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Case Reports
. 2015 Apr-Jun;10(2):169-71.
doi: 10.4103/1817-1745.159202.

Schwartz-Jampel syndrome

Sadanandavalli Retnaswami Chandra  1 , Thomas Gregor Issac  2 , N Gayathri  3 , Sumanth Shivaram  1
Affiliations
Case Reports

Schwartz-Jampel syndrome

Sadanandavalli Retnaswami Chandra et al. J Pediatr Neurosci. 2015 Apr-Jun.

Abstract

Schwartz-Jampel syndrome is a very rare congenital myotonic syndrome with typical phenotypic and electrophysiological features. Diagnosis is made by awareness into the typical phenotypic characters.

Keywords: Malignant hyperthermia; Schwartz–Jampel syndrome; myotonia.

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Conflict of interest statement

Conflict of Interest: None declared.

Figures

Figure 1
Figure 1
(a) Fixed facial expression, bushy eyebrows, decreased palpebral fissure, low placed ears, pursed lips, micrognathia with myotonic spasm of the chin muscles, (b) difficulty in opening the jaw completely, (c) mild flexion at the elbow, broad base while standing
Figure 2
Figure 2
X-ray showing normal pelvic bones in spite of pelvis moving en bloc
Figure 3
Figure 3
(a) ongoing spontaneous activity trace with Needle insertion (sweep speed 10 ms per division, sensitivity 200 mcV) - shows reduction in the amplitude, (b) continuous discharges showing slight amplitude variation (sweep speed 10 ms per division, sensitivity 200 mcV) (c) the complex repetitive discharges which are stereotyped (sweep speed 10 ms per division, sensitivity 200 mcV)
See this image and copyright information in PMC

References

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    1. [Last accessed on 2014 Dec 03, 6:00 pm IST]. Available from: http://www.orpha.net/consor4.01/www/cgi-bin/Disease_Search.php?lng=EN an... .
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