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DOI: 10.1055/s-2007-985899
© Georg Thieme Verlag KG Stuttgart · New York
Neuromuscular Abnormalities in Ataxia Telangiectasia: A Clinical, Electrophysiological and Muscle Ultrasound Study
Publikationsverlauf
received 20.09.2006
accepted 23.08.2007
Publikationsdatum:
05. November 2007 (online)
Abstract
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.
Key words
ataxia telangiectasia - polyneuropathy - muscle ultrasound - neuromuscular abnormalities
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Correspondence
M. A. A. P. WillemsenMD, PhD
Radboud University Nijmegen Medical Centre
Department of Pediatric Neurology (820 IKNC)
PO Box 9101
6500 HB Nijmegen
The Netherlands
Telefon: +31/24/361 46 54
Fax: +31/24/361 78 18
eMail: m.willemsen@cukz.umcn.nl