Electrically active immune-mediated rippling muscle disease preceding breast cancer

Teerin Liewluck, Brent P. Goodman, Margherita Milone

Research output: Contribution to journalArticle

4 Scopus citations

Abstract

INTRODUCTION: Rippling muscle disease (RMD) is a rare disorder of muscle hyperexcitability clinically characterized by painful muscle stiffness, rippling phenomenon, percussion-induced muscle mounding, and rapid contraction. RMD is typically considered to be electrically silent, but electrical activity during the muscle rippling has been occasionally described. RMD could be genetically determined or immune-mediated (iRMD). The association between cancer and iRMD is extremely rare. CASE REPORT: We present here a patient with electrically active iRMD preceding the diagnosis of breast cancer. The patient had acetylcholine receptor binding antibodies but no clinical or electrophysiological signs of myasthenia. Muscle biopsy revealed inflammatory changes and a mosaic distribution of sarcolemmal caveolin-3 deficiency. Sequencing of caveolin-3 gene detected no mutation. Immunotherapy led to the resolution of the RMD and disappearance of the serum acetylcholine receptor antibodies. CONCLUSIONS: The abnormal electrical activity in this patient suggests that an acquired neuromuscular hyperexcitability syndrome represents a continuum of disorders. The close temporal relationship between the onset of iRMD and the diagnosis of breast cancer raises the possibility that iRMD might be paraneoplastic.

Original languageEnglish (US)
Pages (from-to)155-158
Number of pages4
JournalNeurologist
Volume18
Issue number3
DOIs
StatePublished - May 1 2012

Keywords

  • caveolin-3
  • myasthenia gravis
  • paraneoplastic neurological disorders
  • rippling muscle disease

ASJC Scopus subject areas

  • Clinical Neurology

Fingerprint Dive into the research topics of 'Electrically active immune-mediated rippling muscle disease preceding breast cancer'. Together they form a unique fingerprint.

  • Cite this