DUCHENNE Muscular Dystrophy is one of the most common fatal genetic disorders to affect children around the world. Approximately one in every 3,500 boys worldwide is afflicted with Duchenne Muscular Dystrophy with 20,000 new cases reported each year in the developed world.
It is a devastating and currently incurable muscle-wasting disease, associated with specific inborn errors in the gene that codes for dystrophin, a protein that plays a key structural role in muscle fibre function. Symptoms usually appear in male children before the age of five. Progressive muscle weakness of the legs and pelvis eventually spreads to the arms, neck, and other areas. By age 10, braces may be required for walking, and most patients are confined to a wheelchair by age 12.
Eventually, this progresses to complete paralysis and increasing difficulty in breathing, requiring ventilation. The condition is terminal, and death usually occurs before the age of 30.
The outpatient cost of care for a non-ambulatory DMD boy is among the highest of any disease. There is currently no cure for DMD, but for the first time ever, there are promising therapies in or moving into clinical development.