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https://www.readbyqxmd.com/read/29433091/the-influence-of-lower-limb-impairments-on-racerunning-performance-in-athletes-with-hypertonia-ataxia-or-athetosis
#1
Marietta L van der Linden, Sadaf Jahed, Nicola Tennant, Martine H G Verheul
OBJECTIVES: RaceRunning enables athletes with limited or no walking ability to propel themselves independently using a three-wheeled running bike that has a saddle and a chest plate for support but no pedals. For RaceRunning to be included as a Para athletics event, an evidence-based classification system is required. Therefore, the aim of this study was to assess the association between a range of impairment measures and RaceRunning performance. METHODS: The following impairment measures were recorded: lower limb muscle strength assessed using Manual Muscle Testing (MMT), selective voluntary motor control assessed using the Selective Control Assessment of the Lower Extremity (SCALE), spasticity recorded using both the Australian Spasticity Assessment Score (ASAS) and Modified Ashworth Scale (MAS), passive range of motion (ROM) of the lower extremities and the maximum static step length achieved on a stationary bike (MSSL)...
February 5, 2018: Gait & Posture
https://www.readbyqxmd.com/read/29412426/selective-dorsal-rhizotomy-in-cerebral-palsy-selection-criteria-and-postoperative-physical-therapy-protocols
#2
Renata D'Agostini Nicolini-Panisson, Ana Paula Tedesco, Maira Rech Folle, Márcio Vinicius Fagundes Donadio
OBJECTIVE: To identify selection criteria for selective dorsal rhizotomy (SDR) in cerebral palsy, to analyze the instruments used for evaluation, and to describe the characteristics of physical therapy in postoperative protocols. DATA SOURCES: Integrative review performed in the following databases: SciELO, PEDro, Cochrane Library, and PubMed. The terms in both Portuguese and English for "cerebral palsy", "selective dorsal rhizotomy", and "physical therapy" were used in the search...
January 15, 2018: Revista Paulista de Pediatria: Orgão Oficial da Sociedade de Pediatria de São Paulo
https://www.readbyqxmd.com/read/29396170/deep-brain-stimulation-for-dystonia-due-to-cerebral-palsy-a-review
#3
REVIEW
Antonio E Elia, Caterina F Bagella, Francesca Ferré, Giovanna Zorzi, Daniela Calandrella, Luigi M Romito
Cerebral palsy (CP) is a heterogeneous group of syndromes that cause a non-progressive disorder of early onset, with abnormal control of movement and posture. Various aetiologies can cause the CP clinical spectrum, but all have a disruption of motor control in common. CP can be divided into four major types based on the motor disability: predominant spastic, dyskinetic, ataxic and mixed form. Dyskinetic CP (DCP) is the most common cause of acquired dystonia in children. The treatment of DCP is challenging because most individuals have mixed degrees of chorea, athetosis and dystonia...
March 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29132464/-clinical-manifestations-and-genetic-diagnosis-of-paroxysmal-kinesigenic-dyskinesia
#4
Xiao-Ming Zhu, Yu-Hong Gong, Si Lu, Shou-Chao Cheng, Bao-Zhen Yao
The clinical manifestations of five children with paroxysmal kinesigenic dyskinesia (PKD) were retrospectively analyzed and their gene mutations were analyzed by high-throughput sequencing and chromosome microarray. The 5 patients consisted of 4 males and 1 female and the age of onset was 6-9 years. Dyskinesia was induced by sudden turn movement, scare, mental stress, or other factors. These patients were conscious and had abnormal posture of unilateral or bilateral extremities, athetosis, facial muscle twitching, and abnormal body posture...
November 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28955728/hyperventilation-athetosis-in-asxl3-deficiency-bainbridge-ropers-syndrome
#5
Rubina Dad, Susan Walker, Stephen W Scherer, Muhammad Jawad Hassan, Suk Yun Kang, Berge A Minassian
No abstract text is available yet for this article.
October 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28650581/deficiency-of-wars2-encoding-mitochondrial-tryptophanyl-trna-synthetase-causes-severe-infantile-onset-leukoencephalopathy
#6
Benjamin E Theisen, Anastasia Rumyantseva, Julie S Cohen, Wendy A Alcaraz, Deepali N Shinde, Sha Tang, Siddarth Srivastava, Jonathan Pevsner, Aleksandra Trifunovic, Ali Fatemi
Pathogenic variants in the mitochondrial aminoacyl tRNA synthetases lead to deficiencies in mitochondrial protein synthesis and are associated with a broad range of clinical presentations usually with early onset and inherited in an autosomal recessive manner. Of the 19 mitochondrial aminoacyl tRNA synthetases, WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, was as of late the only one that had not been associated with disease in humans. A case of a family with pathogenic variants in WARS2 that caused mainly intellectual disability, speech impairment, aggressiveness, and athetosis was recently reported...
September 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28588358/marchiafava-bignami-s-disease-as-etiologic-diagnosis-of-athetosis
#7
Alberto Vargas Canas, Mario Rivas, Rodrigo Guerrero Torrealba, María Francisca Fajre Caamano
The Marchiafava-Bignami disease, characterized by demyelination and necrosis of the corpus callosum, has typically been associated with chronic alcohol intake, and clinically has various symptoms and signs. However, several cases have been reported without alcohol association, and these - according to several publications - have some common points, such as preference for female, related to malnutrition, and radiological involvement of the splenium of the corpus callosum. We report a case of a patient with the characteristics described above and whose clinical manifestation was Athetosis...
May 2017: Annals of Neurosciences
https://www.readbyqxmd.com/read/28566775/orthopedic-surgery-in-cerebral-palsy-instructional-course-lecture
#8
Deepak Sharan
Orthopedic surgery (OS) plays an important role in the management of cerebral palsy (CP). The objectives of OS are to optimize functions and prevent deformity. Newer developments in OS for CP include emphasis on hip surveillance, minimally invasive procedures, use of external fixators instead of plates and screws, better understanding of lever arm dysfunctions (that can only be corrected by bony OS), orthopedic selective spasticity-control surgery, and single-event multilevel lever arm restoration and anti spasticity surgery, which have led to significant improvements in gross motor function and ambulation, especially in spastic quadriplegia, athetosis, and dystonia...
May 2017: Indian Journal of Orthopaedics
https://www.readbyqxmd.com/read/28484905/historical-perspectives-on-ancient-greek-derived-a-prefixed-nomenclature-for-acquired-neurocognitive-impairment
#9
REVIEW
Philip Gerard Gasquoine
Distinct forms of acquired neurocognitive impairment are often described by "a" prefixed terms that derive from ancient Greek (and in one case Latin). Two modern English language neurological and neuropsychological reference books were searched to identify 17 such terms in contemporary usage: amnesia, akinesia, ataxia, aphasia, agraphia, anosmia, apraxia, athetosis, ageusia, achromatopsia, agnosia, alexia, amusia, anomia, anarthria, anosognosia, and acalculia. These were traced to their initial association with acquired neurocognitive impairment in German, English, and French language medical publications from the late 18th, 19th, and early 20th centuries (1770 through 1920)...
June 2017: Neuropsychology Review
https://www.readbyqxmd.com/read/28012542/audiological-findings-in-children-with-ataxia-telangiectasia-a-t-syndrome
#10
Pretty O Afifi, Hanaa Hussein Elsanadiky
AIM: To assess peripheral and central hearing in children with A-T. METHOD: 3 children diagnosed with A-T according to the diagnostic criteria for A-T of the European Society for Immunodeficiencies. Involuntary movements were seen in the form of chorea-athetosis together with tremors. They were examined to assess both peripheral and central hearing was assessed (hearing thresholds). Sound-field testing, tympanometry, acoustic reflexes, Otoacoustic Emissions (OAEs) and Auditory Brainstem Responses (ABR) were done for all of them...
January 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/27773422/clinical-characteristics-and-long-term-outcomes-of-movement-disorders-in-childhood-thalamic-tumors
#11
Zsila S Sadighi, Jennifer Zabrowski, Frederick A Boop, Alberto Broniscer, Amar Gajjar, Raja B Khan
BACKGROUND: We studied the outcomes of movement disorders that were associated with childhood thalamic tumors. METHODS: We retrospectively reviewed 83 children with thalamic tumors treated at our institution from 1996 to 2013 to document the incidence and outcome of movement disorders. Magnetic resonance imaging was used to analyze the involvement of thalamic nuclei, and three instruments were used to rate the severity of the disorders. RESULTS: Nine (11%) patients had one or more of the following movement disorders: postural tremor, resting tremor, ballism, dystonia, myoclonus, and athetosis...
December 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27754763/novel-mutation-in-hprt1-causing-a-splicing-error-with-multiple-variations
#12
Shimpei Baba, Takashi Saito, Yasukazu Yamada, Eri Takeshita, Noriko Nomura, Kenichiro Yamada, Nobuaki Wakamatsu, Masayuki Sasaki
Lesch-Nyhan disease (LND) is a rare X-linked recessive disorder caused by deficiency of the purine salvage enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT), encoded by the HPRT1. To date, nearly all types of mutations have been reported in the whole gene; however, duplication mutations are rare. We here report the case of a 9-month-old boy with LND. He showed developmental delay, athetosis, and dystonic posture from early infancy, but no self-injurious behaviors. Hyperuricemia was detected, and his HPRT enzyme activity in erythrocytes was completely deficient...
January 2, 2017: Nucleosides, Nucleotides & Nucleic Acids
https://www.readbyqxmd.com/read/27329512/auto-immune-anti-n-methyl-d-aspartate-receptor-anti-nmdar-encephalitis-three-case-reports
#13
Fahad A Bashiri, Abdulrahman A Al-Rasheed, Saeed M Hassan, Muddathir H A Hamad, Heba Y El Khashab, Amal Y Kentab, Fahad B AlBadr, Mustafa A Salih
Anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis is a recently identified auto-immune disorder characterised by severe memory deficit, a decreased level of consciousness, seizures, autonomic dysfunction and movement disorders. Three girls with the disorder are reported; they were aged 4 years, 5 years and 10 months. The 10-month-old infant who is one of the youngest patients reported with anti-NMDAR encephalitis worldwide, had MRI features suggestive of herpes simplex encephalitis (known to trigger anti-NMDAR encephalitis), but CSF PCR for herpes simplex was negative...
August 2017: Paediatrics and International Child Health
https://www.readbyqxmd.com/read/27209088/clonic-perseveration-after-acute-ischemic-stroke-an-insight-into-the-pathophysiological-mechanisms
#14
José Luiz Pedroso, Thiago Cardoso Vale, Marcos Knobel, Rodrigo Meirelles Massaud, Elias Knobel
Poststroke movement disorders may manifest as parkinsonism, dystonia, chorea, ballism, athetosis, tremor, myoclonus, stereotypies, and akathisia. In this article, we describe a patient with clonic perseveration 2 days after an acute ischemic stroke. We discuss the phenomenology and provide insights on possible pathophysiological mechanisms involved.
August 2016: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/26888551/rater-reliability-and-scoring-duration-of-the-quality-function-measure-in-ambulant-children-with-hyperkinetic-movement-disorders
#15
Kylee Tustin, Hortensia Gimeno, Erin Morton, Jonathan Marsden
AIM: To examine intra- and interrater reliability/agreement, and time taken to score, when the Quality Function Measure (QFM) is applied to children with hyperkinetic movement disorders (HMD; e.g. dystonia, chorea, athetosis, tremor, and myoclonus). METHOD: Fifteen ambulant children with HMD participated (eight males, seven females; mean age 13y 7mo, SD 3y 7mo). Three trained raters (two physiotherapists, one occupational therapist) independently scored the QFM using videos of each child performing Gross Motor Function Measure (GMFM) Stand and Walk/Run/Jump dimensions...
August 2016: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/26778811/holmes-tremor-as-a-delayed-complication-of-thalamic-stroke
#16
William Alves Martins, Luiz Carlos Porcello Marrone, Helena Fussiger, Viviane Maria Vedana, Rafael do Amaral Cristovam, Marjorye Z Taietti, Antonio Carlos Huf Marrone
Movement disorders are not commonly associated with stroke. Accordingly, thalamic strokes have rarely been associated with tremor, pseudo-athetosis and dystonic postures. We present a 75-year-old man who developed a disabling tremor 1 year after a posterolateral thalamic stroke. This tremor had low frequency (3-4 Hz), did not disappear on focus and was exacerbated by maintaining a static posture and on target pursuit, which made it very difficult to perform basic functions. MRI demonstrated an old ischemic lesion at the left posterolateral thalamus...
April 2016: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/26664992/dystonia-and-paroxysmal-dyskinesias-under-recognized-movement-disorders-in-domestic-animals-a-comparison-with-human-dystonia-paroxysmal-dyskinesias
#17
REVIEW
Angelika Richter, Melanie Hamann, Jörg Wissel, Holger A Volk
Dystonia is defined as a neurological syndrome characterized by involuntary sustained or intermittent muscle contractions causing twisting, often repetitive movements, and postures. Paroxysmal dyskinesias are episodic movement disorders encompassing dystonia, chorea, athetosis, and ballism in conscious individuals. Several decades of research have enhanced the understanding of the etiology of human dystonia and dyskinesias that are associated with dystonia, but the pathophysiology remains largely unknown. The spontaneous occurrence of hereditary dystonia and paroxysmal dyskinesia is well documented in rodents used as animal models in basic dystonia research...
2015: Frontiers in Veterinary Science
https://www.readbyqxmd.com/read/26595944/medical-devices-exemption-from-premarket-notification-class-ii-devices-electric-positioning-chair-final-order
#18
(no author information available yet)
The Food and Drug Administration (FDA or the Agency) is publishing an order granting a petition requesting exemption from premarket notification requirements for electric positioning chair devices. An electric positioning chair is a device with a motorized positioning control that is intended for medical purposes and that can be adjusted to various positions. These devices are used to provide stability for patients with athetosis (involuntary spasms) and to alter postural positions. This order exempts electric positioning chairs, class II devices, from premarket notification, subject to certain conditions for exemption...
November 20, 2015: Federal Register
https://www.readbyqxmd.com/read/26344814/the-hyperkinetic-movement-disorder-of-foxg1-related-epileptic-dyskinetic-encephalopathy
#19
Elena Cellini, Aglaia Vignoli, Tiziana Pisano, Melania Falchi, Anna Molinaro, Patrizia Accorsi, Alessia Bontacchio, Lorenzo Pinelli, Lucio Giordano, Renzo Guerrini
AIM: Forkhead Box G1 (FOXG1) syndrome is a developmental encephalopathy characterized by postnatal microcephaly, structural brain abnormalities, facial dysmorphisms, severe delay with absent language, defective social interactions, and epilepsy. Abnormal movements in FOXG1 syndrome have often been mentioned but not characterized. METHOD: We clinically assessed and analysed video recordings of eight patients with different mutations or copy number variations affecting the FOXG1 gene and describe the peculiar pattern of the associated movement disorder...
January 2016: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/26132226/improving-target-acquisition-for-computer-users-with-athetosis
#20
Dan Ding, Sergio Peral Rodriguez, Rory A Cooper, Cameron N Riviere
Prior work has highlighted the challenges faced by people with athetosis when trying to acquire on-screen targets using a mouse or trackball. The difficulty of positioning the mouse cursor within a confined area has been identified as a challenging task. We have developed a target acquisition assistance algorithm that features transition assistance via directional gain variation based on target prediction, settling assistance via gain reduction in the vicinity of a predicted target, and expansion of the predicted target as the cursor approaches it...
2015: Assistive Technology: the Official Journal of RESNA
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