Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): a case report
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منابع مشابه
Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): a case report
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 t...
متن کاملClinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome)
Case Report Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome) Nicola C. Ho, M.D., Stacey Sandusky, B.S., Victor Madike, M.S., Clair A. Francomano, M.D., and Marino C. Dalakas, M.D. 3 Human Genetics & Integrative Medicine Section, LG, NIA, National Institutes of Health, Baltimore, MD Department of Pediatrics, Johns Hopkins Medical Institutions,...
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Schwartz-Jampel syndrome is a rare autosomal recessive disorder. Joint contractures, generalised myotonia, skeletal anomalies, and facial dysmorphism are common features; malignant hyperthermia is a potentially lethal complication during anaesthesia.
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A rare case of Schwartz-Jampel Syndrome is reported. Its main oral and facial manifestations are highlighted.
متن کاملSchwartz-Jampel syndrome: II. Na+ channel defect causes myotonia.
Skeletal muscle fibers from a patient with Schwartz-Jampel syndrome were studied in vitro. The fibers had normal resting membrane potentials, but their resting [Ca2+]i was elevated. The resting potentials were unstable and spontaneous depolarizations caused twitching in all fibers. Stimulated contractions were characterized by markedly slowed relaxation which was due to electrical after-activit...
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ژورنال
عنوان ژورنال: BMC Neurology
سال: 2003
ISSN: 1471-2377
DOI: 10.1186/1471-2377-3-3