title: Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): a case report.
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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  We discuss the multi-disciplinary management of Schwartz-Jampel syndrome that will facilitate optimal care and timely intervention of patients with this disorder.
authors.affiliation: Human Genetics & Integrative Medicine Section, LG, NIA, National Institutes of Health, Baltimore, MD, USA. honi@grc.nia.nih.gov
authors.forename: Nicola C
authors.initials: NC
authors.lastname: Ho
authors.forename: Stacey
authors.initials: S
authors.lastname: Sandusky
authors.forename: Victor
authors.initials: V
authors.lastname: Madike
authors.forename: Clair A
authors.initials: CA
authors.lastname: Francomano
authors.forename: Marinos C
authors.initials: MC
authors.lastname: Dalakas
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D000483:Alleles; D017398:Alternative Splicing; D002220:Carbamazepine / Q000627:therapeutic use; D002648:Child; D004252:DNA Mutational Analysis; D019812:Heparan Sulfate Proteoglycans / Q000172:deficiency / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D026741:Physical Therapy Modalities; D044465:White People
chemical_list: D019812:Heparan Sulfate Proteoglycans; C071927:perlecan; D002220:Carbamazepine