title: Camptocormia as a late presentation in a manifesting carrier of duchenne muscular dystrophy.
abstract: BACKGROUND
  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.
authors.affiliation: The Center for Gene Therapy, Nationwide Children's Hospital, 700 Children's Drive, Columbus, Ohio 43205, USA.
authors.forename: Andrew R
authors.initials: AR
authors.lastname: Findlay
authors.forename: Sarah
authors.initials: S
authors.lastname: Lewis
authors.forename: Zarife
authors.initials: Z
authors.lastname: Sahenk
authors.forename: Kevin M
authors.initials: KM
authors.lastname: Flanigan
mesh_terms: D000368:Aged; D005260:Female; D006579:Heterozygote; D006801:Humans; D018482:Muscle, Skeletal / Q000473:pathology*; D009134:Muscular Atrophy, Spinal / Q000209:etiology*; D020388:Muscular Dystrophy, Duchenne / Q000150:complications* / Q000235:genetics / Q000473:pathology; D013121:Spinal Curvatures / Q000209:etiology*