The Incidence Rate of DMD Disease in Our Country Can Be Reduced

Speaking on the occasion of 7 September World Duchenne Awareness Day, Prof. Dr. Haluk Topaloğlu, Faculty Member of the Department of Child Neurology, Department of Pediatrics, Yeditepe University School of Medicine, shared important information about Duchenne muscular dystrophy (DMD). Noting that the disease, which occurs only in boys, causes difficulties with walking, running and speech in early periods, Prof. Dr. Topaloğlu emphasized that increased awareness could reduce the prevalence of the condition in our country.

Prof. Dr. Haluk Topaloğlu, providing information that DMD is a progressive muscle disease seen in boys, shared detailed information about the symptoms, causes and treatment of the disease.

Prof. Dr. Topaloğlu explained the causes of DMD, which can be seen in every society regardless of social environment, education level or geography, as follows:

"The gene that causes the disease is located on the X chromosome. This gene causes disease by affecting only males, while females become carriers. Approximately half of boys with DMD become ill due to transmission of this gene from their mothers, who have a break related to this disease on the X chromosome. In the other half, this genetic break occurs only in the child and the disease develops. In these patients, neither the mother nor the father are carriers. Besides this, there is also Becker MD (BMD), a milder form of DMD."

PROF. DR. TOPALOĞLU: DMD CAN BE SEEN IN ALL SEGMENTS OF SOCIETY

Noting that DMD can be seen in all segments of society because it is a genetic disease, Prof. Dr. Topaloğlu stated: "Social environment, education level or geography have no effect on the development of this disease. DMD is seen in approximately one in 4,600-5,000 boys. Rarely, girls may have severe symptoms, but generally they do not experience difficulty related to the disease and often it goes unnoticed. Nevertheless, it is beneficial for mothers who are DMD carriers, especially from the age of 40, to have check-ups once a year."

WHAT SYMPTOMS DOES DMD CAUSE?

Prof. Dr. Topaloğlu, providing explanations about the symptoms of DMD, said the following:

"Almost all boys with DMD start walking late. While normally walking is expected by 12-15 months, they may begin walking at 18 months or even later, but they will eventually manage to walk. These children have difficulty climbing stairs and fall behind their peers when running. Besides physical effects, approximately half of children with DMD show delayed speech."

Providing information about other conditions that DMD can cause, Prof. Dr. Topaloğlu stated: "Learning difficulties and attention deficit may develop in children with DMD. Additionally, as they age, heart and respiratory involvement problems can occur. In such cases, approaches such as using medications that protect heart tissue and performing respiratory exercises are essential. To protect bone health, they need adequate calcium and vitamin D support, and to protect tissues and organs, balanced nutrition and physical activity are important. We want early detection of the condition and support for these patients and their families from everyone, including school, teachers, social circles and relatives."

IS IT POSSIBLE TO PREVENT DMD?

Noting that DMD appears in half of boys with the disease without a family history, Prof. Dr. Topaloğlu made important statements on the subject:

"In Turkey, 120-130 boys are born with this disease each year, but with awareness programs it is possible to reduce this number to 55-60. To provide more detailed information on the subject; women with DMD in only one son are defined as 'possible' carriers, if this disease is seen in both sons, they are 'confirmed carriers', and if seen in one son and in their own brothers (uncles) or brothers, they receive the status of 'definite carrier'. In this regard, every mother with DMD in her son must have a DNA test. If the result is positive, then a broad family screening is needed, starting with her sisters, if any, and continuing to all women in her mother's family. In some cases, the mother may only be a carrier, but we may not be able to see this from the blood taken. When acting with this awareness, if a carrier mother receives a diagnosis before pregnancy, it is possible for her to give birth to a healthy baby."

EARLY DIAGNOSIS IS POSSIBLE!

Emphasizing the importance of early diagnosis in DMD, Prof. Dr. Topaloğlu said: "Early diagnosis significantly affects the lives of patients. This allows starting treatment early and making important adjustments in children's social activities and nutrition. Over the years, we see that children of families in close contact with healthcare personnel can reach a healthier condition. However, of course the most important thing is identifying carrier mothers. This prevents children from being born with this disease."

PROF. DR. TOPALOĞLU: IMPORTANT ADVANCES HAVE BEEN MADE IN DMD TREATMENT

Noting that there is currently no definitive treatment for DMD, Prof. Dr. Topaloğlu noted that certain medications, particularly steroids, are effective and explained scientific developments in treatment as follows:

"Major advances have been made in gene therapy. I can say that the main treatments will be 'personalized,' that is, based on genetic results. Additionally, exon therapies are at a similarly exciting stage. It is important that scientific data on this subject, clinical research results and articles published in reputable scientific journals are shared with health authorities and also discussed in scientific committees."