Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): a case report
1 Human Genetics & Integrative Medicine Section, LG, NIA, National Institutes of Health, Baltimore, MD, USA
2 Department of Pediatrics, Johns Hopkins Medical Institutions, Baltimore, MD, USA
3 Neuromuscular Diseases Section, NINDS, National Institutes of Health, Bethesda, MD, USA
BMC Neurology 2003, 3:3 doi:10.1186/1471-2377-3-3Published: 2 July 2003
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.
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.
We discuss the multi-disciplinary management of Schwartz-Jampel syndrome that will facilitate optimal care and timely intervention of patients with this disorder.