Awareness is Key: What Everyone Should Know About Duchenne Muscular Dystrophy

Duchenne muscular dystrophy is a childhood illness that causes weakness and the deterioration of a patient's muscles. Children would have difficulty doing some activities such as standing up, running, or climbing. Because this is a genetic condition, the disease is inherited from parents who have the gene. While boys are mostly affected, girls can also carry have gene for it. For boys who have this condition, they should be checked by a doctor regularly. In addition, they should go through physiotherapy starting from childhood in order to slow the symptoms of the disease as they come. Treatment and intervention usually begins at the age of 9, but sometimes, depending on the severity of the patient's disease, it can start sooner.

The history of Duchenne muscular dystrophy

Duchenne muscular dystrophy or DMD was discovered by Guillaume Benjamin Amand Duchenne, who was a French neurologist in the 1860's. However, it was only in the 1980.s that the causes of muscle dystrophy were known.

It is known as a genetic neuromuscular condition. Parents of children who have this condition must take it seriously as the disease can progress quickly if left untreated. The muscles that are weakened with Duchenne muscular dystrophy are generally the distal muscles, which are be found in the torso, hips, and shoulders. Therefore, activities like walking are more difficult as compared to the fine movements that involve the use of hands and fingers. 

Although the DMD gene is already present in childbirth, it is asymptomatic at that time. Muscular weakness happens slowly and becomes apparent in the early childhood stage. The signs and symptoms, however, become worse as the child grows. 

Medical research about DMD

According to a study at UT Southwestern, children with DMD can live longer if certain risk factors are identified and treated more aggressively. The 43 participants of this study were observed for 2 years.

Heart failure expert Dr. Pradeep Mammen from UT Southwestern Medical Center is the senior author of the study that first showed the poor outcomes for patients with DMD. The researchers who were part of the study identified the three similar traits of patients who died at an earlier time:

• Being underweight (17. 3 BMI)
• Poor function of the lungs
• Higher amount of protein in the blood which means the heart is either weak or damaged

In some cases of the patients who died, there was also damage in the liver, which was indicated by lower enzyme levels.

Dr. Mammen believes that intervention at the earliest time can prolong the lives of the patients. Another study showed the only 50% of adults who have DMD and cardiomyopathy take medications. Cardiomyopathy is a heart disease that causes the heart to be enlarged, hard or thick. In addition, supplementing medications such as mineralocorticoid antagonists to ACE inhibitors make the heart more functional and lengthen life. Defibrillators are also recommended for patients.

15 years ago, DMD patients almost died before they turned 20 years old. Although now, around 70% of the patients have reached adulthood. This is definitely a major step in research, which makes the future for a cure of muscular dystrophy almost within reach for patients.