Extra-muscle involvement in dystrophinopathies: an electroretinography and evoked potential study

J Neurol Sci. 1997 Mar 10;146(2):127-32. doi: 10.1016/s0022-510x(96)00292-4.

Abstract

Dystrophin is present in various tissues other than skeletal and cardiac muscles, including the central nervous system (CNS) and the outer plexiform layer of the retina. Therefore lack of dystrophin might be related to mental retardation or to changes in electrophysiological tests exploring retina and CNS. We performed electroretinography, VEPs, BAEPs, SEPs and MEPs in 18 patients with Duchenne muscular dystrophy (DMD), 18 with Becker muscular dystrophy (BMD) and 12 obligate carriers. We observed a marked reduction of the b-wave amplitude in the scotopic ERG, mainly in DMD patients. Oscillatory potentials were altered in all groups, even in carriers, suggesting that dystrophin may be also involved in retinal circulation. VEPs changes confirmed the role of dystrophin in visual function. The other evoked potentials were altered only in a small percentage of subjects but changes of different tests did not overlap in individual subjects. Neurophysiological abnormalities did not correlate with type, site and size of alteration in the dystrophin gene.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Dystrophin / genetics*
  • Electrooculography
  • Evoked Potentials*
  • Evoked Potentials, Auditory, Brain Stem
  • Evoked Potentials, Motor
  • Evoked Potentials, Somatosensory
  • Evoked Potentials, Visual
  • Gene Deletion
  • Heterozygote
  • Humans
  • Male
  • Median Nerve / physiology
  • Middle Aged
  • Muscular Dystrophies / genetics
  • Muscular Dystrophies / physiopathology*

Substances

  • Dystrophin