Myofibrillar myopathy with abnormal foci of desmin positivity. I. Light and electron microscopy analysis of 10 cases

J Neuropathol Exp Neurol. 1996 May;55(5):549-62. doi: 10.1097/00005072-199605000-00008.

Abstract

A number of myopathies whose common denominator is abnormal foci of desmin positivity have been described under the rubrics of spheroid body myopathy, cytoplasmic body myopathy, Mallory body myopathy, myopathy with granulofilamentous inclusions, desmin storage myopathy, and intermediate filament myopathy. In this study we reevaluate the light microscopic and ultrastructural features of the myopathy with abnormal foci of desmin positivity. In 10 cases of the disease, ultrastructural analysis reveals 2 major types of lesions: (a) foci of myofibrillar destruction and (b) hyaline structures that appear as spheroidal bodies on electron microscopy. The foci of myofibrillar destruction consist of fiber areas containing disrupted myofilaments, Z-disk-derived bodies, dappled dense structures of Z-disk origin, and streaming Z-disks that are sometimes adjacent to lakes of dense material. The spheroid bodies are composed of compacted and degraded myofibrillar elements. Membrane-bound vacuoles harboring degenerating membranous organelles are a less frequent and probably secondary abnormality. None of the lesions in muscle comprise 8 to 10 nm intermediate filaments. The findings imply that spheroid body myopathy, cytoplasmic body myopathy, Mallory body myopathy, and myopathy with granulofilamentous inclusions are consequences of a single or closely related pathologic processes. Because the common denominator appears to be focal dissolution of the myofibrils followed by accumulation of the products of the degradative process, we propose the term myofibrillar myopathy to cover the observed spectrum of pathologic changes.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Aged
  • Atrophy
  • Coloring Agents
  • Desmin / analysis*
  • Female
  • Frozen Sections
  • Humans
  • Immunoenzyme Techniques
  • Inclusion Bodies / chemistry*
  • Inclusion Bodies / ultrastructure
  • Intermediate Filaments / metabolism
  • Male
  • Microscopy, Electron
  • Middle Aged
  • Muscle Proteins / analysis*
  • Muscle, Skeletal / chemistry
  • Muscle, Skeletal / pathology*
  • Myofibrils / chemistry
  • Myofibrils / ultrastructure*
  • Myositis / metabolism
  • Myositis / pathology*
  • Neuromuscular Diseases / metabolism
  • Neuromuscular Diseases / pathology*
  • Resins, Plant
  • Terminology as Topic
  • Tissue Embedding

Substances

  • Coloring Agents
  • Desmin
  • Muscle Proteins
  • Resins, Plant