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Schwartz-Jampel syndrome with dominant inheritance
R M Pascuzzi1, R Gratianne, B Azzarelli
1Department of Neurology, Indiana University Medical Center, Indianapolis.
Muscle & Nerve
|December 1, 1990
Summary
Schwartz-Jampel syndrome (SJS), a rare genetic disorder, typically follows autosomal recessive inheritance. This study reports SJS in a father and son, suggesting a potential dominant inheritance pattern for this multisystem disorder.
Area of Science:
- Genetics
- Rare Diseases
- Pediatrics
Background:
- Schwartz-Jampel syndrome (SJS) is a rare congenital multisystem disorder.
- Its pathogenesis is currently unknown.
- SJS is characterized by distinct facial features, skeletal deformities, joint contractures, short stature, muscle hypertrophy, clinical myotonia, and continuous muscle fiber activity.