Schwartz Jampel syndrome (SJS)
Evidence-based neurology checklist on schwartz jampel syndrome (sjs): SJS type I This is the classical type It is late infantile or childhood onset It is caused by mutations in the heparan sulfate proteoglycan 2 (HSPG2) gene The transmission is autosomal recessive and dominant SJS type II Genetics…
SJS type I
- This is the classical type
- It is late infantile or childhood onset
- It is caused by mutations in the heparan sulfate proteoglycan 2 (HSPG2) gene
- The transmission is autosomal recessive and dominant
SJS type II
Genetics
Dysmorphic features
Myotonic features
Other neurological features
Musculoskeletal features
Other features
Associations
Differential diagnosis
Treatment
Synonyms
References
- Viljoen D, Beighton P. Schwartz-Jampel syndrome (chondrodystrophic myotonia). J Med Genet 1992; 29:58-62.
- Berardinelli A, Ginevra OF, Lanzi G. The Schwartz-Jampel syndrome: a minireview. Basic Appl Myol 1997; 7:363-367.
- Ropper AH, Brown RH. Principles of Neurology. Eighth edition. McGraw Hill New York 2005 p1279-1280.
- Chandra SR, Issac TG, Gayathri N, Shivaram S. Schwartz-Jampel syndrome. J Pediatr Neurosci 2015; 10:169-171.
- Lin PY, Hung JH, Hsu CK, Chang YT, Sun YT. A novel pathogenic HSPG2 mutation in Schwartz-Jampel syndrome. Front Neurol 2021; 12:632336.
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