Journal of Neurology

, Volume 258, Issue 5, pp 866–873 | Cite as

Camptocormia phenotype of FSHD: a clinical and MRI study on six patients

  • Berit Jordan
  • Katharina Eger
  • Sabrina Koesling
  • Stephan Zierz
Original Communications


Recently it has been postulated that there is an atypical facioscapulohumeral muscular dystrophy (FSHD) phenotype with isolated axial myopathy. Involvement of paraspinal and limb muscles was evaluated in six patients with molecularly proven FSHD and a predominant bent spine phenotype. Consistent with the camptocormia phenotype, the most severely affected muscles in all six patients were the thoracic and lumbar spinal tract together with hamstrings. MRI disclosed severe axial muscle degeneration but mostly subclinical involvement of limb muscles. The involvement of hip extensor muscles in FSHD might considerably contribute to the clinical phenotype of camptocormia due to axial muscle involvement.


FSHD Camptocormia Muscle MRI Bent spine Axial myopathy 


Conflict of interest

The authors declare that they have no conflict of interest.


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Copyright information

© Springer-Verlag 2010

Authors and Affiliations

  • Berit Jordan
    • 1
  • Katharina Eger
    • 1
  • Sabrina Koesling
    • 2
  • Stephan Zierz
    • 1
  1. 1.Department of NeurologyMartin-Luther University Halle-WittenbergHalle/SaaleGermany
  2. 2.Department of Radiology/NeuroradiologyMartin-Luther-University of Halle-WittenbergHalle/SaaleGermany

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