Smooth muscle dysfunction syndrome (SMDS) is caused by mutations in the gene ACTA2 that alter arginine 179.
In 2010 this condition was first described and the genetic cause was identified by Dr. Dianna Milewicz at the University of Texas Health Science Center at Houston (UTHealth).
In 2018 Dr. Milewicz published the first and only management recommendation for patients with SMDS. Download a copy of this paper and share it with your/your child’s clinicians.
Research on this condition is ongoing. All individuals with this condition are encouraged to join the registry at UTHealth.