Database : MEDLINE
Search on : athetosis [Words]
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[PMID]: 29412426
[Au] Autor:Nicolini-Panisson RD; Tedesco AP; Folle MR; Donadio MVF
[Ad] Address:Pontifícia Universidade Católica do Rio Grande do Sul, Porto Alegre, RS, Brasil.
[Ti] Title:RIZOTOMIA DORSAL SELETIVA NA PARALISIA CEREBRAL: CRITÉRIOS DE INDICAÇÃO E PROTOCOLOS DE REABILITAÇÃO FISIOTERAPÊUTICA PÓS-OPERATÓRIA. SELECTIVE DORSAL RHIZOTOMY IN CEREBRAL PALSY: SELECTION CRITERIA AND POSTOPERATIVE PHYSICAL THERAPY PROTOCOLS.
[So] Source:Rev Paul Pediatr;36(1):9, 2018 Jan-Mar.
[Is] ISSN:1984-0462
[Cp] Country of publication:Brazil
[La] Language:eng; por
[Ab] Abstract: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. Studies whose samples enrolled individuals with cerebral palsy who had attended physical therapy sessions for selective dorsal rhizotomy according to protocols and describing such protocols' characteristics were included. Literature reviews were excluded and there was no restriction as to period of publication. DATA SYNTHESIS: Eighteen papers were selected, most of them being prospective cohort studies with eight-month to ten-year follow-ups. In most studies, the instruments of assessment encompassed the domains of functions, body structure, and activity. The percentage of posterior root sections was close to 50%. Primary indications for SDR included ambulatory spastic diplegia, presence of spasticity that interfered with mobility, good strength of lower limbs and trunk muscles, no musculoskeletal deformities, dystonia, ataxia or athetosis, and good cognitive function. Postoperative physical therapy is part of SDR treatment protocols and should be intensive and specific, being given special emphasis in the first year. CONCLUSIONS: The studies underline the importance of appropriate patient selection to obatin success in the SDR. Postoperative physical therapy should be intensive and long-term, and must necessarily include strategies to modify the patient's former motor pattern.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:In-Process

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[PMID]: 29396170
[Au] Autor:Elia AE; Bagella CF; Ferré F; Zorzi G; Calandrella D; Romito LM
[Ad] Address:Department of Neurology - Movement Disorders, IRCCS Fondazione C. Besta, Milan, Italy.
[Ti] Title:Deep brain stimulation for dystonia due to cerebral palsy: A review.
[So] Source:Eur J Paediatr Neurol;22(2):308-315, 2018 Mar.
[Is] ISSN:1532-2130
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract: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. Pharmacological treatment is often unsatisfactory. Functional neurosurgery, in particular deep brain stimulation targeting the basal ganglia or the cerebellum, is emerging as a promising therapeutic approach in selected patients with DCP. We evaluated herein the effects of DBS on patients with DCP in a review of published patient data in the largest available studies.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1802
[Cu] Class update date: 180215
[Lr] Last revision date:180215
[St] Status:In-Process

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[PMID]: 29433091
[Au] Autor:van der Linden ML; Jahed S; Tennant N; Verheul MHG
[Ad] Address:Centre of Health, Activity and Rehabilitation Research, Queen Margaret University, Queen Margaret University Drive, Musselburgh EH21 6UU, UK. Electronic address: mvanderlinden@qmu.ac.uk.
[Ti] Title:The influence of lower limb impairments on RaceRunning performance in athletes with hypertonia, ataxia or athetosis.
[So] Source:Gait Posture;61:362-367, 2018 Feb 05.
[Is] ISSN:1879-2219
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract: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). Associations between impairment measures and 100-meter race speed were assessed using Spearman's correlation coefficients. RESULTS: Sixteen male and fifteen female athletes (27 with cerebral palsy), aged 23 (SD = 7) years, Gross Motor Function Classification System levels ranging from II to V, participated. The MSSL averaged over both legs and the ASAS, MAS, SCALE, and MMT summed over all joints and both legs, significantly correlated with 100 m race performance (rho: 0.40-0.54). Passive knee extension was the only ROM measure that was significantly associated with race speed (rho = 0.48). CONCLUSION: These results suggest that lower limb spasticity, isometric leg strength, selective voluntary motor control and passive knee extension impact performance in RaceRunning athletes. This supports the potential use of these measures in a future evidence-based classification system.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180212
[Lr] Last revision date:180212
[St] Status:Publisher

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[PMID]: 27773422
[Au] Autor:Sadighi ZS; Zabrowski J; Boop FA; Broniscer A; Gajjar A; Khan RB
[Ad] Address:Division of Neurology, Department of Pediatric Medicine, St. Jude Children's Research Hospital, Memphis, Tennessee. Electronic address: zsila.sadighi@stjude.org.
[Ti] Title:Clinical Characteristics and Long-Term Outcomes of Movement Disorders in Childhood Thalamic Tumors.
[So] Source:Pediatr Neurol;65:71-77, 2016 Dec.
[Is] ISSN:1873-5150
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract: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. Median age at tumor diagnosis was seven years (range, 0.25 to 11 years), and the average age at movement disorder onset was eight years (range, 1.5 to 11 years). Movement disorders developed at a median of 1.5 months (range, 0 to 4 months) after surgical resection. The severity of the disorders was either unchanged or slightly improved during follow-up. The red nuclei were the only thalamic structures that showed tumor involvement in all nine patients. CONCLUSIONS: No specific injury of the thalamic nuclei was associated with movement disorders in children with thalamic tumors, and the severity of these disorders did not change over time.
[Mh] MeSH terms primary: Brain Neoplasms/diagnostic imaging
Brain Neoplasms/surgery
Movement Disorders/diagnostic imaging
Movement Disorders/surgery
Thalamus/diagnostic imaging
Thalamus/surgery
[Mh] MeSH terms secundary: Brain Neoplasms/complications
Child
Child, Preschool
Female
Humans
Infant
Male
Movement Disorders/etiology
Retrospective Studies
Time Factors
Treatment Outcome
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 171212
[Lr] Last revision date:171212
[Js] Journal subset:IM
[Da] Date of entry for processing:161025
[St] Status:MEDLINE

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[PMID]: 29132464
[Au] Autor:Zhu XM; Gong YH; Lu S; Cheng SC; Yao BZ
[Ad] Address:Department of Pediatrics, Renmin Hospital of Wuhan University, Whuan 430060, China. jingfang612@163.com.
[Ti] Title:[Clinical manifestations and genetic diagnosis of paroxysmal kinesigenic dyskinesia].
[So] Source:Zhongguo Dang Dai Er Ke Za Zhi;19(11):1169-1173, 2017 Nov.
[Is] ISSN:1008-8830
[Cp] Country of publication:China
[La] Language:chi
[Ab] Abstract: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. The frequency of onset ranged from 3-5 times a month to 2-7 times a day, with a duration of <30 seconds every time. Electroencephalography showed no abnormality in these patients. Three patients had a family history of similar disease. The high-throughput sequencing results showed that a heterozygous mutation in the PRRT2 gene, c.649_650insC (p.R217PfsX8), was found in two patients; the mutation c.436C>T (p.P146S) was found in one patient; a splice site mutation, IVS2-1G>A, was found in one patient. The two mutations c.436C>T and IVS2-1G>A had not been reported previously. The chromosome microarray analysis was performed in one patient with negative results of gene detection, and the chromosome 16p11.2 deletion (0.55 Mb) was observed. Low-dose carbamazepine was effective for treatment of the 5 patients. PKD is a rare neurological disease. The detection of the PRRT2 gene by multiple genetic analysis can help the early diagnosis of PKD.
[Pt] Publication type:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Entry month:1711
[Cu] Class update date: 171114
[Lr] Last revision date:171114
[St] Status:In-Data-Review

  6 / 1344 MEDLINE  
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[PMID]: 28955728
[Au] Autor:Dad R; Walker S; Scherer SW; Hassan MJ; Kang SY; Minassian BA
[Ad] Address:Atta-ur Rahman School of Applied Biosciences (R.D., M.J.H.), National University of Sciences and Technology (NUST), Islamabad, Pakistan; Program in Genetics and Genome Biology (R.D.) and The Centre for Applied Genomics, Genetics and Genome Biology (S.W., S.W.S.), The Hospital for Sick Children, Depa
[Ti] Title:Hyperventilation-athetosis in deficiency (Bainbridge-Ropers) syndrome.
[So] Source:Neurol Genet;3(5):e189, 2017 Oct.
[Is] ISSN:2376-7839
[Cp] Country of publication:United States
[La] Language:eng
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1709
[Cu] Class update date: 171001
[Lr] Last revision date:171001
[St] Status:PubMed-not-MEDLINE
[do] DOI:10.1212/NXG.0000000000000189

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[PMID]: 28652255
[Au] Autor:Inlora J; Sailani MR; Khodadadi H; Teymurinezhad A; Takahashi S; Bernstein JA; Garshasbi M; Snyder MP
[Ad] Address:Department of Genetics, Stanford University, Stanford, California 94305, USA.
[Ti] Title:Identification of a novel mutation in the gene associated with ataxia-oculomotor apraxia.
[So] Source:Cold Spring Harb Mol Case Stud;3(6), 2017 Nov.
[Is] ISSN:2373-2873
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Hereditary ataxias are a clinically and genetically heterogeneous family of disorders defined by the inability to control gait and muscle coordination. Given the nonspecific symptoms of many hereditary ataxias, precise diagnosis relies on molecular genetic testing. To this end, we conducted whole-exome sequencing (WES) on a large consanguineous Iranian family with hereditary ataxia and oculomotor apraxia. WES in five affected and six unaffected individuals resulted in the identification of a homozygous novel stop-gain mutation in the gene (c.739A>T; p.Lys247*) that segregates with the phenotype. Mutations in the (OMIM 606350) gene are associated with ataxia with oculomotor apraxia type 1 (OMIM 208920).
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1706
[Cu] Class update date: 171122
[Lr] Last revision date:171122
[St] Status:In-Process

  8 / 1344 MEDLINE  
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[PMID]: 28650581
[Au] Autor:Theisen BE; Rumyantseva A; Cohen JS; Alcaraz WA; Shinde DN; Tang S; Srivastava S; Pevsner J; Trifunovic A; Fatemi A
[Ad] Address:Hugo W. Moser Research Institute at Kennedy Krieger, Kennedy Krieger Institute, Baltimore, Maryland.
[Ti] Title:Deficiency of WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, causes severe infantile onset leukoencephalopathy.
[So] Source:Am J Med Genet A;173(9):2505-2510, 2017 Sep.
[Is] ISSN:1552-4833
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract: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. Here we substantially extend and consolidate the symptomatology of WARS2 by presenting a patient with severe infantile-onset leukoencephalopathy, profound intellectual disability, spastic quadriplegia, epilepsy, microcephaly, short stature, failure to thrive, cerebral atrophy, and periventricular white matter abnormalities. He was found by whole-exome sequencing to have compound heterozygous variants in WARS2, c.938A>T (p.K313M) and c.298_300delCTT (p.L100del). De novo synthesis of proteins inside mitochondria was reduced in the patient's fibroblasts, leading to significantly lower steady-state levels of respiratory chain subunits compared to control and resulting in lower oxygen consumption rates.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1706
[Cu] Class update date: 170817
[Lr] Last revision date:170817
[St] Status:In-Process
[do] DOI:10.1002/ajmg.a.38339

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[PMID]: 28588358
[Au] Autor:Vargas Canas A; Rivas M; Guerrero Torrealba R; Francisca Fajre Caamano M
[Ad] Address:Unidad de Neurología Hospital Santiago Oriente "Dr. Luis Tisné", Santiago, Chile.
[Ti] Title:Marchiafava-Bignami's Disease, as Etiologic Diagnosis of Athetosis.
[So] Source:Ann Neurosci;24(1):57-60, 2017 May.
[Is] ISSN:0972-7531
[Cp] Country of publication:India
[La] Language:eng
[Ab] Abstract: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. The authors associate this manifestation with the somatotopic distribution of the corpus callosum, and contribute to the etiologic diagnosis of Athetosis as a manifestation of the Marchiafava-Bignami disease, which has not been reported in the medical literature according to our review of the database.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1706
[Cu] Class update date: 170611
[Lr] Last revision date:170611
[St] Status:PubMed-not-MEDLINE
[do] DOI:10.1159/000464424

  10 / 1344 MEDLINE  
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[PMID]: 28566775
[Au] Autor:Sharan D
[Ad] Address:Department of Pediatric Orthopedics and Rehabilitation, RECOUP Neuromusculoskeletal Rehabilitation Centre, Bengaluru, Karnataka, India.
[Ti] Title:Orthopedic surgery in cerebral palsy: Instructional course lecture.
[So] Source:Indian J Orthop;51(3):240-255, 2017 May-Jun.
[Is] ISSN:0019-5413
[Cp] Country of publication:India
[La] Language:eng
[Ab] Abstract: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. The results of OS can be dramatic and life altering for the person with CP and their caregivers if it is performed meticulously by a specialized surgical team, at the appropriate age, for the correct indications, employing sound biomechanical principles and is followed by physician-led, protocol based, intensive, multidisciplinary, institutional rehabilitation, and long term followup. However, OS can be a double-edged sword, and if performed less than optimally, and without the supporting multidisciplinary medical and rehabilitation team, expertise and infrastructure, it often leads to significant functional worsening of the person with CP, including irretrievable loss of previous ambulatory capacity. OS must be integrated into the long term management of the person with CP and should be anticipated and planned at the optimal time and not viewed as a "last resort" intervention or failure of rehabilitation. This instructional course lecture reviews the relevant contemporary principles and techniques of OS in CP.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1706
[Cu] Class update date: 170816
[Lr] Last revision date:170816
[St] Status:PubMed-not-MEDLINE
[do] DOI:10.4103/ortho.IJOrtho_197_16


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