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

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

Publisher
BioMed Central
Publication Date
Jul 02, 2003
Source
PMC
Keywords
Disciplines
  • Biology
  • Medicine
License
Unknown

Abstract

1471-2377-3-3.fm ral ss BioMed CentBMC Neurology Open AcceCase report Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): a case report Nicola C Ho*1,2, Stacey Sandusky1, Victor Madike1, Clair A Francomano1 and Marinos C Dalakas3 Address: 1Human Genetics & Integrative Medicine Section, LG, NIA, National Institutes of Health, Baltimore, MD, USA, 2Department of Pediatrics, Johns Hopkins Medical Institutions, Baltimore, MD, USA and 3Neuromuscular Diseases Section, NINDS, National Institutes of Health, Bethesda, MD, USA Email: Nicola C Ho* - [email protected]; Stacey Sandusky - [email protected]; Victor Madike - [email protected]; Clair A Francomano - [email protected]; Marinos C Dalakas - [email protected] * Corresponding author 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. Background In 1962, Oscar Schwartz and Robert Jampel jointly described a rare autosomal recessive disorder in a pair of siblings. The children had short stature, myotonia with paucity of facial expression, blepharophimosis, pectus carinatum, and contractures. [1] This disorder was also

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