Neuromuscular abnormalities in ataxia telangiectasia: a clinical, electrophysiological and muscle ultrasound study

Neuropediatrics. 2007 Jun;38(3):117-21. doi: 10.1055/s-2007-985899.

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.

MeSH terms

  • Adolescent
  • Adult
  • Ataxia Telangiectasia / complications*
  • Child
  • Child, Preschool
  • Electric Stimulation / methods
  • Electromyography
  • Female
  • Humans
  • Infant
  • Male
  • Muscle, Skeletal / diagnostic imaging*
  • Muscle, Skeletal / physiopathology*
  • Neural Conduction / physiology*
  • Neural Conduction / radiation effects
  • Neuromuscular Diseases* / diagnostic imaging
  • Neuromuscular Diseases* / etiology
  • Neuromuscular Diseases* / pathology
  • Ultrasonography, Doppler / methods