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1

Honey, C. Michael, Armaan K. Malhotra, Maja Tarailo-Graovac, Clara D. M. van Karnebeek, Gabriella Horvath, and Adi Sulistyanto. "GNAO1 Mutation–Induced Pediatric Dystonic Storm Rescue With Pallidal Deep Brain Stimulation." Journal of Child Neurology 33, no. 6 (2018): 413–16. http://dx.doi.org/10.1177/0883073818756134.

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Dystonic storm or status dystonicus is a life-threatening hyperkinetic movement disorder with biochemical alterations due to the excessive muscle contractions. The medical management can require pediatric intensive care unit admission and a combination of medications while the underlying trigger is managed. Severe cases may require general anesthesia and paralytic agents with intubation and may relapse when these drugs are weaned. Deep brain stimulation of the globus pallidum has been reported to terminate dystonic storm in several pediatric cases. We present a 10-year-old boy with a de novo G
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Johans, Stephen J., Kevin N. Swong, Ryan C. Hofler, and Douglas E. Anderson. "A Stepwise Approach: Decreasing Infection in Deep Brain Stimulation for Childhood Dystonic Cerebral Palsy." Journal of Child Neurology 32, no. 10 (2017): 871–75. http://dx.doi.org/10.1177/0883073817713900.

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Dystonia is a movement disorder characterized by involuntary muscle contractions, which cause twisting movements or abnormal postures. Deep brain stimulation has been used to improve the quality of life for secondary dystonia caused by cerebral palsy. Despite being a viable treatment option for childhood dystonic cerebral palsy, deep brain stimulation is associated with a high rate of infection in children. The authors present a small series of patients with dystonic cerebral palsy who underwent a stepwise approach for bilateral globus pallidus interna deep brain stimulation placement in order
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Chu, Virginia Way Tong, Dagmar Sternad, and Terence David Sanger. "Healthy and dystonic children compensate for changes in motor variability." Journal of Neurophysiology 109, no. 8 (2013): 2169–78. http://dx.doi.org/10.1152/jn.00908.2012.

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Successful reaching requires that we plan movements to compensate for variability in motor output. Previous studies have shown that healthy adults optimally incorporate estimates of motor variability when planning a pointing task. Children with dystonia have increased variability compared with healthy children. It is not known whether they are able to compensate appropriately for the increased variability and whether this compensation leads to changes in reaching behavior. We examined healthy children and those with increased motor variability due to secondary dystonia. Using a simple virtual
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di Biase, Lazzaro, Alessandro Di Santo, Maria Letizia Caminiti, Pasquale Maria Pecoraro, Simona Paola Carbone, and Vincenzo Di Lazzaro. "Dystonia Diagnosis: Clinical Neurophysiology and Genetics." Journal of Clinical Medicine 11, no. 14 (2022): 4184. http://dx.doi.org/10.3390/jcm11144184.

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Dystonia diagnosis is based on clinical examination performed by a neurologist with expertise in movement disorders. Clues that indicate the diagnosis of a movement disorder such as dystonia are dystonic movements, dystonic postures, and three additional physical signs (mirror dystonia, overflow dystonia, and geste antagonists/sensory tricks). Despite advances in research, there is no diagnostic test with a high level of accuracy for the dystonia diagnosis. Clinical neurophysiology and genetics might support the clinician in the diagnostic process. Neurophysiology played a role in untangling d
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Mercan, F. N., E. Bayram, and M. C. Akbostanci. "A glance on dystonias, how to recognize and handle them." NATIONAL JOURNAL OF NEUROLOGY, no. 3 (January 8, 2019): 22–29. http://dx.doi.org/10.28942/nnj.v1i3.178.

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Dystonia refers to an involuntary, repetitive, sustained, painful and twisting movements of the affected body part. This movement disorder was first described in 1911 by Hermain Oppenheim, and many studies have been conducted to understand the mechanism, the diagnosis and the treatment of dystonia ever since. However, there are still many unexplained aspects of this phenomenon. Dystonia is diagnosed by clinical manifestations, and various classifications are recommended for the diagnosis and the treatment. Anatomic classification, which is based on the muscle groups involved, is the most helpf
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Mercan, F. N., E. Bayram, and M. C. Akbostanci. "A GLANCE ON DYSTONIAS, HOW TO RECOGNIZE AND HANDLE THEM." National Journal of Neurology 1, no. 03 (2013): 33–40. http://dx.doi.org/10.61788/njn.v1i13.05.

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Dystonia refers to an involuntary, repetitive, sustained, painful and twisting movements of the affected body part. This movement disorder was first described in 1911 by Hermain Oppenheim, and many studies have been conducted to understand the mechanism, the diagnosis and the treatment of dystonia ever since. However, there are still many unexplained aspects of this phenomenon. Dystonia is diagnosed by clinical manifestations, and various classifications are recommended for the diagnosis and the treatment. Anatomic classification, which is based on the muscle groups involved, is the most helpf
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Kowacs, Pedro A., Hélio A. Ghizoni Teive, Elcio J. Piovesan, Jorge A. Zavala, and Lineu C. Werneck. "Botulinum-A toxin in the treatment of painful post-stroke nocturnal paroxysmal dystonia triggered by periodic limb movements of sleep: case report." Arquivos de Neuro-Psiquiatria 64, no. 4 (2006): 1027–29. http://dx.doi.org/10.1590/s0004-282x2006000600028.

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INTRODUCTION: Sleep disorders presenting involuntary movements may be very annoying to patients, apart from their negative influence on sleep. OBJECTIVE: To report the use of botulinum type-A toxin (BoNT-A) to manage the case of a patient whose sleep was severely disrupted by episodes of dystonic posturing of the right lower limb triggered by periodic limb movements of sleep (PLMS). METHOD: A 79-year-old woman with mild post-stroke right hemiparesis presented with recurrent painful episodes of dystonia of the right lower limb, which disrupted her sleep. The dystonic episodes could also be volu
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Pranzatelli, Michael R. "Movement Disorders in Childhood." Pediatrics In Review 17, no. 11 (1996): 388–94. http://dx.doi.org/10.1542/pir.17.11.388.

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Clinical Aspects Dyskinesias are abnormal involuntary movements. The common dyskinesias include tics, chorea, tremor, dystonia, myoclonus, and hyperactivity (Table 1). Several other less common dyskinesias also are important to recognize. The diagnosis of the type of movement disorder is clinical. When the movements are episodic and not seen by the pediatrician, obtaining a home videotape is recommended. Most patients who have movement disorders, with the exception of tic disorders, should be referred to a neurologist, but it is important for the pediatrician to be able to identify them and to
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9

Umemura, Atsushi, Jurg L. Jaggi, Carol A. Dolinskas, Matthew B. Stern, and Gordon H. Baltuch. "Pallidal deep brain stimulation for longstanding severe generalized dystonia in Hallervorden—Spatz syndrome." Journal of Neurosurgery 100, no. 4 (2004): 706–9. http://dx.doi.org/10.3171/jns.2004.100.4.0706.

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✓ Generalized dystonia is one of the most disabling movement disorders. Ablative stereotactic surgery such as pallidotomy has been performed for medically refractory dystonia. Recently, deep brain stimulation (DBS) has appeared as an alternative to ablative procedures. Nevertheless, there have been few published reports detailing improvement in dystonia with DBS. This 36-year-old man with Hallervorden—Spatz syndrome suffered from intractable primary generalized dystonia for 28 years. He was completely dependent for activities of daily living and wheelchair bound because of continuous severe dy
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Godeiro-Junior, Clecio, Andre Carvalho Felício, Patrícia Maria de Carvalho Aguiar, Vanderci Borges, Sonia Maria Azevedo Silva, and Henrique Ballalai Ferraz. "Retrocollis, anterocollis or head tremor may predict the spreading of dystonic movements in primary cervical dystonia." Arquivos de Neuro-Psiquiatria 67, no. 2b (2009): 402–6. http://dx.doi.org/10.1590/s0004-282x2009000300006.

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BACKGROUND AND PURPOSE: Few studies have attempted to develop clinical predictors for cervical dystonia (CD) aiming at progression of the dystonic movement. METHOD: We retrospectively evaluated 73 patients with primary CD who underwent treatment with Botulinum toxin type-A (BTX-A). The patients were assembled in two groups according to the spread of dystonia during follow-up: spreading and non-spreading CD. We performed a binary logistic regression model using spreading of cervical dystonia as dependent variable aiming to find covariates which increase the risk of spreading. RESULTS: Our logis
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Ferrarin, Maurizio, Marco Rabuffetti, Marina Ramella, Maurizio Osio, Enrico Mailland, and Rosa Maria Converti. "Does Instrumented Movement Analysis Alter, Objectively Confirm, or Not Affect Clinical Decision-making in Musicians with Focal Dystonia?" Medical Problems of Performing Artists 23, no. 3 (2008): 99–106. http://dx.doi.org/10.21091/mppa.2008.3021.

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Focal dystonia (FD) is a movement disorder that frequently affects instrumental musicians. Distinguishing between primary dystonic movement and secondary compensatory abnormal movement is crucial for the correct treatment planning in FD. Such distinction is complex in musicians because of the complexity, speed, and smallness of involved movement. The goal of the current study was to assess the influence of instrumented movement analysis (MA) in treatment decision-making in musician's FD. A group of 18 musicians with FD was instrumentally analyzed in an MA laboratory equipped with optoelectroni
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DeSimone, Jesse C., Derek B. Archer, David E. Vaillancourt, and Aparna Wagle Shukla. "Network-level connectivity is a critical feature distinguishing dystonic tremor and essential tremor." Brain 142, no. 6 (2019): 1644–59. http://dx.doi.org/10.1093/brain/awz085.

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AbstractDystonia is a movement disorder characterized by involuntary muscle co-contractions that give rise to disabling movements and postures. A recent expert consensus labelled the incidence of tremor as a core feature of dystonia that can affect body regions both symptomatic and asymptomatic to dystonic features. We are only beginning to understand the neural network-level signatures that relate to clinical features of dystonic tremor. At the same time, clinical features of dystonic tremor can resemble that of essential tremor and present a diagnostic confound for clinicians. Here, we exami
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Hossain, Redwana, Md Raknuzzaman, Md Sajib Mia, Mohammed Zubayer Miah, and Muhammad Zillur Rahman Khan. "Clinical Presentation and Short-Term Prognosis of Faciobrachial Dystonia." Journal of Shaheed Suhrawardy Medical College 15, no. 2 (2025): 49–51. https://doi.org/10.3329/jssmc.v15i2.81867.

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Wide range of disorders fall into the intersection between Psychiatry and Neurology. Movement Disorders namely dystonia, chorea, tics, tremors and myoclonus often raise dilemma between coarse brain pathology and functional disorder. Faciobrachial Dystonia due to autoimmune encephalitis presents with dystonic movements of face and arm; memory impairment and psychiatric symptoms which may create uncertainty between the diagnosis of neurologic disorder and psychogenic movement disorder. This is a case of a middle-aged lady who presented in the chamber of a psychiatrist with irrelevant speech, jer
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Rajput, A., and K. Baerg. "Cetirizine-induced dystonic movements." Neurology 66, no. 1 (2006): 143–44. http://dx.doi.org/10.1212/01.wnl.0000191323.58722.38.

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Davis, R. Jeffrey, Jeffrey L. Cummings, and Robert W. Hierholzer. "Tardive Dystonia: Clinical Spectrum and Novel Manifestations." Behavioural Neurology 1, no. 1 (1988): 41–47. http://dx.doi.org/10.1155/1988/362502.

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Tardive dystonia was identified in 25 patients: involvement of the face and neck was most common; truncal and limb dystonia were also observed. There were 3 cases of laryngospasm and 2 of spasmodic dysphonia. The latter has not been previously reported as a manifestation of tardive dystonia. In all cases, movements typical of classic tardive dyskinesia could be demonstrated. This group illustrates the variety of dystonic disorders that may occur in conjunction with tardive dyskinesia.
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Taira, Takaomi, Tomonori Kobayashi, and Tomokatsu Hori. "Disappearance of self-mutilation in a patient with Lesch—Nyhan syndrome after bilateral chronic stimulation of the globus pallidus internus." Journal of Neurosurgery 98, no. 2 (2003): 414–16. http://dx.doi.org/10.3171/jns.2003.98.2.0414.

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✓ Lesch—Nyhan syndrome (LNS) is an X-linked hereditary disorder caused by a deficiency of hypoxanthine-guanine phosphoribosyltransferase. Patients with this syndrome are characterized by hyperuricemia, self-mutilation, developmental retardation, and movement disorders such as spasticity and dystonia. The authors performed bilateral chronic stimulation of the globus pallidus internus for control of dystonic movements in a 19-year-old man with LNS. His self-mutilating behavior unexpectedly disappeared after chronic stimulation. This is the first case of LNS that has been successfully treated wit
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Lê, Văn Thủy, Thu Hà Vương та Thị Hảo Vũ. "Ứng dụng tiêm Botulinum Neurotoxin dưới hướng dẫn của siêu âm và điện cơ trong điều trị loạn trương lực cơ cổ: Ca lâm sàng". Tạp chí thần kinh học Việt Nam, № 41 (15 липня 2024): 75–78. http://dx.doi.org/10.62511/vjn.41.2024.021.

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Dystonia is a movement disorder characterized by persistent or intermittent muscle contractions, involuntary, creating repetitive and/or abnormal postures and movements. Dystonic movements result in characteristic twisting or tremor patterns. Dystonia often begins or worsens with intentional movements, combined with excessive muscle activation. Dystonia is classified according to the affected body regions: focal dystonia, segmental dystonia, multifocal dystonia, hemidystonia, and generalized dystonia. Anterocollis is a type of cervical dystonia, caused by persistent, repetitive contractions of
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Khakimova, A. R., K. B. Timorshina, E. Z. Yakupov, and N. A. Popova. "Idiopathic generalized dystonia." Kazan medical journal 98, no. 6 (2017): 1044–47. http://dx.doi.org/10.17750/kmj2017-1044.

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Idiopathic generalized dystonia is a group of neurodegenerative diseases primarily charecterized by dystonic hyperkinetic disorder (irregular slow involuntary movements of different body parts accompanied by specific muscle tone changes and pathological poses). A 54-year-old female was admitted with various complaints. The leading syndrome was extrapyramidal due to which the differential diagnosis included Parkinson’s disease, multiple system atrophy, corticobasal degeneration, etc. The diagnosis of idiopathic generalized dystonia, in the form of lower extremity hyperkinesia with dystonic equi
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Racette, Brad A., Carl Lauryssen, and Joel S. Perlmutter. "Preoperative treatment with botulinum toxin to facilitate cervical fusion in dystonic cerebral palsy." Journal of Neurosurgery 88, no. 2 (1998): 328–30. http://dx.doi.org/10.3171/jns.1998.88.2.0328.

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✓ The authors report the use of high-dose botulinum toxin A for muscle relaxation prior to surgery for cervical spine fixation in two patients with dystonic cerebral palsy that included severe cervical dystonia. Both patients had recently developed progressive cervical myelopathy and surgery was planned to halt the insidious progressive weakness. However, marked dystonic posturing of the neck would have compromised their tolerance of halo fixation and subsequently impeded postoperative fusion. Preoperative chemodenervation of selected cervical muscles with injections of high-dose botulinum tox
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Svetel, M. "Characteristics of dystonic movements in primary and symptomatic dystonias." Journal of Neurology, Neurosurgery & Psychiatry 75, no. 2 (2004): 329–30. http://dx.doi.org/10.1136/jnnp.2003.017632.

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Batra, Nitish, Sourya Acharya, Samarth Shukla, Preeti Mishra, and Gautam Bedi. "A Rare Case of Neuroacanthocytosis with Predominant Dystonia." International Journal of Nutrition, Pharmacology, Neurological Diseases 14, no. 3 (2024): 386–89. http://dx.doi.org/10.4103/ijnpnd.ijnpnd_52_24.

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Dystonia is a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both. Acanthocytosis is irregular spiky red cells on peripheral blood smears, usually associated with neurological and hematological abnormalities. The different types of neuroacanthocytosis (NA) syndromes include core syndromes like chorea-acanthocytosis, McLeod syndrome, Huntington’s disease-like 2, and Pantothenate kinase-associated neurodegeneration, as well as NA associated with lipoprotein disorders such as abetalipoproteinemia (Bassen
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Wei, Miao, Firas Bannout, Mohammad Dastjerdi, et al. "Immunotherapy in a case of low titre GAD65 antibody-associated spectrum neurological disorders." BMJ Case Reports 17, no. 6 (2024): e260503. http://dx.doi.org/10.1136/bcr-2024-260503.

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We present a rare case of low titre GAD65 antibody-associated autoimmune encephalitis and status epilepticus in a young woman. She initially presented with left arm dystonic movements, contractures and status epilepticus. Due to the concern of autoimmune encephalitis and seizures, the patient received intravenous immunoglobulin empirically. After the detection of low serum GAD65 antibodies, the patient underwent immunomodulation therapy with significant improvement. This case demonstrated that in autoimmune encephalitis, it is important to monitor serum GAD65 antibodies levels and consider imm
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Spiegel, Jörg, Gerhard Fuss, Martin Backens, et al. "Transient dystonia following magnetic resonance imaging in a patient with deep brain stimulation electrodes for the treatment of Parkinson disease." Journal of Neurosurgery 99, no. 4 (2003): 772–74. http://dx.doi.org/10.3171/jns.2003.99.4.0772.

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✓ Data from previous studies have shown that magnetic resonance (MR) imaging of the head can be performed safely in patients with deep brain stimulators. The authors report on a 73-year-old patient with bilaterally implanted deep brain electrodes for the treatment of Parkinson disease, who exhibited dystonic and partially ballistic movements of the left leg immediately after an MR imaging session. Such dystonic or ballistic movements had not been previously observed in this patient. In the following months, this focal movement disorder resolved completely. This case demonstrates the possible r
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Lyalina, A. A., L. A. Pak, A. P. Fisenko, O. B. Kondakova, and I. E. Smirnov. "Dystonia in children." Russian Pediatric Journal 24, no. 2 (2021): 112–21. http://dx.doi.org/10.46563/1560-9561-2021-24-2-112-121.

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Dystonia is a motor disorder characterized by sustained muscle contractions producing twisting, repetitive, and patterned movements or abnormal postures. Dystonia is among the most commonly observed motor disorders in clinical practice in children. Unlike dystonia in adults that typically remains focal or spreads only to nearby muscle groups, childhood dystonia often generalizes. Classification of dystonia has direct implications for narrowing down the differential diagnosis, choosing the diagnostic work-up, predicting the prognosis, and choosing treatment options. The etiology of pediatric dy
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Lang, Anthony E. "Psychogenic Dystonia: a Review of 18 Cases." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 22, no. 2 (1995): 136–43. http://dx.doi.org/10.1017/s031716710004021x.

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AbstractObjective:To review the clinical characteristics and associated features found in patients with psychogenic dystonia.Methods:A 10 year retrospective chart review of all patients diagnosed by the author as having psychogenic dystonia.Results:Eighteen patients fulfilled diagnostic criteria for “Documented” or “Clinically Established” psychogenic dystonia. Clinical characteristics of the dystonia were inconsistent or incongruous with established forms of organic dystonia. Fourteen of the 18 patients had a known precipitant. In most, the onset was abrupt and progression occurred rapidly, o
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Gogola, Anna, Rafał Gnat, Sławomir Snela, et al. "Effects of Interdisciplinary Therapy in A Patient with Severe Dystonic Cerebral Palsy: a 12-Year Follow-up Case Report." International Journal of Special Education (IJSE) 40, no. 1 (2025): 159–70. https://doi.org/10.52291/ijse.2025.40.13.

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Dystonic cerebral palsy (CP) presents significant challenges due to its complex movement disorders and associated complications. This case report details a unique 12-year longitudinal observation (from birth to 12 years of age) of a patient with severe dystonic CP, highlighting the benefits of an interdisciplinary, structured therapeutic approach. The patient exhibited severe dystonia, motor impairment, and a high risk of musculoskeletal and systemic complications. Diagnosis and treatment were guided by the WHO's International Classification of Functioning, Disability, and Health (ICF) framewo
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Makuloluwa, P. T. R., T. S. Hakmanaarachchi, D. Perera, and A. Dissanayake. "Acute Dystonia-Induced Airway Compromise During Emergence from Anaesthesia: Implications of Propofol and Ondansetron Administration to  Patients with Previous Neuroexcitatory Phenomena." Sri Lankan Journal of Anaesthesiology 33, no. 01 (2025): 128–32. https://doi.org/10.4038/slja.v33i01.9458.

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Acute dystonic reactions have been reported during emergence from anaesthesia following the use of propofol or/and ondansetron. We present a 37-year-old lady who developed recurrent and severe involuntary movements and abnormal postures in the upper body during emergence from anaesthesia following propofol and ondansetron, given as part of a general anaesthetic for a gynaecological procedure. Reactions were recurrent and severe with associated spells of severe desaturation. Abnormal movements were reported previously following metoclopramide (IV). Acute dystonic reactions with associated laryn
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Loher, Thomas J., Mustafa G. Hasdemir, Jean-Marc Burgunder, and Joachim K. Krauss. "Long-term follow-up study of chronic globus pallidus internus stimulation for posttraumatic hemidystonia." Journal of Neurosurgery 92, no. 3 (2000): 457–60. http://dx.doi.org/10.3171/jns.2000.92.3.0457.

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✓ The authors report the first case of chronic globus pallidus internus (GPi) stimulation for treatment of medically intractable hemidystonia for which long-term follow-up data are available. The patient had developed left-sided low-frequency tremor and hemidystonia after a severe head trauma sustained at 15 years of age. He experienced relief of the tremor but not of the hemidystonia after a thalamotomy was performed in the right hemisphere 3 years postinjury. When the patient was 24 years old, the authors performed a magnetic resonance-guided stereotactic implantation of a monopolar electrod
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Bessemer, Robin Anne, and Mandar Jog. "Botulinum Toxin Injections to the Obliquus Capitis Inferioris Muscle for Dynamic Cervical Dystonia Improves Subjective Patient Outcomes." Toxins 16, no. 2 (2024): 76. http://dx.doi.org/10.3390/toxins16020076.

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The obliquus capitis inferioris (OCI) muscle is a significant driver of cervical dystonia with torticaput movements and a no–no head tremor. Limited data are available on the efficacy of OCI injections on patient outcomes. Our study aims to determine whether the botulinum toxin injection into OCI improves subjective patient quality of life in those with dystonic head tremors. A retrospective chart review was performed for 25 patients receiving injections into the OCI for a dystonic head tremor at the London Movement Disorders Clinic between January 2020 and January 2022. Toronto Western Spasmo
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Buraschi, Riccardo, Paolo Pedersini, Giacomo Redegalli, et al. "Efficacy of Segmental Muscle Vibration on Pain Modulation in Patients with Primary Cervical Dystonia Treated with Botulinum Type-A Toxin: A Protocol for a Randomized Controlled Trial." NeuroSci 6, no. 2 (2025): 30. https://doi.org/10.3390/neurosci6020030.

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Primary cervical dystonia (PCD), or spasmodic torticollis, is a focal dystonia characterized by involuntary and often painful muscle contractions, leading to abnormal cervical movements and postures. While botulinum toxin injections are the first-line treatment, additional therapies, such as segmental muscle vibration (SMV), remain underexplored. SMV, a non-invasive neuromodulation technique, may enhance motor cortex excitability and promote neuroplasticity, offering potential benefits in PCD management. This single-center triple-blinded randomized controlled trial evaluates SMV’s efficacy in
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Momosaki, Ken, Jun Kido, Shiro Matsumoto, et al. "The Effect of S-Adenosylmethionine Treatment on Neurobehavioral Phenotypes in Lesch-Nyhan Disease: A Case Report." Case Reports in Neurology 11, no. 3 (2019): 256–64. http://dx.doi.org/10.1159/000502568.

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Lesch-Nyhan disease (LND) is an X-linked recessive disorder caused by a deficiency in hypoxanthine-guanine phosphoribosyl transferase. Patients with LND experience involuntary movements, including dystonia, choreoathetosis, opisthotonos, ballismus, and self-injury. Alleviating these involuntary movements is important to improve the quality of life in patients with LND. Many clinicians have difficulty controlling these involuntary movements in their patients, and there are no established and effective treatments. A 6-month-old boy with LND presented with generalized dystonia and self-injury beh
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Van der Walt, A., K. Buzzard, S. Sung, et al. "The occurrence of dystonia in upper-limb multiple sclerosis tremor." Multiple Sclerosis Journal 21, no. 14 (2015): 1847–55. http://dx.doi.org/10.1177/1352458515577690.

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Background: The pathophysiology of multiple sclerosis (MS) tremor is uncertain with limited phenotypical studies available. Objective: To investigate whether dystonia contributes to MS tremor and its severity. Methods: MS patients ( n = 54) with and without disabling uni- or bilateral upper limb tremor were recruited (39 limbs per group). We rated tremor severity, writing and Archimedes spiral drawing; cerebellar dysfunction (SARA score); the Global Dystonia Scale (GDS) for proximal and distal upper limbs, dystonic posturing, mirror movements, geste antagoniste, and writer’s cramp. Results: Ge
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Ferraz, Henrique B., and Luiz Augusto F. Andrade. "Symptomatic Dystonia: Clinical Profile of 46 Brazilian Patients." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 19, no. 4 (1992): 504–7. http://dx.doi.org/10.1017/s0317167100041718.

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ABSTRACT:Dystonia is a syndrome characterized by sustained muscle contraction, provoking twisting and repeti-tive movements or abnormal postures. It may be classified according to etiology, as idiopathic or symptomatic. We studied 122 Brazilian patients with a dystonic syndrome. Of these, 46 (37.7%) had symptomatic dystonia. The most frequent cause was tardive dystonia (34.8%) followed by perinatal cerebral injury (30.4%). Other causes were stroke (13.0%), encephalitis (6.5%) and Wilson’s disease (4.3%). Cranial trauma, mitochondrial cytopathy and psychogenic, were the least frequent causes wi
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Putri, Puspita Sari Sugiyarto, Diah Kurnia Mirawati, and Ervina Arta Jayanti Hutabarat. "A 21-Years-Old Man with Mesial Temporal Lobe Epilepsy and Dystonia: A Rare Case Report." Magna Neurologica 2, no. 2 (2024): 48–53. http://dx.doi.org/10.20961/magnaneurologica.v2i2.934.

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Background: Mesial temporal lobe epilepsy (MTLE) with dystonia is a rare case. Seizures and movement disorders have almost the same phenomenology, so it is often difficult to distinguish them. In this study, we report a unique case of MTLE and co-occurring dystonia. Case: A 21 years old male with complaints of seizures since 4 years ago. Seizures of one body jerking and drooling with a duration of less than 5 minutes. Prior to the seizure the patient was nauseous then vomited and followed by an empty mind, after the seizure the patient was confused. The patient also complained of unconscious m
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Newstead, Shaundra M., and Josef Finsterer. "Hyperkinesias in Leigh-like Syndrome with Complex-I Deficiency Due to m.10191T>C in MT-ND3." Annals of African Medicine 23, no. 3 (2024): 512–13. http://dx.doi.org/10.4103/aam.aam_32_23.

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Hyperkinesias in a patient with complex-I deficiency due to the variant m.10191T>C in MT-ND3 have not been previously reported. The patient is a 32 years-old female with multisystem mitochondrial disease due to variant m.10191T>C in MT-ND3, who has been experiencing episodic, spontaneous or induced abnormal movements since age 23. The abnormal movements started as right hemi-athetosis, bilateral dystonia of the legs, or unilateral dystonia of the right arm and leg. They often progressed to severe ballism, involving the trunk, and limbs. The arms were more dystonic than the legs. In concl
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Yapici, Zuhal, Pinar Topaloğlu, Cuneyt Turkmen, Mefkure Eraksoy, and Sameer Zuberi. "A Patient with Glucose Transporter Type 1 Deficiency Syndrome." Neurological Sciences and Neurophysiology 39, no. 1 (2022): 53–55. http://dx.doi.org/10.4103/nsn.nsn_127_21.

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Glucose transporter type 1 deficiency syndrome (GLUT-1 DS) is an inborn error of metabolism that results in defective glucose transport and consequently a reduced supply of glucose to the brain. Here, we describe a patient with a molecularly proven GLUT-1 mutation who presented with severe paroxysmal choreoathetosis. Different regional changes involving bilateral mesial temporal lobes were revealed using positron-emission tomography (PET). Several cases of GLUT-1 DS have been studied from the point of view of hyperkinetic movement disorders rather than epilepsy and ataxia. It is usual for thes
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Warner, Thomas T., Alassandra Granata, and Giampietro Schiavo. "TorsinA and DYT1 dystonia: a synaptopathy?" Biochemical Society Transactions 38, no. 2 (2010): 452–56. http://dx.doi.org/10.1042/bst0380452.

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DYT1 dystonia is an autosomal dominant movement disorder, characterized by early onset of involuntary sustained muscle contractions. It is caused by a 3-bp deletion in the DYT1 gene, which results in the deletion of a single glutamate residue in the C-terminus of the protein TA (torsinA). TA is a member of the AAA+ (ATPase associated with various cellular activities) family of chaperones with multiple functions in the cell. There is no evidence of neurodegeneration in DYT1 dystonia, which suggests that mutant TA leads to functional neuronal abnormalities, leading to dystonic movements. In rece
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Berardelli, A., R. Agostino, A. Currà, and M. Manfredi. "Bradykinesia in Parkinson's disease and cocontraction activity in dystonia are unlikely to be due to adaptive changes in the CNS." Behavioral and Brain Sciences 19, no. 1 (1996): 69. http://dx.doi.org/10.1017/s0140525x00041480.

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AbstractLatash & Anson's explanation of bradykinesia in patients with Parkinson's disease and cocontraction in dystonic patients is intriguing. However, the proposed adaptive changes in the central nervous system do not fit well with both clinical and experimental evidence of motor impairment in these patients. In particular, we question the explanation of: (1) the role of postural reactions and spatial accuracy in bradykinesia, (2) certain abnormalities during the execution of sequential and simultaneous movements, (3) the sudden changes in mobility (ON and OFF) of Parkinsonian patients,
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Mohanty, Sujata, and Ujjwal Gulati. "Mandibular angle and coronoid process fracture secondary to orofacial dystonia: report of a case." International Journal of Orofacial Myology 39, no. 1 (2013): 24–30. http://dx.doi.org/10.52010/ijom.2013.39.1.3.

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As the angle is a weak region in the continuity of mandible, so it is more prone to fracture. It has been proven time and again that coronoid fracture results from a strong sudden contraction of temporalis. Muscular forces influence the remodeling of bones. Orofacial dystonia is a centrally mediated disease in which there is an uncontrolled spasmodic contraction of facial and masticatory muscles. This continuous force applied over a long period of time has the potential to unfavorably remodel or weaken bone. A case is presented in which the dystonic action of facial musculature gradually resor
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SAGESHIMA, H., D. PAVLŮ, D. DVOŘÁČKOVÁ, and M. MUSÁLEK. "Asymmetric muscle activation pattern found in patients with cervical dystonia during cervical flex-ion movement – a pilot study." časopis REHABILITÁCIA 62, no. 2 (2025): 111–24. https://doi.org/10.61983/lcrh.v62i2.103.

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Starting point: Cervical dystonia is a common form of focal dystonia, resulting in neck pain and the development of asymmetric neck and head postures. These abnormal postures contribute to muscular impairment, muscle imbalances, and, as a result, alteration in movement patterns. This study aimed to compare the asymmetry of cervical muscle activation pattern during cervical flexion movements between individuals with cervical dystonia and healthy young subjects.Methods: Eight individuals with cervical dystonia and eight healthy participants participated in this study. We recorded muscle activati
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Andrade, Luiz A. F., and Henrique B. Ferraz. "Idiopathic dystonia clinical, profile of 76 brazilian patients." Arquivos de Neuro-Psiquiatria 50, no. 4 (1992): 426–32. http://dx.doi.org/10.1590/s0004-282x1992000400003.

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Dystonia may be classified by age of onset (childhood, adolescence, adult onset), body distribution of the abnormal movements (focal, segmental, unilateral, multifocal and generalized) and etiology (idiopathic and symptomatic). We studied 76 patients with idiopathic dystonia among 122; cases of dystonic syndrome (62.3% of the total). There were 48 female and 28 male patients. Adult-onset focal dystonia was the most frequent feature (37 patients). The onset of generalized dystonia was more frequently seen under the age of 20, whereas focal and segmental dystonia usually started over this age. P
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Abdo, William F., Bastiaan R. Bloem, Jeroen J. Eijk, Alexander C. Geurts, Nens van Alfen, and Bart P. C. van de Warrenburg. "Atypical dystonic shoulder movements following neuralgic amyotrophy." Movement Disorders 24, no. 2 (2009): 293–96. http://dx.doi.org/10.1002/mds.22398.

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Lenz, F. A., C. J. Jaeger, M. S. Seike, et al. "Thalamic Single Neuron Activity in Patients With Dystonia: Dystonia-Related Activity and Somatic Sensory Reorganization." Journal of Neurophysiology 82, no. 5 (1999): 2372–92. http://dx.doi.org/10.1152/jn.1999.82.5.2372.

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Indirect evidence suggests that the thalamus contributes to abnormal movements occurring in patients with dystonia (dystonia patients). The present study tested the hypothesis that thalamic activity contributes to the dystonic movements that occur in such patients. During these movements, spectral analysis of electromyographic (EMG) signals in flexor and extensor muscles of the wrist and elbow exhibited peak EMG power in the lowest frequency band [0–0.78 Hz (mean: 0.39 Hz) dystonia frequency] for 60–85% of epochs studied during a pointing task. Normal controls showed low-frequency peaks for &l
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Goulenko, Victor, Paulo Luiz da Costa Cruz, and Paulo Niemeyer Filho. "Unilateral thalamic and pallidal deep brain stimulation for idiopathic hemidystonia: results of individual and combined stimulations. Case report." Neurosurgical Focus 43, no. 1 (2017): E2. http://dx.doi.org/10.3171/2017.4.focus17134.

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Pallidal stimulation has been the usual surgical treatment for dystonia in the last decades. The continuous investigation of the physiopathology and the motor pathways involved leads to the search for complementary targets to improve results. The authors present the case of a 37-year-old woman who had suffered from idiopathic hemidystonia with hyperkinetic and hypokinetic movements for 11 years, and who was treated with deep brain stimulation. A brief literature review is also provided. The globus pallidus internus and the ventral intermediate/ventral oral posterior complex of the thalamus wer
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Sakas, Damianos E., Lampis C. Stavrinou, Efstathios J. Boviatsis, Pantelis Stathis, Marios Themistocleous, and Stylianos Gatzonis. "Restoration of erect posture by deep brain stimulation of the globus pallidus in disabling dystonic spinal hyperextension." Journal of Neurosurgery 112, no. 6 (2010): 1279–82. http://dx.doi.org/10.3171/10.3171/2009.10.jns09588.

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Dystonia is a movement disorder notoriously difficult to treat. While primary dystonia is classically considered to respond well to deep brain stimulation (DBS), treatment of secondary dystonia yields variable results. Patient selection should be done on a case-by-case basis. Clearly, there is a need to accumulate additional information with regard to prognostic factors that may aid neurosurgeons in selecting those patients in whom the disorder is most likely to respond favorably to pallidal DBS. The authors report the case of a 29-year-old man with secondary dystonia due to perinatal hypoxia.
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SARAVANAKUMAR, K., P. VENKATESH, and P. BROMLEY. "Delayed onset refractory dystonic movements following propofol anesthesia." Pediatric Anesthesia 15, no. 7 (2005): 597–601. http://dx.doi.org/10.1111/j.1460-9592.2005.01493.x.

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Olguner, MUSTAFA, FEZA M. Akgur, and GULCE Hakguder. "Gastroesophageal reflux associated with dystonic movements: Sandifer's syndrome." Pediatrics International 41, no. 3 (1999): 321–22. http://dx.doi.org/10.1046/j.1442-200x.1999.t01-1-01051.x.

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Ferreira, Axel, Vanessa Carvalho, and Paulo Simões Coelho. "Dystonic posturing with athetoid movements in stroke without thalamic lesion." BMJ Case Reports 16, no. 1 (2023): e248977. http://dx.doi.org/10.1136/bcr-2022-248977.

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Complex hyperkinetic movement disorders are a rare complication of stroke, frequently involving posterolateral contralateral thalamic lesions. One of the proposed mechanisms for these presentations is proprioceptive impairment, hence not involving deregulation of the basal ganglia-thalamocortical circuits. We report a patient who presented with dystonic posturing and athetoid movements with onset 2 years after right frontoparietotemporal stroke. Brain MRI showed no thalamic lesion. Based on the phenomenology, a diagnosis of pseudochoreoathetosis was proposed. To our knowledge, this is the firs
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Worschech, Florian, Michael Großbach, Bettina Bläsing, and Eckart Altenmüller. "Elevated Forearm Coactivation Levels and Higher Temporal Variability in String Players with Musicians’ Dystonia During Demanding Playing Conditions." Medical Problems of Performing Artists 35, no. 1 (2020): 19–27. http://dx.doi.org/10.21091/mppa.2020.1003.

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AIMS: There is a lack of an objective measurement tool for evaluating the quality of bowing performance in string players. The present study aimed to assess kinematic features of bow strokes performed by violinists and violists affected by bow arm dystonia, compared to healthy controls. METHODS: Seven musicians with musician’s dystonia and 20 healthy controls participated in the study. A 3D motion capture system was used to record repetitive bowing on a single string at fixed velocities. Temporal variability, an indirect indicator for motor disturbances, was computed in order to evaluate the m
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Shukla, Anand deep, G. Srikanth, A. Chitra, Anupam Singh, and Sunil Nayak. "“Orofacial Dystonia—A Silent Killer”: Mandibular Fractures with Orofacial Dystonia, A Report of a Case and Review." Case Reports in Dentistry 2021 (January 25, 2021): 1–6. http://dx.doi.org/10.1155/2021/6675961.

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Mandibular parasymphysis fracture is very commonly observed especially in old age when there is resorptions of the alveolar ridges. In cervical dystonia, there is centrally mediated disease in which there is uncontrolled and spasmodic contraction of the facial and the masticatory muscles. Due to the application of this sudden and uncontrolled force, there is a tendency of the bone to unfavourably remodel and weaken. The case presented here is of a geriatric patient who presented to us with a fracture at the right parasymphysis and left dentoalveolar region of the mandible and was suffering fro
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