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Progressive scoliosis in central core disease

Mertz, Kirsten D. ; Jost, Bernhard ; Glatzel, Markus ; Min, Kan

In: European Spine Journal, 2005, vol. 14, no. 9, p. 900-905

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    Title
    • Progressive scoliosis in central core disease
    Author
    • Mertz, Kirsten D.. Institute of Neuropathology, University Hospital Zurich, Schmelzbergstrasse 12, 8091, Zurich, CH, Switzerland
    • Jost, Bernhard. Balgrist Clinic, Department of Orthopedics, University of Zurich, Forchstrasse 340, 8008, Zurich, CH, Switzerland
    • Glatzel, Markus. Institute of Neuropathology, University Hospital Zurich, Schmelzbergstrasse 12, 8091, Zurich, CH, Switzerland
    • Min, Kan. Balgrist Clinic, Department of Orthopedics, University of Zurich, Forchstrasse 340, 8008, Zurich, CH, Switzerland
    Document Type
    • Postprint
    Language
    • English
    Published in
    • European Spine Journal, 2005, vol. 14, no. 9, p. 900-905. Springer-Verlag; http://www.springer.de
    Other Version
    OAI-PMH Identifier
    • oai:doc.rero.ch:312565
    Summary
    Central core disease (CCD) is a rare congenital myopathy with autosomal dominant inheritance. Here, we report on two cases of progressive scoliosis in CCD, pointing out the value of a muscle biopsy to establish the correct diagnosis. The first case involves a 13-year-old boy with severe progressive scoliosis and joint contractures. The patient was initially diagnosed with arthropgryposis multiplex congenita. The second case involves a 45-year-old man with severe scoliosis that had slowly progressed over the years. Both patients suffered from unexplained muscle weakness and severe restriction of pulmonary function. The correct diagnoses were established through muscle biopsies taken from the paravertebral musculature during scoliosis surgery. Correction of the spinal deformities was achieved through posterior instrumentation in both patients, with prior anterior release in one patient. Although scoliosis is a common feature in CCD, the correct diagnosis can be missed in scoliosis patients. Therefore, we recommend a muscle biopsy in patients with scoliosis, unexplained muscle weakness and multiple joint problems