Schwartz–Jampel syndrome

Schwartz–Jampel syndrome
Synonyms Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies, Dysostosis enchondralis metaepiphysaria, Catel-Hempel type
Schwartz–Jampel syndrome is inherited in an autosomal recessive manner
Classification and external resources
Specialty neurology
ICD-10 G71.1  Q78.8
OMIM 255800
Orphanet 800

Schwartz–Jampel syndrome (SJS) is a rare genetic disease caused by a mutation in the HSPG2 gene, which makes the protein perlecan,[1] and causing osteochondrodysplasia associated with myotonia.[2]

Relationships between the disease and perlecan deficiency have been studied.[3]

Most people with Schwartz–Jampel syndrome have a nearly normal life expectancy.

History

The syndrome was first described in 1962 by Oscar Schwartz and Robert Jampel.[4][5]

In the media

In March 2013 there was media coverage on a 7-year-old boy with chronically tense muscles due to SJS and his three-legged pet dog. They became first-place winners of the 2013 Crufts Kennel Club's annual Friends for Life competition which "celebrates dogs that have truly earned the title of man’s best friend through bravery, support or companionship".[6][7][8] The dog was also awarded The Braveheart Honour in the ceremony of The British Animal Honours in April 2013 (Haatchi the dog).

References

  1. ↑ "Schwartz Jampel syndrome type 1". National Center for Advancing Translational Sciences. Retrieved 20 February 2014.
  2. ↑ Mallineni, Sreekanth K.; Yiu, Cynthia K. Y.; King, Nigel M. (June 2012). "Schwartz-Jampel syndrome: a review of the literature and case report". Special Care in Dentistry. 32 (3): 105–111. doi:10.1111/j.1754-4505.2012.00249.x.
  3. ↑ Stum, M; Davoine, CS; Fontaine, B; Nicole, S (Oct 2005). "Schwartz-Jampel syndrome and perlecan deficiency". Acta Myologica. 24 (2): 89–92. PMID 16550923.
  4. ↑ Ault, Jennifer (2012-02-01). "Schwartz-Jampel Syndrome". Medscape.
  5. ↑ Schwartz, O; Jampel, R. S. (1962). "Congenital blepharophimosis associated with a unique generalized myopathy". Archives of Ophthalmology. 68: 52–7. PMID 13909723. doi:10.1001/archopht.1962.00960030056011.
  6. ↑ Owen and Haatchi win Friends for Life at Crufts 2013, Crufts.org, 10 March 2013
  7. ↑ Crufts bravery award win for three-legged dog Haatchi, BBC News, 11 March 2013
  8. ↑ Three-Legged Dog, Haatchi, Wins 'Friends For Life' Crufts Award For 7-Year-Old Owner, Owen, Huffingtonpost, 10 March 2013
This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.