Introduction
Duchenne muscular dystrophy, named after the neurologist who first described it, Guillaume Benjamin Amand Duchenne in the 1800, is a common type of muscular dystrophy among children, in which the muscle becomes weak and degenerates progressively. Prior to 1986, there was very little information before MDA-supported researchers succeeded in the identification of the particular gene on the X-chromosome that after mutation led to the disease (MDA, 2016). The gene was identified and named as dystrophin. Dystrophin is a protein that aids in keeping the muscles together.
Duchenne muscular dystrophy is heritable as an X-linked recessive gene and is passed by the mother who is often referred to as a carrier. The disease majorly affects …show more content…
The mutations in the Duchenne muscle dystrophy gene leads to an unstable dystrophin protein that has been prematurely truncated. In most patients, the mutations are deletions in the genes.
Signs and symptoms
The onset of the symptoms begins at childhood. At the age of three, the child experiences muscle weakness of the hips, shoulders, pelvic area and the skeletal muscles of the arms, legs and trunk. The children often have delayed or an abnormal gait. The affected children will have problems in movement such as running and they often fall. The proximal weakness progresses to upper extremities, then distal lower and finally upper limbs. The patients also experience calf hypertrophy. The heart and respiratory muscles also get affected by puberty (MDA, 2016). The cardiac disease is made up of dilated cardiomyopathy caused by cardiac fibrosis, and rhythm and conduction disturbances. All patients experience chronic respiratory insufficiency due to restrictive lung disease. The patients may also stop walking during teenage and die by the age of twenty due to cardiorespiratory complications (Sussman, 2002). Some patients also experience intellectual disability with which severity is not directly proportional to the muscle