Muscular dystrophy Duchenne

The Duchenne muscular dystrophy (DMD) is defined as a disease of the musculature that is already apparent in childhood. Affected are skeletal, cardiac musculature and smooth muscles.

Especially men suffer from the disease because it is inherited as an X-linked recessive trait. Women usually remain asymptomatic. A mutation causes dystrophin to be absent in the muscle cell.

In boys in infancy already shows a delayed motor development. Racing, jumping and climbing stairs become increasingly difficult. Also Gowers' sign occurs. Characteristic of the disease is the pseudohypertrophy of the calves.

In the course of the disease, the muscle weakness from the pelvic girdle muscles on the muscles in the arms and torso over. This causes symptoms such as respiratory problems, scoliosis, or Scapula Alata. The heart can be affected as well.