Camptocormia as a late presentation in a manifesting carrier of duchenne muscular dystrophy

Muscle Nerve. 2013 Jan;47(1):124-7. doi: 10.1002/mus.23497. Epub 2012 Nov 21.


Introduction: Camptocormia, or bent spine syndrome, is an abnormal posture consisting of forward flexion of the spine that disappears when a patient is supine. It is associated with a wide variety of myopathic disorders that affect paraspinal muscles, including inflammatory and inherited myopathies.

Methods: We describe a woman who presented with camptocormia in her eighth decade.

Results: Skeletal muscle biopsy showed mild nonspecific changes, but her family history was significant for a son who died of Duchenne muscular dystrophy (DMD). Genetic analysis of DMD confirmed that she was a heterozygous carrier of a mutation.

Conclusions: In the absence of any alternate explanation, we interpret her symptoms to be a manifestation of her DMD carrier state. To our knowledge, this represents the first reported example of camptocormia as the presenting symptom in a carrier and suggests that a manifesting carrier state should be considered in the differential diagnosis for women with unexplained camptocormia.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Female
  • Heterozygote
  • Humans
  • Muscle, Skeletal / pathology*
  • Muscular Atrophy, Spinal / etiology*
  • Muscular Dystrophy, Duchenne / complications*
  • Muscular Dystrophy, Duchenne / genetics
  • Muscular Dystrophy, Duchenne / pathology
  • Spinal Curvatures / etiology*

Supplementary concepts

  • Camptocormia