Neuromuscular abnormalities in ataxia telangiectasia: a clinical, electrophysiological and muscle ultrasound study
| Autor: | M. van Deuren, Annegien Broeks, Mijke M.M. Verhagen, H.J. ter Laak, Sigrid Pillen, N. van Alfen, M.A.A.P. Willemsen, J.L. Yntema, J.A.P. Hiel, Corry M.R. Weemaes |
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| Rok vydání: | 2007 |
| Předmět: |
Adult
Male Pathology medicine.medical_specialty Adolescent Neural Conduction Electromyography Ataxia Telangiectasia Perception and Action [DCN 1] Humans Medicine Child Muscle Skeletal Telangiectasia Heart lung and circulation [UMCN 2.1] medicine.diagnostic_test business.industry Vascular disease Ultrasound Infant Ultrasonography Doppler Neuromuscular Diseases General Medicine medicine.disease Electric Stimulation Neuromuscular development and genetic disorders [UMCN 3.1] Pathogenesis and modulation of inflammation [N4i 1] Electrophysiology medicine.anatomical_structure Genetic defects of metabolism [UMCN 5.1] Child Preschool Pediatrics Perinatology and Child Health Ataxia-telangiectasia Female Neurology (clinical) Microbial pathogenesis and host defense [UMCN 4.1] medicine.symptom business Polyneuropathy Functional Neurogenomics [DCN 2] Sensory nerve |
| Zdroj: | Neuropediatrics, 38, 3, pp. 117-21 Neuropediatrics, 38, 117-21 |
| ISSN: | 0174-304X |
| Popis: | Contains fulltext : 51577.pdf (Publisher’s version ) (Closed access) Thirteen classical ataxia telangiectasia (A-T) patients, varying in age from 1 to 25 years, were studied clinically, electrophysiologically as well as by muscle ultrasound to chart the development and spectrum of neuromuscular abnormalities in A-T. The most prominent finding was a progressive axonal sensorimotor polyneuropathy, apparent by electromyography and muscle ultrasound from the age of 8 years and becoming clinically discernible around 12 years of age. Before the age of 8 years decreased tendon reflexes and slightly slowed sensory nerve conduction velocities could already be observed. With routine electrophysiological techniques the severe polyneuropathy precludes conclusions about the presence of anterior horn cell loss in older patients. |
| Databáze: | OpenAIRE |
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