Schwartz Jampel syndrome (SJS)
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Schwartz Jampel syndrome (SJS). This is the classical type. It is late infantile or childhood onset. Fully referenced neurology checklist.
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
Locked: subscribe to see this section.
Genetics
Locked: subscribe to see this section.
Dysmorphic features
Locked: subscribe to see this section.
Myotonic features
Locked: subscribe to see this section.
Other neurological features
Locked: subscribe to see this section.
Musculoskeletal features
Locked: subscribe to see this section.
Other features
Locked: subscribe to see this section.
Associations
Locked: subscribe to see this section.
Differential diagnosis
Locked: subscribe to see this section.
Treatment
Locked: subscribe to see this section.
Synonyms
Locked: subscribe to see this section.
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.
- And 10 more. Subscribe to see the full list
