Camptocormia as presenting sign in myofibrillar myopathy

Neuromuscul Disord. 2012 Nov;22(11):987-9. doi: 10.1016/j.nmd.2012.06.004. Epub 2012 Jun 28.

Abstract

Camptocormia, due to paraspinal muscle weakness, is seen in several types of myopathy. Myofibrillar myopathies (MFM) are histopathologically characterized by desmin-positive protein aggregates and myofibrillar disintegration. Camptocormia can be seen in the late stages of the known MFM diseases. We present a case of MFM with progressive camptocormia since the age of 64, isolated for 6years, followed later by upper and lower limb weakness. Camptocormia has never been described as the presenting clinical sign of MFM. MFM joins the growing number of myopathies potentially presenting with camptocormia.

Publication types

  • Case Reports

MeSH terms

  • Age of Onset
  • Aged
  • Cytoskeletal Proteins / genetics
  • Cytoskeletal Proteins / metabolism
  • Disease Progression
  • Female
  • Humans
  • Muscle Weakness / genetics
  • Muscle Weakness / metabolism
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / pathology
  • Muscular Atrophy, Spinal / complications
  • Muscular Atrophy, Spinal / genetics
  • Muscular Atrophy, Spinal / metabolism*
  • Muscular Diseases / etiology
  • Muscular Diseases / genetics
  • Muscular Diseases / metabolism*
  • Mutation / genetics
  • Myofibrils / genetics
  • Myofibrils / metabolism*
  • Spinal Curvatures / complications
  • Spinal Curvatures / genetics
  • Spinal Curvatures / metabolism*

Substances

  • Cytoskeletal Proteins

Supplementary concepts

  • Camptocormia