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Melorheostosis is a rare and progressive condition affecting bone formation in various areas of the skeleton, including the spine in unusual instances. The disease is not cancer-related and also impacts soft tissue formation. Melorheostosis can develop in both children and adults and is equally prevalent in men and women. The exact cause of the syndrome has yet to be determined, but the investigation of some current cases has uncovered a genetic link. To date, no standard protocol has demonstrated effectiveness in producing positive improvements across all cases. At the time of this writing, roughly 400 cases have been identified.

Symptoms of Melorheostosis include:

  • Irregular cortical bone thickening
  • Shortened tendons and ligaments
  • Joint tenderness and swelling, particularly in the arms and legs
  • Nerve compression due to bone lesions
  • Limited range of motion
  • Stiffness and pain

The causes of Melorheostosis our presently unknown, but the condition is thought to be connected to a specific gene mutation in a small number of individuals with the disease. Unfortunately, there is no further research showing any other genetic association.

X-ray imaging is the diagnostic tool of choice for confirming Melorheostosis, as MRIs often receive a poor signal. Bone scans also demonstrate positive result. The x-ray will frequently show thickened bone that looks much like dripping candle wax.

Therapy for Melorheostosis focuses on relieving symptoms. Treatment options are presently limited because there has yet to be a single choice discovered that has produced effective results for the majority of people with the condition. Physical and occupational therapy for strengthening and stretching, along with pain medication and hydrotherapy may be beneficial. Medication to aid in bone restructuring may also be prescribed.

Pain control is tricky, with steroids or non-steroidal anti-inflammatory drugs providing relief mainly in the early stages of the condition. On rare occasions, narcotics may be necessary.

If you have chronic stiffness and pain in your back or neck and would like to schedule an appointment to learn about treatment options, please contact our New Braunfels or Seguin offices.

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