Schwartz–Jampel syndrome

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]

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 : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases 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. doi:10.1001/archopht.1962.00960030056011. PMID 13909723.
  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