What is Ullrich Congenital Muscular Dystrophy (CMD)?
Ullrich Congenital Muscular Dystrophy (CMD) is a rare genetic disorder characterized by muscle weakness and joint stiffness from birth. It falls under the umbrella of congenital muscular dystrophies, which are a group of disorders that present muscle weakness at birth or shortly thereafter. Ullrich CMD specifically is caused by mutations in the genes encoding collagen VI, including COL6A1, COL6A2, and COL6A3.