title: Camptocormia as presenting manifestation of a spectrum of myopathic disorders.
abstract: BACKGROUND
  Camptocormia is the involuntary flexion of the thoracolumbar spine leading to an abnormal posture.
  
  
  METHODS
  We retrospectively identified patients with myopathy who manifested with camptocormia and were seen in our neuromuscular clinic. The diagnosis of myopathy was based on myopathic electromyographic changes, often accompanied by 1 or more of the following: elevated creatine kinase (CK); myopathic histopathological findings; and genetic confirmation.
  
  
  RESULTS
  Fifty-two patients were identified; 35 had symptoms limited to camptocormia, but were found to have additional weakness of facial (8 patients), neck (11 patients), and limb muscles (17 patients). CK values were normal or mildly to moderately elevated. MRI/CT of the spine showed paraspinal muscle atrophy and fat replacement. Facioscapulohumeral muscular dystrophy and sporadic inclusion body myositis were the most commonly identified myopathies in this cohort.
  
  
  CONCLUSIONS
  Despite the difficulty in characterizing the myopathy in patients with camptocormia, a definitive diagnosis was possible in 54% of cases. The pattern of associated extra-axial weakness may provide clues to the diagnosis.
authors.affiliation: Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.|Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, Minnesota, 55905, USA.
authors.forename: Partha S
authors.initials: PS
authors.lastname: Ghosh
authors.affiliation: Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, Minnesota, 55905, USA.
authors.forename: Margherita
authors.initials: M
authors.lastname: Milone
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D003402:Creatine Kinase / Q000378:metabolism; D004558:Electric Stimulation; D004576:Electromyography; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000503:physiopathology; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis* / Q000503:physiopathology*; D009135:Muscular Diseases / Q000503:physiopathology*; D012129:Respiratory Function Tests; D013121:Spinal Curvatures / Q000175:diagnosis* / Q000503:physiopathology*
chemical_list: D003402:Creatine Kinase
keywords: axial myopathy; bent spine syndrome; camptocormia; muscle weakness; myopathy