Schwartz-Jampel syndrome (chondrodystrophic myotonia).
نویسندگان
چکیده
منابع مشابه
Schwartz-Jampel syndrome (chondrodystrophic myotonia).
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.
متن کاملClinico-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,...
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...
متن کاملSchwartz-Jampel syndrome.
This is a report of a very rare case of Schwartz Jampel syndrome, with few unusual findings, in a 13 years girl from Nepal, who concurrently also had superotemporal subluxation of the crystalline lens along with blepharophimosis syndrome.
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1992
ISSN: 1468-6244
DOI: 10.1136/jmg.29.1.58