scholarly journals Mutation of the WARS2 Gene as the Cause of a Severe Hyperkinetic Movement Disorder

2019 ◽  
Vol 7 (1) ◽  
pp. 88-90
Author(s):  
Annemarie Hübers ◽  
Hans‐Jürgen Huppertz ◽  
Saskia B. Wortmann ◽  
Jan Kassubek
Keyword(s):  
Movement Disorder ◽  
Hyperkinetic Movement Disorder

Hyperkinetic movement disorder in a child treated by globus pallidus stimulation

2009 ◽  
Vol 31 (6) ◽  
pp. 452-455 ◽  
Author(s):  
Ken Sato ◽  
Eiji Nakagawa ◽  
Yoshiaki Saito ◽  
Hirofumi Komaki ◽  
Hiroshi Sakuma ◽  
...  
Keyword(s):  
Movement Disorder ◽  
Globus Pallidus ◽  
Hyperkinetic Movement Disorder

scholarly journals Gain-of-function KCNJ6 Mutation in a Severe Hyperkinetic Movement Disorder Phenotype

Neuroscience ◽  
2018 ◽  
Vol 384 ◽  
pp. 152-164 ◽  
Author(s):  
Gabriella A. Horvath ◽  
Yulin Zhao ◽  
Maja Tarailo-Graovac ◽  
Cyrus Boelman ◽  
Harinder Gill ◽  
...  
Keyword(s):  
Movement Disorder ◽  
Gain Of Function ◽  
Hyperkinetic Movement Disorder

Recurrent GNAO1 Mutations Associated With Developmental Delay and a Movement Disorder

2016 ◽  
Vol 31 (14) ◽  
pp. 1598-1601 ◽  
Author(s):  
Leonie A. Menke ◽  
Marc Engelen ◽  
Mariel Alders ◽  
Vincent J. J. Odekerken ◽  
Frank Baas ◽  
...  
Keyword(s):  
Movement Disorder ◽  
Missense Mutation ◽  
Developmental Delay ◽  
Recurrence Risk ◽  
Epileptic Encephalopathy ◽  
Missense Mutations ◽  
Phenotype Correlation ◽  
Affected Child ◽  
Sibling Pairs ◽  
Hyperkinetic Movement Disorder

In 2 unrelated patients with axial hypotonia, developmental delay and a hyperkinetic movement disorder, a missense mutation was found in codon 209 of the GNAO1 gene. From the still scarce literature on GNAO1 mutations, a clear genotype-phenotype correlation emerged. From the 26 patients reported thus far, 12 patients had epileptic encephalopathy, and 14 had a developmental delay and a hyperkinetic movement disorder. All but 1 of the latter patients had missense mutations in GNAO1 codon 209 or 246, which thus appear to be mutation hotspots. At least 2 sibling pairs showed that the recurrence risk after 1 affected child with a GNAO1 mutation might be relatively high (5-15%), due to apparent gonadal mosaicism in the parents.

scholarly journals Treatment of Dystonia Using Trihexyphenidyl in Costello Syndrome

2020 ◽  
Vol 10 (7) ◽  
pp. 450
Author(s):  
Domenico M. Romeo ◽  
Alessandro Specchia ◽  
Alfonso Fasano ◽  
Chiara Leoni ◽  
Roberta Onesimo ◽  
...  
Keyword(s):  
Gait Analysis ◽  
Movement Disorder ◽  
Rating Scale ◽  
Costello Syndrome ◽  
Pharmacological Treatments ◽  
Musculoskeletal Problems ◽  
Skin Abnormalities ◽  
Hyperkinetic Movement Disorder ◽  
Dystonic Posture ◽  
Preliminary Study

Costello syndrome (CS), a rare syndrome with multisystemic involvement inherited as a dominant trait, is characterized by developmental delay, coarse facial appearance, cardiac defects including hypertrophic cardiomyopathy, skin abnormalities, brain complications, and a predisposition to certain malignancies. The musculoskeletal system is particularly affected in CS, with peculiar orthopedic anomalies that impact posture and gait. Dystonia has been recently documented to contribute to abnormal postures and musculoskeletal anomalies characterizing CS, suggesting the possible use of pharmacological treatments to treat these complications. We report the case of a child affected by CS displaying a particularly severe musculoskeletal involvement with dystonic posture especially in the arms and legs. The Movement Disorder-Childhood Rating Scale (MD-CRS) and a gait analysis were used to assess clinical patterns of hyperkinetic movement disorder and dystonia. The child was further treated with trihexyphenidyl for six months with a final dosage of 14 mg. MD-CRS and gait analysis assessments provided evidence for a significant improvement of posture and the related musculoskeletal problems with no side effects. Our preliminary study report provides first evidence that pharmacological anti-dystonia treatment significantly improves movement and posture disorders in patients with CS. Further studies enrolling larger cohorts of patients should be performed to validate these preliminary observations.

scholarly journals Reversible Hyperkinetic Movement Disorder Related to Quetiapine Withdrawal: A Case Report

2010 ◽  
Vol 19 (4) ◽  
pp. 347-348
Author(s):  
Mohammed Tauqeer Ahmad ◽  
Chun Wai Yip ◽  
Kumar M Prakash
Keyword(s):  
Case Report ◽  
Movement Disorder ◽  
Hyperkinetic Movement Disorder

Successful bilateral deep brain stimulation of the globus pallidus internus for persistent status dystonicus and generalized chorea

2010 ◽  
Vol 113 (3) ◽  
pp. 634-638 ◽  
Author(s):  
Diana Apetauerova ◽  
Clemens M. Schirmer ◽  
Jay L. Shils ◽  
Janet Zani ◽  
Jeffrey E. Arle
Keyword(s):  
Deep Brain Stimulation ◽  
Movement Disorder ◽  
Globus Pallidus ◽  
Brain Stimulation ◽  
Globus Pallidus Internus ◽  
Battery Life ◽  
Status Dystonicus ◽  
Hyperkinetic Movement Disorder ◽  
Deep Brain ◽  
Stimulation Of

The authors report the cases of 2 young male patients (aged 16 and 26 years) with dystonic cerebral palsy of unknown origin, who developed status dystonicus, an acute and persistent combination of generalized dystonia and chorea. Both patients developed status dystonicus after undergoing general anesthesia, and in 1 case, after administration of metoclopramide. In attempting to control this acute hyperkinetic movement disorder, multiple medication trials failed in both cases and patients required prolonged intubation and sedation with propofol. Bilateral deep brain stimulation of the globus pallidus internus (4 and 2 months after the onset of symptoms in the first and second case, respectively) produced immediate resolution of the hyperkinetic movement disorder in each case. Deep brain stimulation provided persistent suppression of the dystonic movement potential after a follow-up of 30 and 34 months, respectively, as demonstrated by the reemergence of severe dystonia during the end of battery life of the implantable pulse generators that was readily controlled by exchange of the generators in each case.

P591: Late onset myopathy and hyperkinetic movement disorder

2014 ◽  
Vol 125 ◽  
pp. S209
Author(s):  
D. Hopmann ◽  
A. Kivi ◽  
W. Stenzel ◽  
R. Ehret ◽  
J. Mueller
Keyword(s):  
Movement Disorder ◽  
Late Onset ◽  
Hyperkinetic Movement Disorder

Treatment of a hyperkinetic movement disorder during pregnancy with dronabinol

2009 ◽  
Vol 15 (3) ◽  
pp. 249-251 ◽  
Author(s):  
Muhammad U. Farooq ◽  
Edmond Ducommun ◽  
John Goudreau
Keyword(s):  
Movement Disorder ◽  
Hyperkinetic Movement Disorder

scholarly journals Status Dystonicus in Children with Secondary Dystonia: Reporting 3 Cases of Cerebral Palsy, Leigh Disease and Molybodynum Co Factor Deficiency

2020 ◽  
pp. 17-23
Author(s):  
Kanij Fatema ◽  
Md Mizanur Rahman ◽  
Shaheen Akhter
Keyword(s):  
Movement Disorder ◽  
Tertiary Care ◽  
Hospital Setting ◽  
Case Series ◽  
Care Hospital ◽  
Metabolic Complications ◽  
Leigh Disease ◽  
Secondary Dystonia ◽  
Status Dystonicus ◽  
Hyperkinetic Movement Disorder

Objective: Patients with primary and secondary dystonic syndromes occasionally develop severe episodes of generalized dystonia and rigidity which is known as status dystonicus (SD) or dystonic storm. This is a frightening hyperkinetic movement disorder and it is an emergency. Marked,                rapid exacerbation of dystonia requires prompt intervention and admission in the hospital. It is critical to recognize early and differentiate dystonic storm from other hyperkinetic movement disorder as it may lead to metabolic complications such as rhabdomyolysis, leading to acute            renal failure. This paper has been written to describe three cases of SD, all having secondary dystonia with different etiologies to highlight the mode of presentation, diagnosis, treatment and outcome. Methodology: We report 3 cases of severe secondary dystonia culminating in SD necessitating management in hospital setting. All the three cases were admitted in a tertiary care hospital and evaluated. Results: One patient was treated in intensive care unit. In brief 1st case was a 5 year boy with dyskinetic CP who was treated with trihexiphenidyl (THP), baclofen and midazolam infusion. Second case was a 15 month old boy, diagnosed case of mitochondrial encephalopathy (Leigh disease) who was treated with THP, baclofen, haloperidol, clonazepam and infusion midazolam. The third case was a 13 month old boy, diagnosed case of Molybdenum Cofactor deficiency who was treated with THP, tizanidine but they refused to take midazolam. Conclusion: In this case series, three cases with SD with different etiology have been described with clinical features, modalities of treatment and outcome.

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