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Sandhoff disease/GM2 gangliosidosis/deficiency of Hex A and Hex B subunit deficiency
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
A small number of variant later-onset forms of Sandhoff disease have been observed. They have variously been referred to as juvenile, subacute or adult-chronic, but now that there are molecular distinctions, it is likely that there will be a spectrum of phenotype. The majority of these variants present between two and ten years of age, most often with ataxia, speech abnormalities, or incoordination [10–15]. There may be choreoathetosis or dystonia. Neurodegeneration is progressive, and seizures and spasticity develop. There may or may not be cherry red spots or, more commonly, retinitis pigmentosa and optic atrophy. By 10–15 years, the patient is blind and decerebrate, as in the infantile patient, and death shortly ensues. One patient referred to as having a juvenile form of Sandhoff disease [11] developed slurred speech, ataxia and some mental deterioration at five years of age. By ten years, he had spasticity, but the optic fundi were normal.
Choreoathetosis
Published in Richard A. Jonas, Jane W. Newburger, Joseph J. Volpe, John W. Kirklin, Brain Injury and Pediatric Cardiac Surgery, 2019
David L. Wessel, Adre J. du Plessis
After studying these initial 19 patients and while analyzing and reporting the data, we continued to see patients develop choreoathetosis. The total number of cases in this institution reached 37 (0.5% of surgical cases). Many of the more recent cases were milder forms of choreoathetosis that we may not have identified in the past, which we are more sensitive to now. In response to these observations, we changed several aspects of our technique, and after regularly seeing six to seven cases per year, we have had no patients with even mild choreoathetosis in more than two years.
Treatment of Varied Symptoms with 5-HTP
Published in Ethan Russo, Handbook of Psychotropic Herbs, 2015
He returned in another six months. He had been quite ill in the meantime with strep throat and then pneumonia. He had remained on Tegretol-XR 200 mg bid, with a rare miss during this illness. There had been no interim spells of the choreoathetosis. He occasionally would dream of it, and that bothered him, but not unduly. Eleventh grade was going quite well. He had a good driver’s record, with no accidents or tickets. He was active in drama and had a girlfriend. He was also working part-time at an ice cream parlor, up to 20 h a week.
Effect of targeted movement interventions on pain and quality of life in children with dyskinetic cerebral palsy: a pilot single subject research design to test feasibility of parent-reported assessments
Published in Disability and Rehabilitation, 2023
Nadine Smith, Simon Garbellini, Natasha Bear, Ashleigh Thornton, Peta Watts, Noula Gibson
Dyskinesia describes abnormal postures or movements associated with impaired muscle tone regulation, movement control, and coordination [1]. Children with dyskinetic cerebral palsy (CP) make up to 7–15% of the total population of children with CP, however this may be underreported due to mixed presentations of movement disorder [2–4]. Dystonia and choreoathetosis are simultaneously present in children with dyskinetic movement disorders, however dystonia is more predominant in the majority of children [5]. Dystonia is defined as involuntary sustained or intermittent muscle contractions causing twisting or repetitive movements, abnormal postures or both [6,7]. It has been identified as one of the most common causes of pain in children and youth with CP [8] and found to be a major predictor of emotional and behavioural problems [9]. Gross motor function, activity and participation are negatively impacted by the presence of dystonia, suggesting that dystonia should be addressed as a priority in children with CP [1].
Clinical Presentation of Spasticity and Passive Range of Motion Deviations in Dyskinetic Cerebral Palsy in Relation to Dystonia, Choreoathetosis, and Functional Classification Systems
Published in Developmental Neurorehabilitation, 2021
Saranda Bekteshi, Inti Vanmechelen, Marco Konings, Els Ortibus, Hilde Feys, Elegast Monbaliu
The current study found fair and significant correlations for spasticity and moderate to good/excellent and significant correlations for dystonia when correlated to the GMFCS and the MACS levels. This may indicate that spasticity has a negative impact on the functional abilities, but perhaps to a lesser extent than dystonia.6 Previous research suggests that the severity of dystonia may be such that any features of coexisting spasticity may be overlooked.8 When treatment focuses on reducing severe dystonia, an adverse effect could include worsening of choreoathetosis, which indicates that dystonia may prevent the full expression of choreoathetosis.2 Thus similarly, it may be that if treatment focuses on reducing severe dystonia while coexisting spasticity is left untreated, spasticity may surface and have a larger negative impact on function. The obtained insights in the current study on the presence, severity, and the distribution of dystonia, choreoathetosis, spasticity, and pROM deviations in DCP are clinically important to inform treatment management and ensure better clinical outcomes. Future research exploring more in-depth the clinical implications of this coexistence are recommended.
Eye Gaze Gaming Intervention in Children with Dyskinetic Cerebral Palsy: A Pilot Study of Task Performance and Its Relation with Dystonia and Choreoathetosis
Published in Developmental Neurorehabilitation, 2020
Saranda Bekteshi, Marco Konings, Inti Vanmechelen, Jan Deklerck, Els Ortibus, Jean-Marie Aerts, Hans Hallez, Petra Karlsson, Bernard Dan, Elegast Monbaliu
The present pilot study is the first to investigate the operational competences (screen navigation and dwell function) underlying eye gaze performance in children with severe DCP, and to explore the relation of dystonia and choreoathetosis with eye gaze performance. Findings from this pilot study suggest that children with DCP can benefit from eye gaze control technology as a successful computer interface. In this respect, given the obtained significant relation between fixation count and eye movement accuracy, and strong(er) relation between eye movement accuracy and task performance, it seems plausible that training of eye gaze skills addressing accuracy demands might be more beneficial to the user. Dystonia and choreoathetosis in the eye region were found to be generally unrelated to task performance, fixation count, and eye movement accuracy. An exception was the negative correlation of choreoathetosis duration with fixation count, which may indicate that participants prolong their fixations when they have higher presence of choreoathetosis in the eye region. This study shows positive signs of the usability of eye gaze devices as computer interface for individuals with severe DCP, thereby potentially improving their communication skills, participation levels, and quality of life.