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Electrically active immune-mediated rippling muscle disease preceding breast cancer

Teerin Liewluck1, Brent P Goodman, Margherita Milone

  • 1Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA.

The Neurologist
|May 3, 2012
PubMed
Abstract

Insights

Rippling muscle disease (RMD) can be electrically active and linked to cancer. This case shows immune-mediated RMD preceding breast cancer, suggesting a potential paraneoplastic syndrome.

Area of Science:

  • Neurology
  • Immunology
  • Oncology

Background:

  • Rippling muscle disease (RMD) is a rare neuromuscular disorder characterized by muscle hyperexcitability.
  • While typically electrically silent, RMD can exhibit electrical activity and may be immune-mediated (iRMD).
  • The association between iRMD and cancer is exceptionally rare.

Observation:

  • A patient presented with electrically active iRMD before breast cancer diagnosis.
  • The patient had acetylcholine receptor antibodies but no myasthenia gravis.
  • Muscle biopsy showed inflammation and caveolin-3 deficiency, with no caveolin-3 gene mutation.

Findings:

  • Immune-mediated RMD with abnormal electrical activity preceded breast cancer.
  • The patient responded to immunotherapy, with RMD resolution and antibody disappearance.
  • Caveolin-3 deficiency was observed without a genetic mutation, suggesting an acquired cause.

Implications:

  • Electrically active iRMD may represent a spectrum of neuromuscular hyperexcitability disorders.
  • The temporal link between iRMD and breast cancer suggests a possible paraneoplastic phenomenon.
  • This case highlights the importance of investigating potential underlying malignancies in iRMD patients.

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