This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
STAC3 Disorder is a genetic condition that affects the muscles and skeleton. The main features are muscle weakness present at birth, club foot, fixed joints (joint contractures), and curvature of the spine. The symptoms of this condition vary. The most severe complications can include feeding and breathing difficulties. Many people with this condition are at risk to have complications under general anesthesia (malignant hyperthermia). Muscle weakness may get slowly worse over time or stay the same. Most people with STAC3 disorders are shorter than average and have normal intelligence. This condition is caused by genetic alterations in the STAC3 gene and is inherited in an autosomal recessive pattern. STAC3 disorder is diagnosed based on the symptoms and confirmed by genetic testing. Treatment is based on managing the symptoms.
For more information, visit GARD.