Congenital muscular dystrophy, Ullrich type (CMD-U) is a rare, inherited disorder that affects the muscles and connective tissues. It is characterized by muscle weakness, joint contractures, and a distinctive facial appearance. It is caused by mutations in the COL6A1, COL6A2, or COL6A3 genes, which are responsible for producing the proteins that make up the collagen type VI protein. Symptoms usually appear in infancy or early childhood and can include muscle weakness, joint contractures, and a distinctive facial appearance. Other features may include scoliosis, respiratory problems, and intellectual disability. Treatment is supportive and may include physical therapy, occupational therapy, and orthopedic surgery.