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Diseases

Genetic and Rare Diseases Information Center (GARD)

Schwartz Jampel syndrome


Other Names for this Disease
  • Aberfeld syndrome
  • Burton skeletal dysplasia
  • Burton syndrome
  • Catel-Hempel syndrome
  • Dysostosis enchondralis metaepiphysaria, Catel-Hempel type
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Treatment

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How might Schwartz Jampel syndrome be treated?

Treatment of Schwartz Jampel syndrome (SJS) aims to reduce stiffness and cramping of muscles. This might include massages, warming of muscles, and gradual strengthening exercises. Medications might also be used and may include muscle relaxants and anti-seizure medications, particularly Carbamazepine. Botox might additionally be used to relieve eye symptoms such as blepharospasm (involuntary blinking of spasm of eyes). If Botox is not successful in managing eye symptoms, a variety of surgical techniques have been found to be effective. When considering surgery as an option, an important consideration is the risk for malignant hyperthermia, which could lead to adverse outcomes.[1][2]
Last updated: 4/13/2016

References
  1. Ault J. Schwartz-Jampel Syndrome. Medscape. October 09, 2014; http://emedicine.medscape.com/article/1172013-overview.
  2. Nessler M, Puchala, J, Kwiatkowski S, Kobylarz K, Mojsa I & Chrapusta-Klimeczek A. Multidisciplinary Approach to the Treatment of a Patient With Chondrodystrophic Myotonia (Schwartz-Jampel vel Aberfeld Syndrome): Case Report and Literature Review. Annals of Plastic Surgery. September 2011; 67(3):315-9. http://www.ncbi.nlm.nih.gov/pubmed/21263291.


GARD Video Tutorial

  • Finding Treatment Information - A video developed by GARD Information Specialists that explains how you can find information about treatment for a rare disease.

    Finding Treatment Information
Other Names for this Disease
  • Aberfeld syndrome
  • Burton skeletal dysplasia
  • Burton syndrome
  • Catel-Hempel syndrome
  • Dysostosis enchondralis metaepiphysaria, Catel-Hempel type
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.