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Lesch–Nyhan disease and variants
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop
A quite different phenotype is what we have called the neurologic variant [32]. This picture, which has been observed in a small but important group of patients, is characterized by a neurologic examination that is identical to that of the classic Lesch–Nyhan patient. These patients are generally diagnosed as having cerebral palsy or athetoid cerebral palsy. They are confined to wheelchairs and unable to walk. The index patient was reported by Catel and Schmidt [32], as a patient with the Lesch–Nyhan syndrome in whom intelligence and behavior were normal. He has since been followed by Manzke and colleagues [33], and we had the opportunity to study him just after his graduation from university (Figure 65.17). He spoke English and German. There were no abnormalities of intelligence or behavior. His variant HPRT was zero in erythrocyte lysates, but activity was readily distinguished from Lesch–Nyhan disease by the intact cell assay [34]. Activity approached 10 percent of control, and there was enough activity to permit kinetic studies [35]. A maternal uncle had had a similar syndrome. Other patients have since been studied in whom variant enzymes have produced this phenotype [36, 37]. Behavior is normal and intelligence is normal or nearly normal.
Neurology
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Fenella Kirkham, Adnan Manzur, Stephanie Robb
Cerebral palsy, epilepsy, hydrocephalus, cervical cord damage (causes deteriorating pyramidal function) or vertebrobasilar dissection (causes recurrent strokes) in athetoid cerebral palsy with constant head movement.
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
Athetoid dyskinetic, or extrapyramidal cerebral palsy, results from a lesion in the basal ganglia that is located in the central portion of the cerebrum, which controls purposeful movement. Athetoid occurs in approximately 10% to 20% of all cases and is characterized by purposeless, involuntary, irregular movements in the extremities. Muscles of the head and upper limbs are mainly affected, with constant flexion in the upper limbs and extension of the fingers, wrists, and elbows while drawing the arms backward and palms downward.
Experience of families in accessing government-led support for children with disabilities in Bangladesh
Published in Disability and Rehabilitation, 2022
Reshma Parvin Nuri, Heather Michelle Aldersey, Setareh Ghahari, Ahmed Shafiqul Huque
I took physiotherapy services for my child with a disability from the government-led support center in our community for two years. The services were nice. However, there was no occupational therapist and speech and language therapist. That’s why I came to … [name of the private organization] for these services. I am living here [close to the private rehabilitation center] with my child with a disability for two years. My husband is having difficulties in taking leave from his work to make the long trek to Dhaka [capital of Bangladesh]. [Mother of a child with athetoid cerebral palsy]
What is the best treatment option for cervical spinal cord injury by os odontoideum in a patient with athetoid dystonic cerebral palsy?
Published in The Journal of Spinal Cord Medicine, 2021
Sungche Lee, Dong Hyun Kim, Yoon-Hee Choi
Athetoid dystonic cerebral palsy (ADCP) is a subtype of cerebral palsy caused by non-progressive encephalopathy mainly affecting the basal ganglia. It is characterized by involuntary and uncontrollable muscle contractions causing abnormal movements and postural abnormalities.1–3 Repetitive, involuntary head movements and hypertonicity of the related muscles, such as the neck flexor, extensor, and rotator muscles of ACDP patients, causes degenerative problems of the cervical vertebrae and cervical radiculomyelopathies.2,4–6