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Neurology
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Fenella Kirkham, Adnan Manzur, Stephanie Robb
The diagnosis of an extrapyramidal disorder is often made simply by observing the posture of the child at rest. Extrapyramidal disorders improve during sleep and examination under anaesthesia may be required to assess whether or not a deformity is fixed. The slow writhing movements of athetosis are a form of dystonia and may be distinguished from the rapid movements of chorea, although the two may occur together. There may be more difficulty in distinguishing some of the other movement disorders (seeTable 8.1).
Neurological disorders
Published in Michael Horvat, Ronald V. Croce, Caterina Pesce, Ashley Fallaize, Developmental and Adapted Physical Education, 2019
Michael Horvat, Ronald V. Croce, Caterina Pesce, Ashley Fallaize
There are several forms of athetoid, the most common type of which is characterized by rotary movements. The amount of movement increases during periods of excitement or tension but can decline when children are in a calm and relaxed state. Mild to moderate athetosis includes movement in one or two limbs, whereas severe involvement entails three or four limbs. Another form of athetosis, called choreoathetosis, causes uncontrollable spasms that inhibit useful movement. Spasms in severe athetosis are more proximal and are characterized by flying arms and legs during movements. The distinguishing feature of athetoid is involuntary, uncontrollable movements of body parts. Although the reflexes are normal, performance of simple motor tasks may be difficult because of the uncontrollable, involuntary movements. It is also more noticeable during slow controlled movements, such as walking, as opposed to faster movements, such as running (UCP, 2018; NINDS, 2013).
Methods for assigning impairment
Published in Ramar Sabapathi Vinayagam, Integrated Evaluation of Disability, 2019
Chorea is a rapid, jerky non-repetitive involuntary movement. Chorea may involve both proximal, distal muscles and tongue. Respiratory irregularity may coexist with chorea. Athetosis is a slow, writhing involuntary movement.
A novel mutation in ATM gene in a Saudi female with ataxia telangiectasia
Published in International Journal of Neuroscience, 2021
Hussein Algahtani, Bader Shirah, Raghad Algahtani, Mohammad H. Al-Qahtani, Angham Abdulrahman Abdulkareem, Muhammad Imran Naseer
Ataxia telangiectasia is a multi-system disorder in which the neurodegenerative process usually begins between the ages of 6 to 18 months and lead to wheelchair confinement by the age of 10 years. The cerebellar degeneration leads to truncal swaying, gait ataxia, dyssynergia, muscle hypotonia, and sudden falls [13]. The involvement of the basal ganglia is a common occurrence, which could be the initial presenting symptoms or as a part of the spectrum of the disease. Basal ganglia involvement may manifest as chorea, dystonia, dysphagia, athetosis, myoclonic jerks, or various tremors [14]. This association was illustrated more than five decades ago by Sedgwick and Boder’s report in 15 out of 20 patients [15]. Involuntary movements in ataxia telangiectasia are progressive, being mild in children and become more symptomatic in adults. Chorea is more common than dystonia in children, while dystonia becomes more aberrant with advancing age. Hypokinetic movement disorders are much less common than hyperkinetic movement disorders. Some patients may develop parkinsonian features with rigidity and resting tremors [16]. Our patients had an onset of ataxia at the age of 14 with slow progression and lack of basal ganglia manifestations, which may indicate that her mutation led to less severe neurodegenerative effects compared to other mutations in the ATM gene.
Ataxia-telangiectasia: epidemiology, pathogenesis, clinical phenotype, diagnosis, prognosis and management
Published in Expert Review of Clinical Immunology, 2020
Parisa Amirifar, Mohammad Reza Ranjouri, Martin Lavin, Hassan Abolhassani, Reza Yazdani, Asghar Aghamohammadi
In A-T patients, progressive gait and truncal ataxia are the main aspects of clinical manifestations. The progressive spinocerebellar neurodegeneration usually manifests between the ages of 1–4 years. At the beginning of their second decade, the movement problems typically cause a child to use a wheelchair [52]. Patients with A-T present with cerebellar dysfunction, including ataxia, hypotonic muscles, dyssynergia, truncal swaying, and balance difficulties [53]. They may develop increasing difficulty with abnormal involuntary movements, including dystonia, dysphagia, chorea and athetosis. Overall, a severe form of chorea, choreoathetosis, and dystonia are found in almost all patients with A-T [54,55]. Myoclonic jerking and various rhythmic tremors are observed in a quarter of patients.
Presence and severity of dystonia and choreoathetosis overflow movements in participants with dyskinetic cerebral palsy and their relation with functional classification scales
Published in Disability and Rehabilitation, 2020
Inti Vanmechelen, Saranda Bekteshi, Kyra Bossier, Hilde Feys, Jan Deklerck, Elegast Monbaliu
Dystonia refers to abnormal postures and repetitive movements due to intermittent muscle contractions [5] and is commonly triggered by voluntary movements which may be aggravated by distraction, overuse, fatigue, or pain [5]. Choreoathetosis is a hyperkinetic movement disorder with fluctuating tone [5,6] and can be further subdivided into chorea and athetosis. Chorea is characterized by ongoing movements with randomly appearing sequences [5,6]. Choreatic movements are rapid, involuntary, jerky, and often fragmented [6]. Athetosis is characterized by involuntary, discrete, slow, continuously changing, writhing, or contorting movements [5,6]. Both movement disorders are independently present in dyskinetic CP [7], but dystonia predominates in most patients [7].