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Article

Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): a case report.

BMC neurology - 2 Jul 2003

Ho Nicola C, Sandusky Stacey, Madike Victor, Francomano Clair A, Dalakas Marinos C

Abstract excerpt

BACKGROUND: Chondrodystrophic myotonia or Schwartz-Jampel syndrome is a rare genetic disorder characterized by myotonia and skeletal dysplasia. It may be progressive in nature. Recently, the gene responsible for Schwartz-Jampel syndrome has been found and the defective protein it encodes leads to abnormal cartilage development and anomalous neuromuscular activity. CASE PRESENTATION: We report the clinical...

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Identifiers

PMID: 12839625
DOI: 10.1186/1471-2377-3-3
PMCID: PMC166146

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