[Treatability of sporadic late onset nemaline myopathy]

Nervenarzt. 2013 Aug;84(8):955-61. doi: 10.1007/s00115-013-3825-5.
[Article in German]

Abstract

Sporadic late onset nemaline myopathy (SLONM) is an extremely rare disorder which can be associated with monoclonal gammopathy of unclear significance (MGUS). Clinically SLONM appears mostly after the fourth decade of life as rapidly progressing tetraparesis, respiratory insufficiency and features, such as dropped head syndrome, facial and bulbar involvement. Diagnosis is confirmed by muscle biopsy with detection of nemaline bodies and also frequently lobulated fibres. Immunosuppressant and immunomodulating therapies have been shown to be ineffective but clinical improvement accompanied by disappearance of monoclonal gammopathy and even nemaline bodies was reported following autologous stem cell transplantation and chemotherapy with melphalan. This article presents the case of a 53-year-old man with a 4-year history of SLOMN with MGUS in which administration of intravenous immunoglobulin therapy (IVIG) was not successful in reversing gammopathy, histopathological changes or clinical symptoms.

Publication types

  • Case Reports
  • English Abstract
  • Review

MeSH terms

  • Humans
  • Immunization, Passive / methods*
  • Immunologic Factors / therapeutic use*
  • Male
  • Melphalan / administration & dosage*
  • Middle Aged
  • Myeloablative Agonists / therapeutic use*
  • Myopathies, Nemaline / diagnosis*
  • Myopathies, Nemaline / therapy*
  • Stem Cell Transplantation / methods*
  • Treatment Outcome

Substances

  • Immunologic Factors
  • Myeloablative Agonists
  • Melphalan