Fifteen-minute consultation: Approach to investigation and management of childhood dystonia

2020 ◽  
pp. edpract-2019-318131
Author(s):  
Eva Bridget Forman ◽  
Mary D King ◽  
Kathleen M Gorman
Keyword(s):  
Cerebral Palsy ◽  
Movement Disorder ◽  
Muscle Contractions ◽  
Childhood Onset ◽  
Abnormal Movements ◽  
Hyperkinetic Movement Disorder ◽  
Surgical Options

Dystonia is a hyperkinetic movement disorder characterised by sustained or intermittent muscle contractions causing abnormal movements, postures or both. Dystonia is a challenging condition to diagnose and treat. Dystonia is often under-recognised in children, particularly in cerebral palsy, and frequently coexists with spasticity. This guide aims to simplify the approach to diagnosis, investigation and treatment of childhood-onset dystonia. The principle of treatment is similar regardless of the underlying aetiology: identification of potential triggers and consideration of both pharmacological and surgical options.

Sleep Exacerbations and Facial Twitching: Diagnostic Clues for ADCY5-Related Dyskinesias

2020 ◽  
Author(s):  
Margherita Nosadini ◽  
Gianluca D'Onofrio ◽  
Maria Federica Pelizza ◽  
Concetta Luisi ◽  
Davide Padrin ◽  
...  
Keyword(s):  
Movement Disorder ◽  
Developmental Delay ◽  
De Novo ◽  
Brain Magnetic Resonance Imaging ◽  
Neurological Impairment ◽  
De Novo Mutation ◽  
Oligoclonal Bands ◽  
Emotional Stimuli ◽  
Childhood Onset ◽  
Ataxic Gait

Abstract Background Mutations in the adenylate cyclase 5 (ADCY5) gene are associated with childhood-onset paroxysmal dyskinesia. Methods We report a new video-documented case of pediatric ADCY5-related dyskinesia with de novo ADCY5 mutation. Results A boy born to nonconsanguineous parents after an uneventful pregnancy had developmental delay and hypotonia. At the age of 7 months, he presented with paroxysmal jerky–choreic–dystonic involuntary movements in wakefulness involving limbs, trunk, and face, exacerbated by emotional stimuli. These episodes gradually worsened in duration and frequency: at the age of 2.5 years, they occurred up to six times per day, and appeared also during sleep in prolonged bouts; the boy also had basal choreoathetoid–dystonic movements, hyperactivity, paraparetic–ataxic gait, generalized hypotonia with brisk tendon reflexes, drooling, and language delay with intellectual disability. Brain magnetic resonance imaging, electroencephalogram, electromyogram, eye review, metabolic investigations, oligoclonal bands, and autoantibodies were normal. Extensive genetic testing had not let to a diagnosis, until a heterozygous de novo mutation c.1252C > T (p.Arg418Trp) was identified in the ADCY5 gene. Clonazepam had partial effectiveness. The boy walked at the age of 3.5 years. At the age of 5 years, the paroxysmal movement disorder has slightly improved. Conclusion ADCY5 mutations should be considered among the differential diagnoses of early-onset paroxysmal choreic–athetosic–myoclonic–dystonic movement disorder involving limbs, trunk, and face, in patients with global neurological impairment with hypotonia and developmental delay. Facial dyskinesias and exacerbation by drowsiness/sleep and emotional stimuli are important clues that may allow a timely recognition of the disorder and avoidance of unnecessary diagnostic investigations.

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 Hereditary spastic paraplegia associated with a rare endoplasmic reticulum lipid raft-associated protein 2 mutation

2020 ◽  
Vol 7 (10) ◽  
pp. 2077
Author(s):  
Sai Chandar Dudipala ◽  
Naveen Reddy Cheruku ◽  
Krishna Chaithanya Battu
Keyword(s):  
Endoplasmic Reticulum ◽  
Cerebral Palsy ◽  
Lipid Raft ◽  
Hereditary Spastic Paraplegia ◽  
Autosomal Recessive ◽  
Adult Population ◽  
Complex Form ◽  
Spastic Paraplegia ◽  
Childhood Onset ◽  
Exonic Deletion

Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous group of neurological disorders that are characterized by progressive spasticity of the lower extremities. It can present as pure form or complex form. It can be present from infancy to adulthood, but majority in adult population. Childhood onset HSP must be differentiated from common conditions like cerebral palsy, neurodegenerative disorders and metabolic disorders. Many patients with pediatric HSP are mistakenly diagnosed with cerebral palsy. In children with spastic paraplegia in whom no acquired cause identified, HSP should be considered. Here we diagnosed a 6-year-old boy with HSP who presented with progressive spastic paraplegia, intellectual disability, seizures, joint contractures and cataract. His genetic study revealed exonic deletion of endoplasmic reticulum lipid raft-associated protein gene, which is associated with complicated Autosomal recessive HSP 18 (SPG18). HSP 18 was rarely described in literature.

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

Taakspecifieke focale dystonie bij musici

2021 ◽  
Author(s):  
T. DOOMS
Keyword(s):  
Movement Disorder ◽  
Clinical Diagnosis ◽  
Clinical Picture ◽  
Specific Activity ◽  
Muscle Contractions ◽  
Focal Dystonia ◽  
Lower Limbs ◽  
Musical Activity ◽  
Neurological Movement Disorder ◽  
Rule Out

Task-specific focal dystonia in musicians Task-specific focal dystonia is a neurological movement disorder characterized by involuntary contractions during a specific activity. In musicians, the abnormal movement can occur while playing an instrument or while singing. The muscle contractions are usually painless, but the function of the affected region is disturbed. The clinical picture occurs more in men than in women and is most frequent in pianists or guitarists. The abnormality is usually localized in the fingers, the hands or the entire arm. Drummers can have problems in the lower limbs. Brass and woodwind players can lose control of the lips, tongue or facial muscles. This is called “embouchure dystonia”. Singers suffer from the larynx. The diagnosis is a clinical diagnosis. It is important to observe the musician making music. Outside the musical activity, all tests are normal. Technical examinations can be useful to rule out other diagnoses. The therapy is difficult and often unsatisfactory. In many cases, the disease predicts the end of the musical career.

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.

Long Term Results of Stereotactic Thalamotomy for Cerebral Palsy

Neurosurgery ◽  
1983 ◽  
Vol 12 (2) ◽  
pp. 195-202 ◽  
Author(s):  
G. Broggi ◽  
L. Angelini ◽  
R. Bono ◽  
C. Giorgi ◽  
N. Nardocci ◽  
...  
Keyword(s):  
Cerebral Palsy ◽  
Side Effects ◽  
Clinical Picture ◽  
Clinical Results ◽  
Long Term Results ◽  
Abnormal Movements ◽  
Average Intelligence ◽  
Stereotactic Thalamotomy

Abstract A group of 33 patients (between 10 and 30 years old and with average intelligence) underwent stereotactic surgery for abnormal movements due to cerebral palsy. Neurological, neurofunctional, and neuropsychological examinations were performed pre- and postoperatively. The length of follow-up ranged between 1 and 4 years. The clinical results are reported and discussed in relation to the targets, the side of the lesion, and the clinical picture. Our data show that better results are obtained in patients with tremor and hyperkinesias; dystonia is improved to a lesser extent, whereas spasticity tends to recur. Operation is more effective for patients with unilateral signs than for patients with bilateral symptoms. The clinical results are stable in time, and the side effects fade away after a few months.

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.

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