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Neck dystonia

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https://www.readbyqxmd.com/read/29225908/an-unusual-presentation-of-tyrosine-hydroxylase-deficiency
#1
Linn E Katus, Steven J Frucht
Background: Dopa-responsive dystonia (DRD) has largely been associated with autosomal dominant mutations in the GCH1 gene leading to GTP cyclohydrolase 1 deficiency. More recently, a deficiency in tyrosine hydroxylase (TH) has been recognized to cause DRD. This is a rare disorder resulting from genetic mutations in the TH gene on chromosome 11. The phenotype ranges from DRD with complete resolution on levodopa to infantile parkinsonism and encephalopathy only partially responsive to levodopa...
2017: Journal of Clinical Movement Disorders
https://www.readbyqxmd.com/read/29196716/disrupted-superior-collicular-activity-may-reveal-cervical-dystonia-disease-pathomechanisms
#2
Eavan M Mc Govern, Owen Killian, Shruti Narasimham, Brendan Quinlivan, John B Butler, Rebecca Beck, Ines Beiser, Laura W Williams, Ronan P Killeen, Michael Farrell, Sean O'Riordan, Richard B Reilly, Michael Hutchinson
Cervical dystonia is a common neurological movement disorder characterised by muscle contractions causing abnormal movements and postures affecting the head and neck. The neural networks underpinning this condition are incompletely understood. While animal models suggest a role for the superior colliculus in its pathophysiology, this link has yet to be established in humans. The present experiment was designed to test the hypothesis that disrupted superior collicular processing is evident in affected patients and in relatives harbouring a disease-specific endophenotype (abnormal temporal discrimination)...
December 1, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29173657/sonographic-guide-for-botulinum-toxin-injections-of-the-neck-muscles-in-cervical-dystonia
#3
REVIEW
Bayram Kaymak, Murat Kara, Eda Gürçay, Levent Özçakar
Intramuscular botulinum toxin (BoTX) injection is the first-line treatment of cervical dystonia. Poor treatment outcomes and some side effects, however, have been reported after BoTX applications. One of the most important reasons is incorrect localization of the needle during toxin injections. Without imaging, it is impossible to verify precise needle positioning in the proper muscle. Ultrasound has been recommended because of its high capability in illustrating most of the neck muscles. This review article discusses how ultrasound imaging can be used to scan/access neck muscles, mainly from the perspective of BoTX injections...
February 2018: Physical Medicine and Rehabilitation Clinics of North America
https://www.readbyqxmd.com/read/29143206/characteristics-of-two-distinct-clinical-phenotypes-of-functional-psychogenic-dystonia-follow-up-study
#4
Igor N Petrović, Aleksandra Tomić, Marija Mitković Vončina, Danilo Pešić, Vladimir S Kostić
BACKGROUND: The fixed dystonia phenotype was originally established as a prototype of functional dystonia. Nevertheless, in recent reports different functional dystonia phenotypes have been recognized with dystonic movement comprising phasic instead of tonic contraction. OBJECTIVES: To examine clinical characteristic in all patients with dystonia who fulfilled the criteria for functional movement disorders irrespective of phenotype in an attempt to determine parameters of clinical presentations that might impact the disease progression pattern and outcome...
November 15, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/29106650/selective-cervical-denervation-for-cervical-dystonia-modification-of-the-bertrand-procedure
#5
Thomas J Wilson, Robert J Spinner
BACKGROUND: Cervical dystonia, commonly referred to as spasmodic torticollis, is a neurological disorder characterized by aberrant, involuntary contraction of the muscles of the neck and shoulders. One surgical option that can be considered is selective cervical denervation. OBJECTIVE: To report our modification of the Bertrand procedure for selective cervical denervation. METHODS: Our modification of the Bertrand procedure for selective cervical denervation is reported with intraoperative photographs and schematic depictions of the operative steps...
July 6, 2017: Operative Neurosurgery (Hagerstown, Md.)
https://www.readbyqxmd.com/read/28948067/cervical-sensorimotor-control-in-idiopathic-cervical-dystonia-a%C3%A2-cross-sectional-study
#6
Joke De Pauw, Rudy Mercelis, Ann Hallemans, Sarah Michiels, Steven Truijen, Patrick Cras, Willem De Hertogh
OBJECTIVES: Patients with idiopathic adult-onset cervical dystonia (CD) experience an abnormal head posture and involuntary muscle contractions. Although the exact areas affected in the central nervous system remain uncertain, impaired functions in systems stabilizing the head and neck are apparent such as the somatosensory and sensorimotor integration systems. The aim of the study is to investigate cervical sensorimotor control dysfunction in patients with CD. MATERIAL AND METHODS: Cervical sensorimotor control was assessed by a head repositioning task in 24 patients with CD and 70 asymptomatic controls...
September 2017: Brain and Behavior
https://www.readbyqxmd.com/read/28802760/involvement-of-obliquus-capitis-inferior-muscle-in-dystonic-head-tremor
#7
A Schramm, D Huber, C Möbius, A Münchau, Z Kohl, T Bäumer
INTRODUCTION: Head tremor is a common feature in cervical dystonia (CD) and often less responsive to botulinum neurotoxin (BoNT) treatment than dystonic posturing. Ultrasound allows accurate targeting of deeper neck muscles. METHODS: In 35 CD patients with dystonic head tremor the depth and thickness of the splenius capitis (SPL), semispinalis capitis and obliquus capitis inferior muscles (OCI) were assessed using ultrasound. Ultrasound guided EMG recordings were performed from the SPL and OCI...
August 1, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28734794/botulinum-toxin-a-is-effective-to-treat-tension-type-headache-caused-by-hemifacial-spasm
#8
Atsushi Mizuma, Eiichiro Nagata, Takashi Yasuda, Maiko Kouchi, Taira Nakayama, Kazunari Honma, Kentaro Tokuoka, Yasuhisa Kitagawa, Shigeru Nogawa, Shunya Takizawa
OBJECTIVE: We examined the relationship between hemifacial spasm (HFS; a form of cranio-cervical dystonia) and chronic primary headache, including tension-type headache (TTH). We also examined whether botulinum toxin A (BoNT/A) therapy for HFS ameliorates concomitant TTH. METHODS: Fifty-one HFS patients receiving BoNT/A therapy were recruited. Patients' characteristics (including age, gender, chronic headache history, exercise habits, stiff neck, cervical spondylolysis history), stress factors, worsening/new onset of headache associated with HFS, and dose of BoNT/A were examined...
October 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28706744/management-of-oromandibular-dystonia-a-case-report-and-literature-update
#9
Suma Gn, Adrita Nag
Oromandibular dystonia (OMD) is a movement disorder characterized by involuntary, paroxysmal, and patterned muscle contractions of varying severity resulting in sustained spasms of masticatory muscles, affecting the jaws, tongue, face, and pharynx. It is most commonly idiopathic or medication-induced, but peripheral trauma sometimes precedes the condition. We present a case report of a 26-year-old female patient who suffered repetitive bouts of hemifacial muscle contractions for 2 years on closing the mouth which interfered in patient's well-being and quality of life by hampering her ability to eat and talk and to the extent of inability to breath due to contractions of her neck muscles...
2017: Case Reports in Dentistry
https://www.readbyqxmd.com/read/28594097/functional-activity-of-the-sensorimotor-cortex-and-cerebellum-relates-to-cervical-dystonia-symptoms
#10
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/28511835/adcy5-related-movement-disorders-frequency-disease-course-and-phenotypic-variability-in-a-cohort-of-paediatric-patients
#11
Miryam Carecchio, Niccolò E Mencacci, Alessandro Iodice, Roser Pons, Celeste Panteghini, Giovanna Zorzi, Federica Zibordi, Anastasios Bonakis, Argyris Dinopoulos, Joseph Jankovic, Leonidas Stefanis, Kailash P Bhatia, Valentina Monti, Lea R'Bibo, Liana Veneziano, Barbara Garavaglia, Carlo Fusco, Nicholas Wood, Maria Stamelou, Nardo Nardocci
INTRODUCTION: ADCY5 mutations have been recently identified as an important cause of early-onset hyperkinetic movement disorders. The phenotypic spectrum associated with mutations in this gene is expanding. However, the ADCY5 mutational frequency in cohorts of paediatric patients with hyperkinetic movement disorders has not been evaluated. METHODS: We performed a screening of the entire ADCY5 coding sequence in 44 unrelated subjects with genetically undiagnosed childhood-onset hyperkinetic movement disorders, featuring chorea alone or in combination with myoclonus and dystonia...
August 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28488615/sensory-tricks-in-primary-blepharospasm-and-idiopathic-cervical-dystonia
#12
Sanjay Pandey, Gulab Soni, Neelav Sarma
OBJECTIVE: To study the frequency, types, phenomenology, and effectiveness of sensory tricks in patients with primary blepharospasm and idiopathic cervical dystonia. BACKGROUND: Sensory tricks are maneuvers seen in patients with dystonia, which are used to temporarily reduce the severity of dystonic postures. In different types of dystonia, the frequency of sensory tricks have been described to range from 17-89%. MATERIALS AND METHODS: In this cross-sectional observational study, we analyzed the frequency, types, phenomenology, and effectiveness of sensory tricks in 20 patients with primary blepharospasm and 20 patients with idiopathic cervical dystonia, respectively...
May 2017: Neurology India
https://www.readbyqxmd.com/read/28458568/cost-effectiveness-analysis-of-abobotulinumtoxina-for-the-treatment-of-cervical-dystonia-in-the-united-kingdom
#13
Madhusubramanian Muthukumar, Kamal Desai, Seye Abogunrin, Timothy Harrower, Sylvie Gabriel, Jerome Dinet
BACKGROUND: Cervical dystonia (CD) involves painful involuntary contraction of the neck and shoulder muscles and abnormal posture in middle-aged adults. Botulinum neurotoxin type A (BoNT-A) is effective in treating CD but little is known about its associated cost-effectiveness. OBJECTIVE: To evaluate the cost-effectiveness of abobotulinumtoxinA for treating CD from the UK payer perspective. METHODS: A Markov model was developed to evaluate the cost-effectiveness of abobotulinum-toxinA versus best supportive care (BSC) in CD, with a lifetime horizon and health states for response, nonresponse, secondary nonresponse, and BSC in patients with CD (mean age: 53 years; 37% male)...
2017: ClinicoEconomics and Outcomes Research: CEOR
https://www.readbyqxmd.com/read/28431634/multicenter-observational-study-of-abobotulinumtoxina-neurotoxin-in-cervical-dystonia-the-anchor-cd-registry
#14
Richard M Trosch, Alberto J Espay, Daniel Truong, Ramon Gil, Carlos Singer, Peter A LeWitt, Mark F Lew, Michele Tagliati, Charles H Adler, Jack J Chen, Dominic Marchese, Cynthia L Comella
BACKGROUND: The ANCHOR-CD prospective observational registry study evaluated the effectiveness of abobotulinumtoxinA in adult idiopathic cervical dystonia (CD) in clinical practice. METHODS: Adults with CD were eligible. Treating physicians determined abobotulinumtoxinA dose and treatment interval. The primary endpoint was patient response rate (Toronto Western Spasmodic Torticollis Rating Scale [TWSTRS] score reduction≥25% and Patient Global Impression of Change [PGIC] score of +2 or +3 at Week 4 of Cycle 1)...
May 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28412603/impairments-of-balance-stepping-reactions-and-gait-in-people-with-cervical-dystonia
#15
Christopher Barr, Rhiannon Barnard, Lauren Edwards, Sheila Lennon, Lynley Bradnam
BACKGROUND: Impaired balance is common in neurological disorders. Cervical dystonia is a neurological movement disorder affecting the neck. The effect of this aberrant head posture on physical function is unknown. OBJECTIVES: To compare balance, mobility, gait and stepping reactions between ten people with cervical dystonia and ten control adults. METHODS: Spatiotemporal gait parameters and walking speed were assessed using a computerised walkway...
June 2017: Gait & Posture
https://www.readbyqxmd.com/read/28297686/-early-experience-with-the-vercise-sup-tm-sup-dbs-system-in-the-treatment-of-dystonic-tremor
#16
Yasushi Miyagi
Six cases of dystonic tremor were treated with the Vercise<sup>TM</sup> deep brain stimulation(DBS)system, which has the multiple independent current control(MICC)technology. The mean preoperative score of Burke-Fahn-Marsden dystonia rating scale was 16.2±9.4, which was reduced to 6.1±4.6 at 5 months postoperatively. A 65-year-old male presented an intractable dystonic tremor of the jaw, neck, and shoulders due to tardive syndrome. He experienced the successful tremor relief after unipolar DBS in the globus pallidus internus(GPi)with Vercise<sup>TM</sup> but complained of dysarthria...
March 2017: No Shinkei Geka. Neurological Surgery
https://www.readbyqxmd.com/read/28223858/the-therapeutic-usage-of-botulinum-toxin-botox-in-non-cosmetic-head-and-neck-conditions-an-evidence-based-review
#17
REVIEW
Kamran Habib Awan
Botulinum toxin (Botox) is an exotoxin produced from Clostridium botulinum. It blocks the release of acetylcholine from the cholinergic nerve end plates resulting in inactivity of the muscles or glands innervated. The efficacy of Botox in facial aesthetics is well established; however, recent literature has highlighted its utilization in multiple non-cosmetic medical and surgical conditions. The present article reviews the current evidence pertaining to Botox use in the non-cosmetic head and neck conditions...
January 2017: Saudi Pharmaceutical Journal: SPJ: the Official Publication of the Saudi Pharmaceutical Society
https://www.readbyqxmd.com/read/28218416/physiology-of-midbrain-head-movement-neurons-in-cervical-dystonia
#18
Alexey Sedov, Valentin Popov, Vladimir Shabalov, Svetlana Raeva, H A Jinnah, Aasef G Shaikh
BACKGROUND: Early theories for cervical dystonia, as promoted by Hassler, emphasized the role of the midbrain interstitial nucleus of Cajal. Focus then shifted to the basal ganglia, and it was further supported with the success of deep brain stimulation. Contemporary theories suggested the role of the cerebellum, but even more recent hypotheses renewed interest in the midbrain. Although the pretectum was visited on several occasions, we still do not know about the physiology of midbrain neurons in cervical dystonia...
June 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28192488/does-dystonic-muscle-activity-affect-sense-of-effort-in-cervical-dystonia
#19
Loïc Carment, Marc A Maier, Sophie Sangla, Vincent Guiraud, Serge Mesure, Marie Vidailhet, Påvel G Lindberg, Jean-Pierre Bleton
BACKGROUND: Focal dystonia has been associated with deficient processing of sense of effort cues. However, corresponding studies are lacking in cervical dystonia (CD). We hypothesized that dystonic muscle activity would perturb neck force control based on sense of effort cues. METHODS: Neck extension force control was investigated in 18 CD patients with different clinical features (7 with and 11 without retrocollis) and in 19 control subjects. Subjects performed force-matching and force-maintaining tasks at 5% and 20% of maximum voluntary contraction (MVC)...
2017: PloS One
https://www.readbyqxmd.com/read/28159584/botulinum-toxin-in-the-management-of-head-and-neck-disorders
#20
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...
April 2017: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
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