Schwartz Jampel syndrome is a very rare genetically heterogenous disorder characterized by myotonia, typical facies, growth retardation and osteoarticular changes. Prevelance of this syndrome is <1 in 100000. 150 cases have been reported in medical literature so far. We hereby report this rare syndrome in neurology.
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Expanding genetic and clinical aspects of Schwartz-Jampel syndrome: A report of two cases with literature review.
Mol Genet Metab Rep
September 2024
Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Article Synopsis
- Schwartz-Jampel syndrome (SJS) is a rare genetic disorder causing muscle stiffness and bone development issues due to mutations in the perlecan gene.
- A study focused on two sisters from consanguineous Iranian parents revealed both typical SJS symptoms, such as myotonia and a mask-like face, as well as an unusual symptom of gastrointestinal bleeding.
- The research not only provided insights into genetic variants associated with SJS but also explored the connection between perlecan dysfunction and gastrointestinal bleeding, contributing to a broader understanding of the syndrome's clinical manifestations.
Peripheral regional anaesthesia in an adult with Schwartz-Jampel syndrome.
Anaesth Rep
June 2024
Department of Anaesthesiology, Intensive Care and Pain Therapy Balgrist University Hospital, University of Zurich Zurich Switzerland.
A novel termination site in a case of Stüve-Wiedemann syndrome: case report and review of literature.
Front Pediatr
April 2024
Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, United States.
Stüve-Wiedemann syndrome (SWS) is a rare autosomal recessive disorder that is characterized by bowing of long bones, dysautonomia, temperature dysregulation, swallowing and feeding difficulties, and frequent respiratory infections. Respiratory distress and hyperthermic events are the leading causes of early neonatal death, and most patients are not expected to survive past infancy. Here, we report on the survival of a 5-year-old male with SWS, discussing his case presentation, providing a brief clinical course, and discussing the outcome.
View Article and Find Full Text PDFDyssegmental dysplasia Rolland-Desbuquois type is caused by pathogenic variants in HSPG2 - a founder haplotype shared in five patients.
J Hum Genet
June 2024
Division of Neurogenetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Article Synopsis
- * Schwartz-Jampel syndrome (SJS), also caused by HSPG2 mutations, is related to DDSH, with 44 variants reported in SJS and 8 in DDSH.
- * Recent findings show that five DDRD patients had four pathogenic variants in HSPG2, highlighting a common genetic background, connecting SJS, DDRD, and DDSH as allelic disorders.
Successful Treatment of Schwartz-Jampel Syndrome with Botulinum Toxin Type A.
Dermatol Ther (Heidelb)
February 2024
Department of Dermatology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Schwartz-Jampel syndrome (SJS) is a rare autosomal recessive disorder characterized by typical facial dysmorphism, generalized muscle stiffness, joint contracture, and skeletal abnormalities. This condition is caused by mutations in the heparan sulfate proteoglycan 2 (HSPG2) gene, which encodes perlecan, a component of the basement membrane. The management of patients with SJS primarily aims to alleviate symptoms related to muscle stiffness.
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