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

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

Research output: Contribution to journalArticlepeer-review

Abstract

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 findings and the management of an 8-year-old boy with this disorder. The molecular findings confirm that the patient is a compound heterozygote with a different splicing mutation in each Perlecan allele. This resulted in a significant reduction in the production of the encoded normal protein. Conclusion: We discuss the multi-disciplinary management of Schwartz-Jampel syndrome that will facilitate optimal care and timely intervention of patients with this disorder.

Original languageEnglish (US)
Article number3
JournalBMC neurology
Volume3
DOIs
StatePublished - Jul 2 2003
Externally publishedYes

ASJC Scopus subject areas

  • Clinical Neurology

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