Ullrich congenital muscular dystrophy

Ullrich congenital muscular dystrophy is a form of congenital muscular dystrophy with two recognized genetic types. The first type, UCMD1, involves mutations in the genes encoding type VI collagen, COL6A1, COL6A2 and COL6A3, while the second type, UCMD2, stems from mutations in COL12A1, which affects type XII collagen. The condition presents with muscle weakness and difficulty walking, typically becoming apparent between ages five and fifteen, along with a characteristic combination of joint problems: contractures of the proximal joints paired with looseness in the distal joints. Additional features include progressive scoliosis and fatty infiltration of muscle tissue. Unlike many other muscular dystrophies, Ullrich congenital muscular dystrophy notably lacks cardiac complications, and it is distinguished from dystrophin-related muscular dystrophies by affecting connective tissue through collagen gene defects rather than the dystrophin protein. It is named after the German pediatrician Otto Ullrich.