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NIH GARD Information: Multisystemic smooth muscle dysfunction syndrome

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This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).

Synonyms

  • Congenital mydriasis, patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy

Overview

Multisystemic smooth muscle dysfunction syndrome is a disease in which the activity of smooth muscle throughout the body is impaired. This leads to widespread problems including blood vessel abnormalities, a decreased response of the pupils to light, a weak bladder, and weakened contractions of the muscles used for the digestion of food (hypoperistalsis). A certain  mutation in the ACTA2 gene has been shown to cause this condition in some individuals.[9881][9882]

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