Posted on: 2 May 2023, source: MSMDS community
Multisystemic Smooth Muscle Dysfunction Syndrome (MSMDS) is an ultra rare disease caused by a mutation in the gene ACTA2 that results in a malfunction of the smooth muscle cells in the whole body. Fixed and congenital dilated pupils, patent ductus arteriosus/aorto pulmonary window and other complications related to the bladder, lungs and guts, are the common manifestations of this mutation with only 60 diagnosed people in the world, most of them children. Join the 2023 MSMDS Conference taking place May 5-7 in Boston and online.