multisystemic smooth muscle dysfunction syndrome

multisystemic smooth muscle dysfunction syndrome

A condition characterised by dysfunction of smooth muscle cells throughout the body, leading to aortic and cerebrovascular disease, fixed dilated pupils, hypotonic bladder, malrotation, hypoperistalsis of the GI tract and pulmonary hypertension.
Molecular pathology
MSMDYS is caused by a mutation in ACTA2, located on chromosome 10q23.3.