Search Results - "dystonia"

Intrathecal baclofen therapy for treatment of spasticity and dystonia in childhood by Ammar, Amr

Subjects: “…Intrathecal baclofen; Complications; Quality of life; Spasticity dystonia…”
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Mutant allele-specific CRISPR disruption in DYT1 dystonia fibroblasts restores cell function by Cruz, Lilian, Bence, György, Cheah, Pike See, Kleinstiver, Benjamin P., Eimer, William A., Garcia, Sara P., Sharma, Nutan, Ozelius, Laurie J., Cristopher, Bragg D., Joung, Keith J., Norberto de Souza, Osmar, Macedo Timmers, Luis Fernando Saraiva, Breakefield, Xandra O.

“…Most individuals affected with DYT1 dystonia have a heterozygous 3-bp deletion in the TOR1A gene (c.907_909delGAG). …”
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Incidence of ankle contracture after moderate to severe acquired brain injury by Singer, B., Gnanaletchumy, J., Singer, K., Allison, Garry, Dunne, J.

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Evaluation of serial casting to correct equinovarus deformity of the ankle after acquired brain injury in adults. by Singer, B., Gnanaletchumy, J., Singer, K., Allison, Garry

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Multimodal Investigation of Neuronal Responses by Pakenham, Daisie Olivia

Subjects: “…magnetoencephalography; MEG; functional connectivity; functional magnetic resonance imaging; fMRI; 7T; Focal hand dystonia; neuroimaging…”
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Asian australasian society of stereotactic and functional neurosurgery by Idris, Zamzuri

“…Stereotactic Brain Surgery: from simple lesional biopsy to deep brain stimulation in dystonia and Tourette syndrome Dr Zamzuri ldris Neurosciences HUSM…”
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An unusual cause of blepharospasm by Muda, Ahmad Sobri, Kwah, Y. G., Al-Edrus, Sharifah Aishah, Wong, S. L., Norzaini, M. Z., Viswanathan, Shanthi

“…This is the first reported case of blepharospasm with subsequent orofacial and neck dystonia caused by dilated Virchow-Robin spaces. The imaging findings and differential diagnoses are discussed.…”
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Receiver operating characteristics measure for the recognition of stuttering dysfluencies using line spectral frequencies by Alang Md Rashid, Nahrul Khair, Alim, Sabur Ajibola, Nik Hashim, Nik Nur Wahidah, Sediono, Wahju

“…Stuttering is a motor-speech disorder that has features in common with other motor control disorders such as dystonia, Parkinson’s disease, and Tourette’s syndrome. …”
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Application of a hermeneutic phenomenologically orientated approach to a qualitative study by Jones, F., Rodger, S., Ziviani, J., Boyd, Roslyn

“…Hermeneutic phenomenologically orientated study: Eleven parent-adolescent dyads of youth with cerebral palsy (8 males, 2 females, ages 12-14 years; Gross Motor Function Classification System (GMFCS) I=3, II=4, III=3, IV=1; Manual Abilities Classification System (MACS) I=5, II=2, III=4, IV=1, V=5; spasticity=10, dystonia=1; rural=1, regional=3, metropolitan=7). A step-by-step qualitative decision making pathway, including Colaizzi's methods, to facilitate investigation of the lived experience of adolescents with cerebral palsy was developed. …”
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Infantile neurodegenerative disorder associated with mutations in TBCD, an essential gene in the tubulin heterodimer assembly pathway by Edvardson, S., Tian, G., Cullen, H., Vanyai, H., Ngo, L., Bhat, S., Aran, A., Daana, M., Da'amseh, N., Abu-Libdeh, B., Cowan, N., Heng, Julian, Elpeleg, O.

“…Here we describe four patients from two unrelated families each with an infantile neurodegenerative disorder characterized by loss of developmental milestones at 9-24 months of age followed by seizures, dystonia and acquired microcephaly. The patients harboured homozygous missense mutations (A475T and A586V) in TBCD, a gene encoding one of five tubulin-specific chaperones (termed TBCA-E) that function in concert as a nanomachine required for the de novo assembly of the a/b tubulin heterodimer. …”
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Motor severity in children with cerebral palsy studied in a high-resource and low-resource country by Benfer, K., Jordan, R., Bandaranayake, S., Finn, C., Ware, R., Boyd, Roslyn

“…The patterns of motor type also differed significantly with more spasticity and less dyskinetic types in the Australian sample (spasticity, P < .01; dystonia, P < .01; athetosis, P < .01). Birth risk factors were more common in the Bangladesh sample, with risk factors of low Apgar scores (Australia, P < .01), lethargy/seizures (Australia, P = .01), and term birth (Bangladesh, P = .03) associated with poorer gross motor function. …”
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Sensory mapping using High-Resolution 7 T fMRI by Asghar, Michael

“…Specifically, future work in this area aims to consider whether there are any differences in Focal Hand Dystonia patients in the cortical representation of the digits, and/or departures from the norm in behavioural tasks.…”
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The relationship between unimanual capacity and bimanual performance in children with congenital hemiplegia by Sakzewski, L., Ziviani, J., Boyd, Roslyn

“…Sixty-five participants had spasticity and five had dystonia and spasticity. Fifteen typically developing children (7 males, 8 females; mean age 8y 8mo, SD 2y 7mo), matched to study participants for age and sex, were recruited as a comparison group for measures of sensation, grip strength, and movement efficiency. …”
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Impact of intensive upper limb rehabilitation on quality of life: A randomized trial in children with unilateral cerebral palsy by Sakzewski, L., Carlon, S., Shields, N., Ziviani, J., Ware, R., Boyd, Roslyn

“…Method Sixty-three children (mean age 10y 2mo [SD 2y 6mo]; 33 males, 30 females) with CP of the spastic motor type (n=59) or with spasticity and dystonia (n=4) were randomly allocated to two groups. …”
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Ibogaine (iboga tabernanthe) as a potential anti-addictive treatment in the pipeline : a short communication by Mohamed Nazar, Nor Ilyani

“…Physical side effects include QT prolongation, ataxia, dystonia, nausea, vomiting and light sensitivity. Various clinical and animal studies have been conducted worlwide with promising results. …”
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Functional neurological disorder: a qualitative study exploring experiences of psychological services by Staton, Amelia

“…Background: Functional Neurological Disorder (FND) is classified as a “disorder of the voluntary motor or sensory system with symptoms including paralysis, tremor, dystonia, sensory disturbance (including visual loss), speech symptoms, and seizures” (Stone et al., 2020, p.1). …”
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Investigating sensorimotor representations, processing and inhibition in Tourette Syndrome: Insights from fMRI, MRS and TMS by Smith, Caitlin Mairi

“…In populations with disruptions to cortical inhibitory functioning, such as Focal Hand Dystonia (FHD) which involves involuntary repetitive movements of the hand, abnormalities are evidenced in cortical sensorimotor representations of the fingers and hand muscles. …”
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A cellular model for aromatic L-amino acid decarboxylase deficiency and neurotransmitter analysis of available therapeutics using a neuroblastoma cell culture by Khalid, Melati

“…Movement disorder resulting from dopamine and serotonin deficiency produces characteristic dystonia and oculogyric crises that occur at regular intervals every 3 to 8 days, each episode lasting on average 6 hours. …”
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The effect of botulinum toxin-A on the functional ability of young children with spastic hemiplegia due to cerebral palsy by Love, Sarah C.

“…This was identified as the ‘early-start’ project.The outcome measures included measures of local technical response (MAS, R1 and R2) along with measures of functional ability and quality of movement (Gross Motor Function Measure, Gross Motor Performance Measure, Assisting Hand Assessment and the Physician Rating Scale).Increased functional gain and increased quality of movement of the children in the intervention (early-start) group compared with those in the control (standard practice) group was detected at follow-up at both two and three years of age.The findings also revealed that BoNT-A in doses of up to 12 Ukg-1 (BOTOX®, Allergan Pty Ltd, Irvine USA) proved to be safe and efficacious in the 20 children in this study, the youngest of whom was 11 months of age at admission. The possibility of dystonia being a contributor to contracture development also emerged as an interesting element of this second study.One issue that became obvious through the progress of the studies was the difficulty associated with the clinical identification and quantification of spasticity. …”
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