Neuropediatrics 2007; 38(3): 117-121
DOI: 10.1055/s-2007-985899
Original Article

© Georg Thieme Verlag KG Stuttgart · New York

Neuromuscular Abnormalities in Ataxia Telangiectasia: A Clinical, Electrophysiological and Muscle Ultrasound Study

M. M. M. Verhagen 1 , N. van Alfen 2 , S. Pillen 1 , 2 , C. M. R. Weemaes 1 , J. L. Yntema 1 , J. A. P. Hiel 3 , H. Ter Laak 4 , M. van Deuren 5 , A. Broeks 6 , M. A. A. P. Willemsen 7
  • 1Department of Pediatrics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
  • 2Department of Clinical Neurophysiology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
  • 3Department of Neurology, Máxima Medical Centre, Veldhoven, The Netherlands
  • 4Department of Pathology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
  • 5Department of Internal Medicine, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
  • 6Department of Experimental Therapy, The Netherlands Cancer Institute, Amsterdam, The Netherlands
  • 7Department of Pediatric Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Weitere Informationen

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.

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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