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https://www.readbyqxmd.com/read/28690922/axial-sensory-tricks-in-chorea-acanthocytosis-insights-into-phenomenology
#1
Roongroj Bhidayasiri, Onanong Jitkritsadakul, Ruth H Walker
BACKGROUND: Trunk flexion and axial extension are characteristic symptoms of chorea-acanthocytosis (ChAc). PHENOMENOLOGY SHOWN: A 41-year-old male with ChAc (confirmed by VPS13A mutations) reported that his involuntary axial movements were significantly ameliorated by either folding his arms over his chest or putting his hands behind his head. EDUCATIONAL VALUE: These apparent "sensory tricks" suggest a dystonic pathophysiology, and also merit further study to analyze their potential for symptom control in ChAc...
2017: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/28689341/painful-spasms-in-facial-masticatory-and-motor-ocular-muscles-reversed-after-microvascular-decompression-of-a-neurovascular-conflict-at-brainstem
#2
Tania-Mihaela Idriceanu, Marc Sindou
The authors present a case of a 42-year-old female admitted for disabling complex and atypical bilateral facial spasms associated with painful masticatory and motor ocular dystonic movements, difficult to fit in the definition of any known cranio-facial dyskinesias. MRI showed a left PICA loop invaginated into the brainstem, considered responsible of an hyperactive disorder of the brainstem nuclei neighboring the conflict. After microvascular decompression, the patient made a full recovery with complete disappearance of the paroxystic phenomena...
July 8, 2017: Acta Neurochirurgica
https://www.readbyqxmd.com/read/28689295/inhibitory-rtms-applied-on-somatosensory-cortex-in-wilson-s-disease-patients-with-hand-dystonia
#3
Pierre Lozeron, Aurélia Poujois, Elodie Meppiel, Sana Masmoudi, Thierry Peron Magnan, Eric Vicaut, Emmanuel Houdart, Jean-Pierre Guichard, Jean-Marc Trocello, France Woimant, Nathalie Kubis
Hand dystonia is a common complication of Wilson's disease (WD), responsible for handwriting difficulties and disability. Alteration of sensorimotor integration and overactivity of the somatosensory cortex have been demonstrated in dystonia. This study investigated the immediate after effect of an inhibitory repetitive transcranial magnetic stimulation (rTMS) applied over the somatosensory cortex on the writing function in WD patients with hand dystonia. We performed a pilot prospective randomized double-blind sham-controlled crossover rTMS study...
July 8, 2017: Journal of Neural Transmission
https://www.readbyqxmd.com/read/28670128/clinical-features-of-limbic-encephalitis-with-lgi1-antibody
#4
Meiling Wang, Xiaoyu Cao, Qingxin Liu, Wenbin Ma, Xiaoqian Guo, Xuewu Liu
OBJECTIVE: The objective of this study was to analyze the clinical manifestation, course, evolution, image manifestation, and treatments of LGI1 limbic encephalitis (LE). PATIENTS AND METHODS: Studies confirmed that LE with the complex antibody of voltage-gated potassium channels is LGI1 LE. Since then, LE cases have been reported. In this study, 10 typical LE cases were searched in PubMed. These cases and one additional case, which we reported herein, were retrospectively analyzed...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/28669294/unilateral-thalamic-and-pallidal-deep-brain-stimulation-for-idiopathic-hemidystonia-results-of-individual-and-combined-stimulations-case-report
#5
Victor Goulenko, Paulo Luiz da Costa Cruz, Paulo Niemeyer Filho
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 were stimulated separately and simultaneously for 3 months and compared using the Burke-Fahn-Marsden Dystonia Rating Scale and the Global Dystonia Severity Rating Scale, with a 3...
July 2017: Neurosurgical Focus
https://www.readbyqxmd.com/read/28661018/clinical-characterization-of-dystonia-in-adult-patients-with-huntington-s-disease
#6
N A van de Zande, T H Massey, D McLauchlan, A Pryce Roberts, R Zutt, M Wardle, G C Payne, C Clenaghan, M A J Tijssen, A E Rosser, K J Peall
BACKGROUND AND PURPOSE: Huntington's disease (HD) is an autosomal dominant, neurodegenerative movement disorder, typically characterized by chorea. Dystonia is also recognized as part of the HD motor phenotype, although little work detailing its prevalence, distribution, severity and impact on functional capacity has been published to date. METHODS: Patients (>18 years of age) were recruited from the Cardiff (UK) HD clinic, each undergoing a standardized videotaped clinical examination and series of functional assessment questionnaires (Unified Huntington's Disease Rating Scale, Burke-Fahn-Marsden Dystonia Rating Scale and modified version of the Toronto Western Spasmodic Torticollis Rating Scale)...
June 29, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28652522/botulinum-toxin-for-treatment-of-the-focal-dystonia
#7
Yusaku Nakamura
Dystonia is defined as a movement disorder characterized by sustained or intermittent muscles contraction causing abnormal, often repetitive, movements, postures, or both. Dystonic movements are typically patterned and twisting, and may be tremulous. The precis diagnosis of dystonia is difficult for physicians because neurological brain imaging does not provide enough practical information. The diagnosis is depend on clinical experience of physicians. Botulinum toxin treatment is the accepted standard of care for patients with focal dystonia...
June 24, 2017: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/28652224/focal-epilepsy-with-paroxysmal-pain-due-to-somatic-injury
#8
Tao Yu, Chang Liu, Guojun Zhang, Liang Qiao, Duanyu Ni, Yuping Wang, Yongjie Li
We present two cases with paroxysmal pain that developed after a somatic injury to the trunk. The main characteristic of the episodes was paroxysmal severe pain, mainly located in the original region of somatic injury, with ipsilateral tonic or dystonic behaviour. The clinical characteristics supported a diagnosis of focal epilepsy. Both scalp EEG and MEG findings suggested epileptic activities on the contralateral central cortex. The focal seizures had a good response to antiepileptic drugs. It is hypothesized that peripheral somatic injuries can modify cortical excitability and lead to plastic changes in the sensory/motor cortex, ultimately resulting in focal seizures...
June 1, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28648114/pseudohypoparathyroidism-type-1b-a-rare-cause-of-tetany-case-report
#9
Catarina Garcia, Cátia R Correia, Lurdes Lopes
Pseudohypoparathyroidism (PHP) is a rare group of disorders characterised by end-organ resistance to the parathyroid hormone (PTH). A 16-year-old boy presented with a 2-year history of involuntary dystonic movements involving mainly the left hand, initially after writing and later during physical exercise. Serum calcium was 1.37 mmol/L (2.20-2.69), phosphate 2.1 mmol/L (0.8-1.45) and PTH 302 ng/L (12-88). CT scan of the head demonstrated multiple subcortical and diffuse basal ganglia calcifications. Genetic analysis confirmed a methylation defect in the GNAS cluster on chromosome 20q13...
June 26, 2017: Paediatrics and International Child Health
https://www.readbyqxmd.com/read/28644254/sporadic-creutzfeldt-jakob-disease-with-unilateral-symptoms-in-the-setting-of-metastatic-renal-cell-carcinoma
#10
Kyle C Rossi, Christine M Stahl, Pengfei Zhang, John W Liang, Lara V Marcuse, Fred Lublin
INTRODUCTION: Although it is not rare for magnetic resonance imaging findings in Creutzfeldt-Jakob disease to be asymmetric, unilateral clinical syndromes are uncommonly reported and may confound diagnosis. In addition, neurological paraneoplastic syndromes are not common in renal cell carcinoma, though there are cases reported, often without an offending antibody isolated. CASE REPORT: A 66-year-old man was admitted with 1 month of left-sided numbness and "loss of control" of the left arm...
July 2017: Neurologist
https://www.readbyqxmd.com/read/28644201/insular-epilepsy-semiology-and-noninvasive-investigations
#11
Sami Obaid, Younes Zerouali, Dang Khoa Nguyen
In this review, authors discuss the semiology and noninvasive investigations of insular epilepsy, an underrecognized type of epilepsy, which may mimic other focal epilepsies. In line with the various functions of the insula and its widespread network of connections, insular epilepsy may feature a variety of early ictal manifestations from somatosensory, visceral, olfactory, gustatory, or vestibular manifestations. Depending on propagation pathways, insular seizures may also include altered consciousness, dystonic posturing, complex motor behaviors, and even autonomic features...
July 2017: Journal of Clinical Neurophysiology: Official Publication of the American Electroencephalographic Society
https://www.readbyqxmd.com/read/28643183/dopaminergic-therapies-for-non-motor-symptoms-in-parkinson-s-disease
#12
REVIEW
Eva Schaeffer, Daniela Berg
Apart from the typical motor symptoms, Parkinson's disease is characterized by a wide range of different non-motor symptoms, which are highly prevalent in all stages of the disease and have an incisive influence on quality of life. Moreover, their treatment continues to be challenging. In this review, we critically summarize the evidence for the impact of dopaminergic therapies on non-motor symptoms in Parkinson's disease. We performed a PubMed search to identify relevant clinical studies that investigated the response of non-motor symptoms to dopaminergic therapy...
July 2017: CNS Drugs
https://www.readbyqxmd.com/read/28638597/rest-tremor-revisited-parkinson-s-disease-and-other-disorders
#13
REVIEW
Wei Chen, Franziska Hopfner, Jos Steffen Becktepe, Günther Deuschl
Tremor is the most common movement disorder characterized by a rhythmical, involuntary oscillatory movement of a body part. Since distinct diseases can cause similar tremor manifestations and vice-versa, it is challenging to make an accurate diagnosis. This applies particularly for tremor at rest. This entity was only rarely studied in the past, although a multitude of clinical studies on prevalence and clinical features of tremor in Parkinson's disease (PD), essential tremor and dystonia, have been carried out...
2017: Translational Neurodegeneration
https://www.readbyqxmd.com/read/28637637/alternating-hemiplegia-of-childhood-and-a-pathogenic-variant-of-atp1a3-a-case-report-and-pathophysiological-considerations
#14
Elena Pavlidis, Peter Uldall, Camilla Gøbel Madsen, Marina Nikanorova, Martin Fabricius, Hans Høgenhaven, Francesco Pisani, Rikke S Møller, Elena Gardella, Guido Rubboli
We describe a case of a child suffering from alternating hemiplegia with a heterozygous p. E815K pathogenic variant of ATP1A3. The patient started to present abnormal eye movements in the first days of life, followed by the appearance at 2 months of dystonic episodes, and later on, by recurrent episodes of alternating hemiplegia more often on the right side. A severe epilepsy started at the age of 2 years with episodes of status epilepticus since the onset which frequently recurred, requiring admission to the intensive care unit...
June 1, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28628235/expanded-phenotypes-and-outcomes-among-256-lgi1-caspr2-igg-positive-patients
#15
Avi Gadoth, Sean J Pittock, Divyanshu Dubey, Andrew McKeon, Jeff W Britton, John E Schmeling, Aurelia Smith, Amy L Kotsenas, Robert E Watson, Daniel H Lachance, Eoin P Flanagan, Vanda A Lennon, Christopher J Klein
OBJECTIVE: To describe an expanded phenotypic spectrum and longitudinal outcome in 256 LGI1-IgG or CASPR2-IgG seropositive patients. METHODS: Patients were identified through service neural autoantibody evaluation. Ninety-five had longitudinal follow-up (7-456 months; median 35). RESULTS: Among 3,910 patients tested, 196 were LGI1-IgG-positive; 51 were CASPR2-IgG-positive and 9 were dual-positive. CSF-testing was less sensitive than serum-testing, detecting only 24/38 LGI1-IgG-positive (63%) and 5/6 CASPR2-IgG-positive (83%)...
June 19, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28626979/electro-clinical-criteria-and-surgical-outcome-is-there-a-difference-between-mesial-and-lesional-temporal-lobe-epilepsy
#16
M Wassenaar, F S S Leijten, G-J de Haan, S G Uijl, J W Sander
OBJECTIVES: Mesial temporal lobe epilepsy syndrome (MTLE) with specific electrophysiological and clinical characteristics and hippocampal sclerosis (HS) on MRI is considered the prototype of a syndrome with good surgical prognosis. Ictal onset zones in MTLE have been found to extend outside the hippocampus and neocortical seizures often involve mesial structures. It can, thus, be questioned whether MTLE with HS is different from lesional temporal epilepsies with respect to electro-clinical characteristics and surgical prognosis...
June 18, 2017: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/28604409/posture-dependent-dysphagia-after-botulinum-toxin-type-a-injection-at-sternocleidomastoid-in-a-patient-with-athetoid-cerebral-palsy
#17
Won Kee Chang, Keewon Kim, Han Gil Seo, Ja-Ho Leigh, Moon Suk Bang
Cervical dystonia is a common issue in patients with athetoid cerebral palsy. Botulinum toxin injection to dystonic cervical muscles is a well-recognized treatment option, but it is known to be associated with dysphagia. Previously reported cases of dysphagia after botulinum toxin injection to the sternocleidomastoid muscle were related to the regional spread of toxin to the pharyngeal muscles. We report a unique case of posture-dependent dysphagia due to preactivation of the suprahyoid and infrahyoid muscles to compensate for impaired head stabilization by the weakened sternocleidomastoid muscle while swallowing...
June 9, 2017: American Journal of Physical Medicine & Rehabilitation
https://www.readbyqxmd.com/read/28604158/a-stepwise-approach-decreasing-infection-in-deep-brain-stimulation-for-childhood-dystonic-cerebral-palsy
#18
Stephen J Johans, Kevin N Swong, Ryan C Hofler, Douglas E Anderson
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 to decrease the rate of infection...
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28596119/alterations-of-m1-and-m4-acetylcholine-receptors-in-the-genetically-dystonic-dt-sz-hamster-and-moderate-antidystonic-efficacy-of-m1-and-m4-anticholinergics
#19
Melanie Hamann, Jagoda Plank, Franziska Richter, Christoph Bode, Sinisa Smiljanic, Meaghan Creed, José N Nobrega, Angelika Richter
Striatal cholinergic dysfunction has been suggested to play a critical role in the pathophysiology of dystonia. In the dt(sz) hamster, a phenotypic model of paroxysmal dystonia, M1 antagonists exerted moderate antidystonic efficacy after acute systemic administration. In the present study, we examined the effects of the M4 preferring antagonist tropicamid and whether long-term systemic or acute intrastriatal injections of the M1 preferring antagonist trihexyphenidyl are more effective in mutant hamsters. Furthermore, M1 and M4 receptors were analyzed by autoradiography and immunohistochemistry...
June 9, 2017: Neuroscience
https://www.readbyqxmd.com/read/28594097/functional-activity-of-the-sensorimotor-cortex-and-cerebellum-relates-to-cervical-dystonia-symptoms
#20
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...
June 8, 2017: Human Brain Mapping
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