Imagine you are 13 and are not selected in your school football team as you cannot stand for more than 15 minutes. Even worse, a decade later you are wheelchair bound and are unable to stand for even 15 seconds. A dreadful dream isn’t it? This is what the life of a child suffering from Duchenne muscular dystrophy (DMD) looks like. DMD is a neuromuscular disorder leading to progressive loss of muscle mass and strength. The chances of boys being affected with DMD is usually much higher than girls and it could be fatal affecting the life expectancy of the patients. Patients usually do not live beyond their late 20s or 30s although some rare cases of survival up to 50s are also reported. It is a hereditary condition due to a defect in one of the genes involved in muscle repair and building called Dystrophin. As a result, the muscles become fragile and are very prone to damage. This leads to difficulty performing normal day to day activities such as walking, running, climbing stairs or lifting objects. The signs of the disease could start appearing as early as the initial 5 years. Such children are usually late walkers and have some degree of learning disability. They also have enlarged calf muscles and tend to fall frequently. Gradually, DMD affects the muscles of the heart as well as leading to cardiovascular problems. There is also development of respiratory conditions and weakening of lungs causing difficulty in breathing. Although patients do not experience any pain since it’s not directly involved with the nerves, there may be some muscle cramping. The list of complications is unending. Family history can be a useful determinant for diagnosis of the disease. The doctors usually check for serum levels of creatine kinase, an enzyme released from damaged muscles. Confirmation is usually done with genetic testing or muscle biopsy. There is currently no cure for this condition and the children are administered corticosteroids to improve quality of life and reduce symptoms of the disease. Medication for muscular cramping or heart conditions can be given to reduce the burden on the muscles. Physical therapy too is recommended to improve muscle tone and strength.
Is a cure for DMD coming soon?
Current research is focusing on 2 new areas for treatment of DMD – Gene therapy and stem cells. Gene therapy involves delivering a copy of the functional Dystrophin gene to replace the damaged gene copy. But this approach has challenges since the large size of the gene and the presence of muscles throughout body will require high gene load to be delivered. The second approach of using stem cells is more popular. Stem cells are present everywhere in our body and they get activated in response to any injury. Muscles to have a pool of stem cells that helps in repair and regeneration of muscles at the time of damage. It is believed by researchers that this pool of stem cells gets depleted in patients of DMD. Transplanting stem cells could be an efficient way of accelerating the repair process. Advancells has successfully treated DMD patients and restored muscle coordination and balance. Patients feel more confident in performing day to day activities with higher levels of confidence.