Chen-Hui Pei, Zhan-Hua Liang, Hui-Ling Zhou, Ming-Fei Ni, Yan-Wei Miao, Guo-Qing Xu, Bing-Wei Zhang, Ya-Yin Luo
Primary blepharospasm (BPS) is a focal dystonia characterized by involuntary blinking and eyelid spasms. The pathophysiology of BPS remains unclear. Several neuroimaging studies have suggested dysfunction of sensory processing and sensorimotor integration, but the results have been inconsistent. This study aimed to determine whether patients with BPS exhibit altered functional brain connectivity and to explore possible correlations between these networks and clinical variables. Twenty-five patients with BPS and 25 healthy controls were enrolled...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28515706/research-priorities-in-limb-and-task-specific-dystonias
#15
REVIEW
Sarah Pirio Richardson, Eckart Altenmüller, Katharine Alter, Ron L Alterman, Robert Chen, Steven Frucht, Shinichi Furuya, Joseph Jankovic, H A Jinnah, Teresa J Kimberley, Codrin Lungu, Joel S Perlmutter, Cecília N Prudente, Mark Hallett
Dystonia, which causes intermittent or sustained abnormal postures and movements, can present in a focal or a generalized manner. In the limbs, focal dystonia can occur in either the upper or lower limbs and may be task-specific causing abnormal motor performance for only a specific task, such as in writer's cramp, runner's dystonia, or musician's dystonia. Focal limb dystonia can be non-task-specific and may, in some circumstances, be associated with parkinsonian disorders. The true prevalence of focal limb dystonia is not known and is likely currently underestimated, leaving a knowledge gap and an opportunity for future research...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28510682/musician-s-focal-dystonia
#16
Joanna White
No abstract text is available yet for this article.
May 16, 2017: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/28438790/psychiatric-associations-of-adult-onset-focal-dystonia-phenotypes
#17
Brian D Berman, Johanna Junker, Erika Shelton, Stefan H Sillau, H A Jinnah, Joel S Perlmutter, Alberto J Espay, Joseph Jankovic, Marie Vidailhet, Cecilia Bonnet, William Ondo, Irene A Malaty, Ramón Rodríguez, William M McDonald, Laura Marsh, Mateusz Zurowski, Tobias Bäumer, Norbert Brüggemann
BACKGROUND: Depression and anxiety frequently accompany the motor manifestations of isolated adult-onset focal dystonias. Whether the body region affected when this type of dystonia first presents is associated with the severity of these neuropsychiatric symptoms is unknown. OBJECTIVES: The aim of this study was to determine whether depression, anxiety and social anxiety vary by dystonia onset site and evaluate whether pain and dystonia severity account for any differences...
April 24, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28411331/glutaric-acidemia-type-1-a-case-of-infantile-stroke
#18
Gül Demet Kaya Ozcora, Songul Gokay, Mehmet Canpolat, Fatih Kardaş, Mustafa Kendirci, Sefer Kumandaş
BACKGROUND: Glutaric acidemia Type 1 (GA-1) is an autosomal recessively inherited metabolic disorder which is associated with GCDH gene mutations which alters the glutaryl-CoA dehydrogenase, an enzyme playing role in the catabolic pathways of the amino acids lysine, hydroxylysine, and tryptophan. Clinical findings are often encephalopathic crises, dystonia, and extrapyramidal symptoms. CASE REPORT: A 9-month-old male infant referred to our department with focal tonic-clonic seizures during rotavirus infection and acute infarcts in MRI...
April 15, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28401296/associations-of-specific-psychiatric-disorders-with-isolated-focal-dystonia-and-monogenic-and-idiopathic-parkinson-s-disease
#19
Susanne Steinlechner, Johann Hagenah, Hans-Jürgen Rumpf, Christian Meyer, Ulrich John, Tobias Bäumer, Norbert Brüggemann, Meike Kasten, Alexander Münchau, Christine Klein, Rebekka Lencer
Comorbidity of psychiatric disorders in patients with movement disorders is common. Often, psychiatric symptoms manifest before the onset of the movement disorder, thus not representing a mere reaction to its burden. How the disease mechanisms of psychiatric and movement disorders are related is still poorly understood. The aim of the present study was to compare prevalence rates of specific psychiatric disorders between different movement disorders including isolated focal dystonia (IFD, N = 91), monogenic Parkinson's disease (PD, N = 41), idiopathic PD (N = 45), and a sample from a Northern Germany general population (TACOS Study; N = 4075)...
June 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28382611/parkinsonism-or-other-movement-disorders-presenting-as-stroke-mimics
#20
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
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