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Journal of Pediatric Neurology 2006; 04(02): 135-137
DOI: 10.1055/s-0035-1557309
Case Report
Georg Thieme Verlag KG Stuttgart – New York

A case of Schwartz-Jampel syndrome

Natwar Sharma
a   Kanchi Kamakoti CHILDS Trust Hospital, Chennai, India
,
Venkataraman Viswanathan
a   Kanchi Kamakoti CHILDS Trust Hospital, Chennai, India
,
Kalpana Gowrishankar
a   Kanchi Kamakoti CHILDS Trust Hospital, Chennai, India
› Author Affiliations
Subject Editor:
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Publication History

06 January 2005

05 June 2005

Publication Date:
29 July 2015 (online)

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Abstract

Schwartz-Jampel syndrome, also known as chondrodystrophica myotonia or myotonic myopathy is a rare, autosomal recessive disorder resulting from a defect in chromosome 1p36.1. Around 50 cases have been reported in literature. We present a 3 years old female with Schwartz-Jampel syndrome to highlight the benign course of this disease in some children.

Keywords

Schwartz-Jampel syndrome - chondrodystrophic myotonia - myotonic myopathy