On World Duchenne Awareness Day, experts made warnings to raise awareness among families. Emphasizing that Duchenne Muscular Dystrophy (DMD) is a progressive muscle disease, Child Neurology Specialist Prof. Dr. Yasemin Topçu said, “DMD should be investigated first in all boys with muscle weakness and developmental problems.”
Child Neurology Specialist Prof. Dr. Yasemin Topçu from Medipol Health Group explained the initial stage and developmental processes of the disease on World Duchenne Awareness Day. Stating that Duchenne Muscular Dystrophy, or DMD, is a genetically inherited and progressive muscle disease, Prof. Dr. Topçu said, “The condition that causes the disease is the inability to produce the protein called dystrophin in the muscle structure as a result of a genetic problem. The muscle structure becomes sensitive and the muscle gradually begins to break down. Thus, muscle weakness occurs in children,” he said.
“Delay in walking, frequent falls, rapid fatigue”
Underlining that the main complaint of DMD is weakness and fatigue, Prof. Dr. Topçu said, “In addition, children may have complaints of delay in sitting without support, delay in walking, tiptoe walking and frequent falls. This disease can also be understood due to the presence of signs of impaired liver function in blood tests performed without any symptoms.”
Families should be careful
Stating that the disease is progressive, Prof. Dr. Topçu said, “The disease affects many systems. The faulty protein is also present in the heart and brain. Over time, problems may arise in the heart and brain. Children may have learning problems in the future and it also triggers course failure. The disease, which has many types, is usually seen in boys. DMD should be investigated first in all boys with muscle weakness and developmental problems.”
Studies for treatment continue
Underlining that there is no definitive treatment for the disease, Prof. Dr. Topçu said, “There is no very useful treatment. However, genetic studies have become more frequent recently. In order to have genetic treatments, some genetic markers are required. Genetic treatment cannot be applied to every patient. A treatment method approved in the world as of March 2024 has been developed. There are studies that children over 6 years of age with DMD can be treated. These studies continue to increase every year.”
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