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The effectiveness of a novel surgical approach for the treatment of congenital muscular torticollis.

Jianlin Shan, Heng Jiang, Yang Zhang, Zhicheng Zhang, Dajiang Ren, Bing Zhu,

The outcomes of surgical treatment for congenital muscular torticollis (CMT) are poor in many cases, primarily from surgeon's fear of damage to important blood vessels in the carotid sheath. The current research aimed to establish a novel, safer and more effective surgical approach for the treatment of CMT based on ... Read more >>

Medicine (Baltimore) (Medicine)
[2020, 99(14):e19572]

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Pallidal 1/f asymmetry in patients with cervical dystonia.

Ulia Semenova, Valentin Popov, Alexey Tomskiy, Aasef G Shaikh, Alexey Sedov,

Lateralized differences in pallidal outflow are putatively linked to asymmetric tonic contractions of the neck muscles in cervical dystonia (CD). At the population level, the interhemispheric asymmetry has been traditionally studied for the estimation of the spectral power in specified frequency bands. Broadband spectral features, however, were not taken into ... Read more >>

Eur. J. Neurosci. (The European journal of neuroscience)
[2020, :]

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Preferred muscles in cervical dystonia.

Wolfgang H Jost, Bo Biering-Sørensen, Artur Drużdż, Alexandre Kreisler, Sanjay Pandey, Jarosław Sławek, Laurent Tatu,

The classification of abnormal posture and the assessment of the affected muscles in cervical dystonia (CD) have changed in recent years. To determine the frequency of injected muscles, we studied 306 patients with CD. The mean age was 55.5 ± 13.1 years (range 21-90), 67% were female. Splenius capitis was ... Read more >>

Neurol. Neurochir. Pol. (Neurologia i neurochirurgia polska)
[2020, :]

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Defective Human Motion Perception in Cervical Dystonia Correlates with Coexisting Tremor.

Davide Martino, Gaia Bonassi, Giovanna Lagravinese, Elisa Pelosin, Giovanni Abbruzzese, Laura Avanzino,

BACKGROUND:The ability to predict temporal outcome of body movement is abnormal in idiopathic dystonia and can be altered by cerebellar neuromodulation. Tremor in cervical dystonia might be associated with performance on motion perception tasks. METHODS:A total of 15 cervical dystonia patients with and 14 without tremor and 15 age-matched healthy ... Read more >>

Mov. Disord. (Movement disorders : official journal of the Movement Disorder Society)
[2020, :]

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Surgical treatment for atlantoaxial rotatory fixation in an adult with spastic torticollis: A case report.

Yuki Akiyama, Hiroshi Takahashi, Junya Saito, Yasuchika Aoki, Arata Nakajima, Masato Sonobe, Yorikazu Akatsu, Manabu Yamada, Keita Yanagisawa, Yasuhiro Shiga, Kazuhide Inage, Sumihisa Orita, Yawara Eguchi, Satoshi Maki, Takeo Furuya, Tsutomu Akazawa, Masao Koda, Masashi Yamazaki, Seiji Ohtori, Koichi Nakagawa,

Atlantoaxial rotatory fixation (AARF) in an adult without any trauma is an extremely rare condition. Here we report a case of surgical treatment for existing atlantoaxial rotatory fixation in an adult with spastic torticollis. A 50-year-old man had become aware of torticollis without any cause of injury 6 weeks before he ... Read more >>

J Clin Neurosci (Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia)
[2020, :]

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Predictive factors of outcome in cervical dystonia following deep brain stimulation: an individual patient data meta-analysis.

Xing Hua, Bohan Zhang, Zhicheng Zheng, Houyou Fan, Linfeng Luo, Xiaosi Chen, Jian Duan, Dongwei Zhou, Meihua Li, Tao Hong, Guohui Lu,

BACKGROUND:Deep brain stimulation (DBS) therapy has been suggested to be a beneficial alternative in cervical dystonia (CD) for patients who failed nonsurgical treatments. This individual patient data meta-analysis compared the efficacy of DBS in the globus pallidus internus (GPi) versus subthalamic nucleus (STN) and identified possible predictive factors for CD. ... Read more >>

J. Neurol. (Journal of neurology)
[2020, :]

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Musculoskeletal abnormalities in a large international cohort of boys with 49,XXXXY.

Laura Tosi, Francie Mitchell, Grace F Porter, Leigh Ruland, Andrea Gropman, Patricia C Lasutschinkow, Selena L Tran, Elmer N Rajah, Austin P Gillies, Patricia Hendrie, Rick Peret, Teresa Sadeghin, Carole A Samango-Sprouse,

49,XXXXY is the rarest X and Y chromosomal variation, with an incidence of 1 in 80,000-100,000 live male births and has been associated with numerous musculoskeletal abnormalities. Data was collected from an international cohort of boys with 49,XXXXY over 10 years. Children were evaluated by a multidisciplinary team consisting of a ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, :]

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Pallidal Activity in Cervical Dystonia with and Without Head Tremor.

Alexey Sedov, Svetlana Usova, Ulia Semenova, Anna Gamaleya, Alexey Tomskiy, Sinem B Beylergil, H A Jinnah, Aasef G Shaikh,

The relationship between two common movement disorders, dystonia and tremor, is controversial. Both deficits have correlates in the network that includes connections between the cerebellum and the basal ganglia. In order to assess the physiological relationship between tremor and dystonia, we measured the activity of 727 pallidal single-neurons during deep ... Read more >>

Cerebellum (Cerebellum (London, England))
[2020, :]

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[Clinical and genetic analysis of a case with infantile Parkinsonism with motor delay due to tyrosine hydroxylase deficiency].

Chongfen Chen, Jinghui Kong, Lili Ge, Lei Liu, Yinsen Song,

OBJECTIVE:To explore the clinical characteristics and genetic variants in a child with tyrosine hydroxylase-deficient infantile Parkinsonism with motor delay. METHODS:Clinical feature of the patient was summarized. Genomic DNA was extracted from peripheral blood samples taken from the child and her family members. All exons of GCH1, TH and SPR genes ... Read more >>

Zhonghua Yi Xue Yi Chuan Xue Za Zhi (Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics)
[2020, 37(4):455-458]

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Neurodevelopmental outcome of prenatally diagnosed boys with 47,XXY (Klinefelter syndrome) and the potential influence of early hormonal therapy.

Carole A Samango-Sprouse, Selena L Tran, Patricia C Lasutschinkow, Teresa Sadeghin, Sherida Powell, Francie L Mitchell, Andrea Gropman,

This cross-sectional study examined the neurodevelopment of a large, prenatally diagnosed population of boys with 47,XXY; investigated the potentially positive effects of early hormonal therapy (EHT) on language, cognition, and motor in this population; and identified novel at risk biomarkers associated with 47,XXY. Two-hundred and seventy two evaluations were collected ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, :]

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Patient-reported responses to medical treatment in primary dystonia.

Kyung Ah Woo, Han-Joon Kim, Dallah Yoo, Ji-Hyun Choi, Junghwan Shin, Sangmin Park, Ryul Kim, Beomseok Jeon,

In the absence of pathogenesis-targeted therapy in most types of primary dystonia, the current management strategy is largely symptomatic. Our aim was to comparatively evaluate the patients' perception of symptomatic benefits with the medical treatment of primary dystonia. We reviewed the medical records of 206 patients who received medical treatment ... Read more >>

J Clin Neurosci (Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia)
[2020, :]

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[Highly dosed Anderson and Kestenbaum operations for anomalous head posture due to nystagmus].

Michael Gräf, Anja Hausmann, Dominik Kowanz, Birgit Lorenz,

BACKGROUND:The correction of anomalous head posture associated with infantile nystagmus syndrome (INS) is carried out by the Kestenbaum procedure (KP) combining bilateral horizontal yoke muscle recession with resection of their antagonists or by the Anderson procedure (AP) which is confined to yoke muscle recession alone. AIM OF THE STUDY:To compare ... Read more >>

Ophthalmologe (Der Ophthalmologe)
[2020, :]

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[Dystonia Non-Motor Symptoms Questionnaire (DNMSQuest) for assessment of non-motor symptoms in dystonia : Intercultural adaptation in the German language].

L Klingelhoefer, W Jost, P Odin, A Storch, K Ray Chaudhuri, H Reichmann,

BACKGROUND:Non-motor symptoms (NMS) in patients with dystonia have a relevant impact on health-related quality of life; however, a comprehensive easy to use NMS assessment tool for clinical bedside use is currently not available. OBJECTIVE:The validated German version of the dystonia non-motor symptoms questionnaire (DNMSQuest) for assessing NMS in craniocervical dystonia is presented. ... Read more >>

Nervenarzt (Der Nervenarzt)
[2020, :]

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Effect of Neck Botulinum Neurotoxin Injection on Proprioception and Somatosensory-Motor Cortical Processing in Cervical Dystonia.

Sanaz Khosravani, Jeffrey Buchanan, Matthew D Johnson, Jürgen Konczak,

Background. Cervical dystonia (CD) is a neurological movement disorder characterized by involuntary contractions of the cervical musculature and is known to be associated with proprioceptive dysfunction in dystonic/nondystonic limbs. Objectives. We examined how neck botulinum neurotoxin (BoNT) injection affects wrist proprioception and the corresponding sensorimotor cortical activity in CD. Method. ... Read more >>

Neurorehabil Neural Repair (Neurorehabilitation and neural repair)
[2020, :1545968320905799]

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Smell and taste in cervical dystonia.

Thorsten Herr, Thomas Hummel, Marcus Vollmer, Carsten Willert, Birgitt Veit, Julie Gamain, Robert Fleischmann, Bernhard Lehnert, Jan-Uwe Mueller, Andrea Stenner, Martin Kronenbuerger,

The pathophysiology of cervical dystonia is not completely understood. Current concepts of the pathophysiology propose that it is a network disorder involving the basal ganglia, cerebellum and sensorimotor cortex. These structures are primarily concerned with sensorimotor control but are also involved in non-motor functioning such as the processing of information ... Read more >>

J Neural Transm (Vienna) (Journal of neural transmission (Vienna, Austria : 1996))
[2020, 127(3):347-354]

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Subthalamic stimulation for cervical dystonia.

Alok Gupta,

The globus pallidus internus (GPi) has been the primary target for deep brain stimulation (DBS) to treat severe medication-refractory dystonia. Some patients with primary cervical dystonia do not respond adequately to GPi stimulation. Subthalamic nucleus (STN) DBS may provide an alternative choice for treating this dystonia. In this study, we ... Read more >>

Acta Neurochir (Wien) (Acta neurochirurgica)
[2020, :]

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Economic evaluation of AbobotulinumtoxinA vs OnabotulinumtoxinA in real-life clinical management of cervical dystonia.

V P Misra, N Danchenko, P Maisonobe, J Lundkvist, M Hunger,

Background:Botulinum neurotoxins type A (BoNT-As) are commonly used treatments for cervical dystonia (CD). Clinical trials have demonstrated the benefits of them in these patients, but data from real-life clinical practice as well as comparative data on the cost and outcome of different BoNT-A formulations are limited. The aim of this ... Read more >>

J Clin Mov Disord (Journal of clinical movement disorders)
[2020, 7:2]

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Clinical value of virtual touch tissue imaging quantification in diagnosis and treatment of congenital muscular torticollis in children.

Hongxia Luo, Tianran Li, Senmin Wu, Hui Zhu, Kai Chen, Lie Ma, Miaomiao Lin,

Background:This study aimed to evaluate the clinical value of virtual touch tissue imaging quantification (VTIQ) in the diagnosis and treatment of congenital muscular torticollis (CMT) in children. Methods:Sixty-two CMT children treated in the clinics of our hospital were collected, and then 62 CMT children treated with manipulation massage were followed ... Read more >>

Transl Pediatr (Translational pediatrics)
[2020, 9(1):13-20]

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[How to explore… a cervical dystonia].

F Depierreux, H Jedidi, P Y Hardy, E Parmentier, G Garraux,

Cervical dystonia is one of the most frequent form of focal dystonia. However, there's a great lack of awareness of this condition : a long delay to diagnosis is quite common and misdiagnosis is often seen. Nevertheless, this pathology is invalidating and improving diagnosis could have an impact on the ... Read more >>

Rev Med Liege (Revue medicale de Liege)
[2020, 75(2):121-124]

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Reply to letter to the editor, "A randomized study of botulinum toxin versus botulinum toxin plus physical therapy for treatment of cervical dystonia."

Wei Hu, Aparna Wagle Shukla,

Parkinsonism Relat. Disord. (Parkinsonism & related disorders)
[2020, :]

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Slowed luminance reaction times in cervical dystonia: Disordered superior colliculus processing.

Laura Williams, John S Butler, Martin Thirkettle, Tom Stafford, Brendan Quinlivan, Eavan McGovern, Sean O'Riordan, Peter Redgrave, Richard Reilly, Michael Hutchinson,

BACKGROUND:Abnormal temporal discrimination in cervical dystonia is hypothesized to be attributable to disrupted processing in the superior colliculus. The fast, luminance-based, retinotectal pathway, projects to the superior colliculus; chromatic stimuli responses, by the retino-geniculo-calcarine pathway, are up to 30 ms longer. OBJECTIVES:We sought to interrogate visual processing and reaction times ... Read more >>

Mov. Disord. (Movement disorders : official journal of the Movement Disorder Society)
[2020, :]

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Predictive factors for outcome of pallidal deep brain stimulation in cervical dystonia.

Xin Wang, Zhiqi Mao, Zhipei Ling, Xinguang Yu,

OBJECTIVE:Primary cervical dystonia (CD) is characterized by abnormal contractions of neck muscles. Globus pallidus internus deep brain stimulation (GPi-DBS) is recognized as an effective therapy for patients with refractory CD, but the prognostic factors need further research. Our study investigated the predictive factors of clinical outcomes in CD patients who ... Read more >>

Clin Neurol Neurosurg (Clinical neurology and neurosurgery)
[2020, 192:105720]

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Spinal epidural hematoma without significant trauma in children: two case reports and review of the literature.

Audrey Carlhan-Ledermann, Bernard Laubscher, Maja Steinlin, Christian T Ulrich, Rajeev Kumar Verma, Mattia Rizzi, Rodolfo Maduri, Sebastian Grunt,

BACKGROUND:Spinal epidural hematoma without significant trauma is a rare condition with potentially severe outcome. This case report and systematic review of the literature illustrates the clinical presentation, risk factors, evaluation, treatment and outcomes of spinal epidural hematoma without significant trauma in children. CASE PRESENTATION:We report one case of a 7-year-old ... Read more >>

BMC Pediatr (BMC Pediatrics)
[2020, 20(1):77]

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Characterizing vocal tremor in progressive neurological diseases via automated acoustic analyses.

Jan Hlavnička, Tereza Tykalová, Olga Ulmanová, Petr Dušek, Dana Horáková, Evžen Růžička, Jiří Klempíř, Jan Rusz,

OBJECTIVE:Voice tremor represents a common but frequently overlooked clinical feature of neurological disease. Therefore, we aimed to quantitatively and objectively assess the characteristics of voice tremor in a large sample of patients with various progressive neurological diseases. METHODS:Voice samples were acquired from 240 patients with neurological disease and 40 healthy ... Read more >>

Clin Neurophysiol (Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology)
[2020, :]

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The Prevalence of Dystonic Tremor and Tremor Associated with Dystonia in Patients with Cervical Dystonia.

Lenka Hvizdošová, Martin Nevrlý, Pavel Otruba, Petr Hluštík, Petr Kaňovský, Jana Zapletalová,

The link between dystonia and tremor has been known for decades, but the question of whether they are two separate illnesses or just different manifestations of one disease with the same pathophysiological background remains unanswered. We distinguish two types of tremor in dystonia: dystonic tremor (DT), which appears on the ... Read more >>

Sci Rep (Scientific reports)
[2020, 10(1):1436]

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