Dystonia - new advances in classification, genetics, pathophysiology and treatment

Skogseid, Inger Marie

doi:10.1111/ane.12231

Cited by 43 publications

(23 citation statements)

References 39 publications

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“…Moreover, it has been proposed to designate GCH1deficiency and THD as 'dystonia 5a' and 'dystonia 5b' [2,3].Tyrosine hydroxylase deficiency (OMIM191290) is a rare cause of autosomal recessive DRD due to mutations in TH on chromosome 11p15.5.The enzyme tyrosine hydroxylase (EC 1.14.16.2) catalyzes the conversion of L-tyrosine to L-dopa, which is the rate-limiting step in the biosynthesis of the catecholamine's.…”

Section: Discussionmentioning

confidence: 99%

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2015

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Section: Discussionmentioning

confidence: 99%

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2015

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“…[1][2][3][4][5][6][7][10][11] There are many forms of Paroxysmal Dystonia/Dyskinesia, but there are only a few that are ever diagnosed which are Paroxysmal Kinesigenic Dystonia (PKD), Paroxysmal Non-kinesigenic Dystonia (PNKD), and Paroxysmal Exercise-induced Dystonia (PED). The most common out of the three is PKD.…”

Section: Related Literaturementioning

confidence: 99%

NFL Wide Receiver with Paroxysmal Dystonia/Dyskinesia

Rairdon¹,

Dykuhuizen²,

Sparling³

et al. 2018

JSMAHS

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“…Focal hand dystonia in musicians is one of the major types of dystonia that has received a vast attention over period of time. 2 Focal hand dystonia which develops secondary to some condition like stroke, Parkinsonism or brain injury is although very devastating but still ignored.…”

Section: Introductionmentioning

confidence: 99%

Post-Stroke Focal Hand Dystonia

Umar

Masood

Badshah

2018

TPMJ

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ABSTRACT… Objectives:To determine the effects of Botulinum toxin A (BoNTA) with task specific training on hand function and quality of life in patients with post stroke focal dystonia of hand. Study Design: Randomized Controlled Trial. Place and Duration of Study: This study was conducted in Holy family hospital, The Neurocounsel and Chambeli Rehabilitation center from October 2015 to September 2016. Methodology: Both male and female patients suffering from stroke for at least 6 months with focal hand dystonia were included in this randomized controlled trial. 46 patients were recruited in the study through non probability purposive sampling and then were allocated to control (n=23) and experimental group (n=23) by random number list generated for 46 patients using SPSS software. Control group was provided with only task specific training while experimental group was provided with an injection of Botulinum Toxin A in addition to task-specific training. Data was collected from both groups at baseline and then after 8 weeks by using Action Research Arm Test (ARAT), Stroke specific quality of life (SS-QOL) and Arm dystonia disability scale (ADDS). Results: Although both groups showed significant improvements after training(P value <0.001) in both ARAT scale and SS-QOL but as shown by the difference of means of the groups, experimental group has shown more improvement than control group at the end of 8 weeks of intervention with P value<0.05. ADDS has also shown better results in reducing disability in experimental group as compared to control group. Conclusion: Botulinum toxin A prior to start of task specific training significantly improves outcome in post stroke focal hand dystonia patients than task specific training alone. Key Words:Focal Dystonia, Quality of Life, Task Specific Training, Botulinum Toxin A, SS-QOL.

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Dystonia - new advances in classification, genetics, pathophysiology and treatment

Cited by 43 publications

References 39 publications

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NFL Wide Receiver with Paroxysmal Dystonia/Dyskinesia

Post-Stroke Focal Hand Dystonia

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