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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 SJS aims to reduce muscle stiffness and cramping and may include massage, muscle warming, 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. 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 malignant hyperthermia, an associated complication, that can increase the risk of adverse outcomes.[1][2]
Last updated: 7/20/2016

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.


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.