Muscle inflammation, autoimmune Addison's disease and sarcoidosis in a patient with dysferlin deficiency

Neuromuscul Disord. 2006 Mar;16(3):208-9. doi: 10.1016/j.nmd.2006.01.005. Epub 2006 Feb 17.

Abstract

Idiopathic inflammatory myopathies are a group of acquired, heterogeneous, systemic diseases commonly regarded as autoimmune disorders. Differential diagnosis includes muscular dystrophies, especially the dysferlin-deficiency myopathy. We report a case of a patient diagnosed with polymyositis and with associated autoimmune diseases that finally turned out to be a dysferlin deficiency (limb girdle muscular dystrophy type 2B). A possible link between dysferlin deficiency an autoimmunity is discussed.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Addison Disease / etiology*
  • Adult
  • Dysferlin
  • Humans
  • Male
  • Membrane Proteins / deficiency*
  • Muscle Proteins / deficiency*
  • Muscular Dystrophies, Limb-Girdle / complications
  • Muscular Dystrophies, Limb-Girdle / diagnosis*
  • Myositis / etiology*
  • Sarcoidosis / etiology*

Substances

  • DYSF protein, human
  • Dysferlin
  • Membrane Proteins
  • Muscle Proteins