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Focal dystonia

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https://www.readbyqxmd.com/read/29238711/long-term-dose-stability-of-onabotulinumtoxina-injection-for-adductor-spasmodic-dysphonia-a-19-year-single-institution-experience
#1
Paul Paddle, Inna Husain, Christine Moniz, Scott Turner, Ramon Arturo Franco
Objectives: Adductor spasmodic dysphonia (AdSD) is a focal dystonia predominantly involving the laryngeal adductor muscles. AdSD is reported to be a largely non-progressive neurological disorder, though fluctuations in symptom severity do occur. Repeated laryngeal onabotulinumtoxinA (BTX-A) injections are the primary management for AdSD. A number of studies have demonstrated long-term dose stability as evidence of this long-term disease stability. Methods: A retrospective review was performed on all patients undergoing BTX-A injections for AdSD from April 1994 to September 2013 by a single laryngologist at a tertiary referral laryngology center...
2017: Frontiers in Surgery
https://www.readbyqxmd.com/read/29234300/temporal-discrimination-mechanisms-and-relevance-to-adult-onset-dystonia
#2
REVIEW
Antonella Conte, Eavan M McGovern, Shruti Narasimham, Rebecca Beck, Owen Killian, Sean O'Riordan, Richard B Reilly, Michael Hutchinson
Temporal discrimination is the ability to determine that two sequential sensory stimuli are separated in time. For any individual, the temporal discrimination threshold (TDT) is the minimum interval at which paired sequential stimuli are perceived as being asynchronous; this can be assessed, with high test-retest and inter-rater reliability, using a simple psychophysical test. Temporal discrimination is disordered in a number of basal ganglia diseases including adult-onset dystonia, of which the two most common phenotypes are cervical dystonia and blepharospasm...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/29231958/medical-issues-in-playing-the-oboe-a-literature-review
#3
REVIEW
Sofia Banzhoff, Maria Del Mar Ropero, Gabriele Menzel, Tatjana Salmen, Manfred Gross, Philipp P Caffier
Playing a musical instrument can affect physical and mental health. A literature review was conducted to determine the prevalence of health problems among oboists, which medical conditions can be caused or exacerbated by playing, whether oboe playing can be a protective factor, and whether recommendations are possible as to who should or should not play the oboe. Searches in 7 databases (Medline, Embase, Cochrane Library, Web of Science, SocIndex, PsyIndex, Psychinfo) yielded a total of 950 studies; after exclusion of duplicates and those not meeting eligibility criteria, 37 articles were selected for final analysis...
December 2017: Medical Problems of Performing Artists
https://www.readbyqxmd.com/read/29230798/botulinum-toxin-type-a-therapy-for-cervical-dystonia
#4
REVIEW
Mafalda Castelão, Raquel E Marques, Gonçalo S Duarte, Filipe B Rodrigues, Joaquim Ferreira, Cristina Sampaio, Austen P Moore, João Costa
BACKGROUND: This is an update of a Cochrane Review first published in 2005. Cervical dystonia is the most common form of focal dystonia and is a highly disabling movement disorder characterised by involuntary, usually painful, head posturing. Currently, botulinum toxin type A (BtA) is considered the first line therapy for this condition. OBJECTIVES: To compare the efficacy, safety, and tolerability of botulinum toxin type A (BtA) versus placebo in people with cervical dystonia...
December 12, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29208327/botulinum-toxin-a-for-patients-with-orofacial-dystonia-prospective-observational-single-centre-study
#5
G Ruiz-de-León-Hernández, R-M Díaz-Sánchez, D Torres-Lagares, E Hernández-Pacheco, M González-Martín, M-A Serrera-Figallo
The objective of this study was to demonstrate the efficacy of intramuscular botulinum toxin type A (BTX-A) as a method of controlling the symptoms of focal facial dystonia. A prospective, longitudinal, observational, pre-post (case-series) single-centre study was conducted over a period of 3 months, involving 30 patients with focal dystonia. The patients were enrolled on a first-come, first-served basis. For all patients, the abnormal movements were evaluated using the Abnormal Involuntary Movement Scale (AIMS)...
December 2, 2017: International Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/29194506/imbalance-of-the-direct-and-indirect-pathways-in-focal-dystonia-a-balanced-view
#6
Koji Fujita, David Eidelberg
No abstract text is available yet for this article.
December 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29171013/severe-infantile-onset-developmental-and-epileptic-encephalopathy-caused-by-mutations-in-autophagy-gene-wdr45
#7
Gemma L Carvill, Aijie Liu, Simone Mandelstam, Amy Schneider, Amy Lacroix, Matthew Zemel, Jacinta M McMahon, Luis Bello-Espinosa, Mark Mackay, Geoffrey Wallace, Michaela Waak, Jing Zhang, Xiaoling Yang, Stephen Malone, Yue-Hua Zhang, Heather C Mefford, Ingrid E Scheffer
Heterozygous de novo variants in the autophagy gene, WDR45, are found in beta-propeller protein-associated neurodegeneration (BPAN). BPAN is characterized by adolescent onset dementia and dystonia; 66% patients have seizures. We asked whether WDR45 was associated with developmental and epileptic encephalopathy (DEE). We performed next generation sequencing of WDR45 in 655 patients with developmental and epileptic encephalopathies. We identified 3/655 patients with DEE plus 4 additional patients with de novo WDR45 pathogenic variants (6 truncations, 1 missense); all were female...
November 24, 2017: Epilepsia
https://www.readbyqxmd.com/read/29167328/perceptual-decisions-based-on-previously-learned-information-are-independent-of-dopaminergic-tone
#8
Alessandra Perugini, Michele A Basso
Both cognitive and motor symptoms in people with Parkinson's disease (PD) arise from either too little or too much dopamine (DA). Akinesia stems from DA neuronal cell loss and dyskinesia often stems from an overdose of DA medication. Cognitive behaviors typically associated with frontal cortical function such as working memory and task switching are also affected by too little or too much DA in PD. Whether motor and cognitive circuits overlap in PD is unknown. Here, we show that whereas motor performance improves in people with PD when on dopaminergic medication compared to off medication, memory-based decision-making performance remains impaired whether on or off medications...
November 22, 2017: Journal of Neurophysiology
https://www.readbyqxmd.com/read/29135566/management-of-hypertonia-in-cerebral-palsy
#9
Nickolas J Nahm, H Kerr Graham, Mark E Gormley, Andrew G Georgiadis
PURPOSE OF REVIEW: The review provides an update on the treatment of hypertonia in cerebral palsy, including physical management, pharmacotherapy, neurosurgical, and orthopedic procedures. RECENT FINDINGS: Serial casting potentiates the effect of Botulinum neurotoxin A injections for spasticity. Deep brain stimulation, intraventricular baclofen, and ventral and dorsal rhizotomy are emerging tools for the treatment of dystonia and/or mixed tone. The long-term results of selective dorsal rhizotomy and the timing of orthopedic surgery represent recent advances in the surgical management of hypertonia...
November 11, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/29117296/polygenic-risk-of-spasmodic-dysphonia-is-associated-with-vulnerable-sensorimotor-connectivity
#10
Gregory Garbès Putzel, Giovanni Battistella, Anna F Rumbach, Laurie J Ozelius, Mert R Sabuncu, Kristina Simonyan
Spasmodic dysphonia (SD), or laryngeal dystonia, is an isolated task-specific dystonia of unknown causes and pathophysiology that selectively affects speech production. Using next-generation whole-exome sequencing in SD patients, we computed polygenic risk score from 1804 genetic markers based on a genome-wide association study in another form of similar task-specific focal dystonia, musician's dystonia. We further examined the associations between the polygenic risk score, resting-state functional connectivity abnormalities within the sensorimotor network, and SD clinical characteristics...
November 19, 2016: Cerebral Cortex
https://www.readbyqxmd.com/read/29113853/hyperkinetic-transient-ischemic-attacks-preceding-deep-ganglionic-infarction-in-a-patient-with-a-treated-parasellar-chondrosarcoma
#11
Michael W Ruff, Adip G Bhargav, Stephen W English, James P Klaas
A 44-year-old right-handed female with a past medical history of parasellar chondrosarcoma status post-surgical debulking and proton beam therapy (70 Gy) three years prior to presentation experienced several hours of brief, repetitive episodes of transient hemiballism and dystonia; this was followed by abrupt onset of fixed hemiparesis and dysarthria weeks later, ipsilateral to her prior hyperkinetic movements. She was found to have total occlusion of the right middle cerebral artery with focal stenosis of the proximal right A-1 segment of the anterior cerebral artery adjacent to the remnants of the chondrosarcoma...
November 4, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/29111426/when-movement-disorders-hurt-addressing-pain-in-hyperkinetic-disorders
#12
Maja Relja, Vladimir Miletić
Pain is an important nonmotor symptom in movement disorders. Dystonia is a hyperkinetic movement disorder characterized by involuntary, sustained or intermittent muscle contractions causing abnormal movements, postures or both. Contrary to common views the nonmotor symptoms are present in dystonia patients. Pain is a prevailing feature of cervical dystonia (CD), the most common form of focal dystonia. The mechanism of pain in CD remains mostly unknown, but there are growing evidence that it could not be only the consequence of muscle hyperactivity...
August 10, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/29111119/direct-central-nervous-system-effects-of-botulinum-neurotoxin
#13
Matteo Caleo, Laura Restani
Local intramuscular injections of botulinum neurotoxin type A (BoNT/A) are effective in the treatment of focal dystonias, muscle spasms, and spasticity. However, not all clinical effects of BoNT/A may be explained by its action at peripheral nerve terminals. For example, the therapeutic benefit may exceed the duration of the peripheral neuroparalysis induced by the neurotoxin. In cellular and animal models, evidence demonstrates retrograde transport of catalytically active BoNT/A in projection neurons. This process of long-range trafficking is followed by transcytosis and action at second-order synapses...
October 31, 2017: Toxicon: Official Journal of the International Society on Toxinology
https://www.readbyqxmd.com/read/29109905/abnormalities-of-eye-hand-coordination-in-patients-with-writer-s-cramp-possible-role-of-the-cerebellum
#14
Ketan Jhunjhunwala, Raviteja Kotikalapudi, Abhishek Lenka, Kandavel Thennarassu, Ravi Yadav, Jitender Saini, Pramod Kumar Pal
Background: Writer's cramp (WC) is one of the commonly observed focal dystonias. The pathophysiology of WC has not been fully understood. The role of the cerebellum has been increasingly recognized in the pathogenesis of dystonia. As the cerebellum is crucial for maintaining accurate eye-hand coordination (EHC), its role in the pathogenesis of WC can be investigated by studying the EHC in patients with WC. Methods: Fifteen patients with WC (women:men, 3:12) and 15 age- and gender-matched controls performed oculomotor and EHC tasks...
2017: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/29101737/is-perception-of-visual-verticality-intact-in-patients-with-idiopathic-cervical-dystonia
#15
Joke De Pauw, Willem De Hertogh, Rudy Mercelis, Wim Saeys, Ann Hallemans, Sarah Michiels, Steven Truijen, Patrick Cras
Idiopathic cervical dystonia (CD) is a focal dystonia characterized by an abnormal tilted or twisted head position. This abnormal head position could lead to a distorted perception of the visual vertical and spatial orientation. The aim of this cross-sectional study was to investigate whether the perception of the visual vertical is impaired in patients with CD. The subjective visual vertical test (SVV) was measured in 24 patients with CD and 30 controls. The SVV test is conducted in a completely darkened room...
November 3, 2017: Acta Neurologica Belgica
https://www.readbyqxmd.com/read/29099066/chemodenervation-of-the-larynx
#16
REVIEW
Rachel Kaye, Andrew Blitzer
Botulinum neurotoxin (BoNT) has existed for thousands of years; however, it was not medically utilized until investigations into its therapeutic use began in sincerity during the late 1970s and 1980s. This, coupled with the reclassification of spasmodic dysphonia as a focal dystonia, led to the use of chemodenervation for this disorder, which has since become a refined technique. Indeed, due to its safety and efficacy, BoNT has been investigated in multiple neurolaryngology disorders, including spasmodic dysphonia, vocal tremor, and muscle tension dysphonia...
November 2, 2017: Toxins
https://www.readbyqxmd.com/read/29062685/loss-of-inhibition-in-sensorimotor-networks-in-focal-hand-dystonia
#17
Cecile Gallea, Priyantha Herath, Valerie Voon, Alicja Lerner, John Ostuni, Ziad Saad, Shantalaxmi Thada, Jeffrey Solomon, Silvina G Horovitz, Mark Hallett
OBJECTIVE: To investigate GABA-ergic receptor density and associated brain functional and grey matter changes in focal hand dystonia (FHD). METHODS: 18 patients with FHD of the right hand and 18 age and gender matched healthy volunteers (HV) participated in this study. We measured the density of GABA-A receptors using [(11)C] Flumazenil and perfusion using [(15)O] H2O. Anatomical images were also used to measure grey matter volume with voxel-based morphometry (VBM)...
2018: NeuroImage: Clinical
https://www.readbyqxmd.com/read/29062576/does-the-somatosensory-temporal-discrimination-threshold-change-over-time-in-focal-dystonia
#18
Antonella Conte, Gina Ferrazzano, Daniele Belvisi, Nicoletta Manzo, Antonio Suppa, Giovanni Fabbrini, Alfredo Berardelli
BACKGROUND: The somatosensory temporal discrimination threshold (STDT) is defined as the shortest interval at which an individual recognizes two stimuli as asynchronous. Some evidence suggests that STDT depends on cortical inhibitory interneurons in the basal ganglia and in primary somatosensory cortex. Several studies have reported that the STDT in patients with dystonia is abnormal. No longitudinal studies have yet investigated whether STDT values in different forms of focal dystonia change during the course of the disease...
2017: Neural Plasticity
https://www.readbyqxmd.com/read/28983422/speech-language-pathology-evaluation-and-management-of-hyperkinetic-disorders-affecting-speech-and-swallowing-function
#19
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
#20
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
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