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

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 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

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.

The Expression of Schizophrenia, Affective Disorder and Vulnerability to Tardive Dyskinesia in an Extensive Pedigree

1988 ◽  
Vol 153 (3) ◽  
pp. 376-381 ◽  
Author(s):  
John L. Waddington ◽  
Hanafy A. Youssef
Keyword(s):  
Family History ◽  
Tardive Dyskinesia ◽  
Movement Disorder ◽  
Affective Disorder ◽  
Psychiatric Illness ◽  
Late Onset ◽  
Psychiatric Morbidity ◽  
Neuroleptic Treatment ◽  
History Of

The demography, psychiatric morbidity, and motor consequences of long-term neuroleptic treatment in the 14 children born to a father with a family history of chronic psychiatric illness and a mother with a late-onset affective disorder resulting in suicide are documented. Twelve siblings lived to adulthood, nine of whom were admitted to a psychiatric hospital in their second or third decade, and required continuous in-patient care; five remaining in hospital, with long-term exposure to neuroleptics, had chroniC., deteriorating, schizophrenic illness and emergence of movement disorder. Two siblings showed no evidence of psychosis but developed a late-onset affective disorder. The implications for the issues of homotypia, vulnerability to involuntary movements, and interaction with affective disorder are discussed.

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.

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
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