Identified Risk Factors for Duchenne Muscular Dystrophy

Getting to know the condition and its possible outcomes is key for researchers to find ways to treat it. More knowledge equals more awareness.

This severe form of muscular dystrophy is a genetic defect that usually affects young boys; making muscles weaker and less flexible over time, this disease usually begins early during childhood.

So far, no cure for this condition has been found. Most people affected by the condition end up needing a wheelchair to get around and can also develop conditions such as lung problems and even heart disease.

Nevertheless, studies and research for Duchenne muscular dystrophy never stop. The latest study from UT Southwestern, a medical center based in Dallas, TX, suggests that identifying those patients with certain risk factors who require to be treated more aggressively can be very helpful to help them live longer with the condition.

The senior author of this study posted in the Journal of the American Heart Association, Dr. Pradeep Mammen says that it sets the base for future investigations, being the first one to predict patients with poor outcomes caused by Duchenne muscular dystrophy.

Relevant findings unveiled by the study

During the research, investigators found out about 3 different traits that were common among people with Duchenne muscular dystrophy dying at an earlier age than others.

• Those with poor outcomes were demonstrated to have poorer lung function, having highest pressure during inhalation.
• Most people dying early tend to be underweight. Body mass index average for those who survived the study was of 25.8, while those who were not able to survive the time period of the test had an average body mass index of 17.3.
• According to blood tests, people dying at a younger age were found to have higher levels of proteins in the blood, which is an indicator of a damaged or weakened heart.

Moreover, these “poor outcomers” were found to have liver damage, unveiled by lower levels of an enzyme found in the blood.

Aggressive treatment after finding signs of a poor outcome

Dr. Mammen, who is also the director of UT Southwestern’s Neuromuscular Cardiomyopathy Clinic says that with early intervention on treatments for those people affected in a heavy way by Duchenne, lives may be extended significantly.

It was also highlighted that in an earlier study, researchers were able to spot that only 50% of adult patients suffering from cardiomyopathy took medication to treat heart failure. The same researchers concluded that the addition of beta blockers and mineralocorticoid antagonists could be quite helpful when looking to prevent decline in heart function. This kind of treatment can ultimately postpone death, usually implanting a defibrillator that normalizes irregular heartbeat.

Additionally to this, the study says that a cardiac MRI is more sensitive and accurate at the time of evaluating the severity of a problem present in the heart when it comes to patients with Duchenne muscular dystrophy. This is contrary to the common belief of using echocardiography as the method to diagnose these problems.