Duchenne disease (DMD or Duchene Muscular Dystrophy) is the most common and fatal genetic disorder diagnosed in childhood..Duchenne’s affects boys. One out of every 3500 children has Duchenne’s. These children are born with a genetic defect where the body does not generate an essential protein called dystrophin. With dystrophin protein deficiency, muscle cells are not protected and become fragile and vulnerable. Each muscle contraction as a result of a routine action, causes the destruction and increases mortality of muscle cells in the bodies of children. With continuing muscle damage, proper muscle tissue is replaced by fat tissue, similar to a scar, and correspondingly there is infiltration of inflammatory cells in muscle tissue and muscle destruction is accelerated. By the age of six, the sick child’s muscle mass decreases by approximately 50% compared to a healthy child of this age. By 12 years of age ,children often have to sit in a wheelchair. The disease then accelerates and children die during the second or third decade of life as a result of failure of heart or lung muscles.
Currently, Duchenne Muscular Dystrophy is an incurable disease, which becomes progressively worse and involves great suffering. Treatment with steroid medication may delay the disease but the side effects are problematic. The first ever drug to treat the disease was approved in August 2014 as appropriate for a small part of boys with Duchenne’s suffering from a specific mutation. This revolutionary new drug – Translarna – can teach the body to produce part of the deficient protein and thus extends children’s lives by 5 to 10 years at least. Translarna is a first breakthrough but certainly not the last, and is proof that finding a cure for Duchenne is possible.