This Disease Can Manifest Itself When Children Walk Late

Duchenne Muscular Dystrophy, a muscle disease that occurs in boys, is a problem seen in one out of 3,500-4,000 children. Pointing out that the disease is not sufficiently recognized for this reason, Pediatric Neurology Specialist Prof. Dr. Haluk Aydın Topaloğlu said that walking late in children is a preliminary sign of the disease.

Duchenne Muscular Dystrophy (DMD), which causes progressive muscle destruction and weakness in children, is a disease with the genetic transmission. It develops as a result of the inability of the dystrophin gene, which is responsible for ensuring the integrity of the muscles in our body, to synthesize protein. Yeditepe University Koşuyolu Hospital Pediatric Health and Diseases, Pediatric Neurology Specialist Prof. Dr. Haluk Aydın Topaloğlu said that if the disease is not kept under control, it will progress and significantly reduce the quality of life of the child.

'Boys Walks Late' Opinion Misleads Parents

Expressing the preliminary symptom of the disease as the late walking of the child, Prof. Dr. Haluk Aydın Topaloğlu pointed out that parents should be careful in this regard. “Normally, children walk when they are 13-16 months old. However, children with Duchenne Muscular Dystrophy (DMD) walk later and talk later. The most familiar and striking symptom is that the child lags behind his friends while running and has difficulty climbing stairs. So, these children have problems with their gross motor skills. There is a misconception in society that "boys walk late, talk late". However, regardless of whether it is a boy or a girl, a child should be able to walk by 18 months at the latest. If the child is 18 months old and still not walking, it should be examined. The reason for this may be simply rachitis, as well as kidney, lung, or muscle disease. Neurological examination is required to determine whether Duchenne Muscular Dystrophy (DMD) is the underlying cause, especially in boys.”

Stating that Duchenne Muscular Dystrophy (DMD) has been detected by chance under cold complaints in a few weeks or months old babies recently, Yeditepe University Hospital’s Pediatric Neurology Specialist Prof. Dr. Topaloğlu: “Biochemical tests in these children, it is seen that creatine kinase (CK) enzyme is high. Although such a situation is suspicious, the definitive diagnosis is made by gene testing. Today, diagnostic muscle biopsies should be preferred if the gene test does not yield results. “Genetic testing is very sensitive.”

It Can Occur Without Genetic Transition

1 out of every 3500-4000 boys has Duchenne Muscular Dystrophy (DMD). Dr. Haluk Aydın Topaloğlu gave the following information: “DMD can sometimes be seen without a genetic factor. It is called spontaneous mutation. Although no one in the child's family or lineage has DMD, it can occur for the first time in a child. In such cases, the mother is not a carrier. However, there is a 7-12% chance of gene defects in the mother's eggs. This is called the germ-line mosaic. In addition to the difficulty in walking, 30-40% of children have mental disabilities.”

To Increase Child's Quality of Life...

According to the information given by Prof. Dr. Topaloğlu, there is no known cure for DMD. Children can benefit from low levels of corticosteroid therapy and calcium supplementation. It is also possible to improve the quality of life of the child with some measures to be taken. For this, they can be listed as follows: “Physical therapy can be done 2-3 times a week. The child can swim once a week. However, passive exercises, shoer walks, and cycling can also be beneficial for their age. Again, these children need to follow a balanced diet in order not to gain excess weight. In order to get protein, they need to consume milk and dairy products in abundance and avoid foods such as carbohydrates, sugar, and chocolate that give excessive calories. As with all children, regular sleep is important in children diagnosed with Duchenne Muscular Dystrophy (DMD).”

Gene Therapies Are Promising

Stating that many scientists all over the world, including Turkey, are conducting research for the treatment of genetic muscle diseases, Prof. Dr. Haluk Aydın Topaloğlu overcame the following about the developments related to the treatment. “Exon skipping treatments began before gene therapy. Gene therapy is also in the developmental stage and is promising for the future. It is expected that within the next five years, there will be new genetic treatments for at least 20 genetic diseases. ”

Children Should Socialize

Stating that parents have a great duty to ensure that children with Duchenne Muscular Dystrophy (DMD) should be in a social environment, Yeditepe University Hospital Pediatric Neurology Specialist Prof. Dr. Haluk Aydın Topaloğlu, made the following suggestions to their families on the subject: “Parents should be hopeful for the future. Children should continue to support their daily lives as before. Medications, physiotherapy programs, school, friends, family environment, and social environment should complement each other. Children's socialization is important. It is crucial that they go to school and even study until university if they have the opportunity. On the other hand, schools need to be regulated according to these children. For example, if there is no elevator, care should be taken to ensure that the classrooms are on the ground floor. These kids must have a wheelchair. It is even more beneficial to have one wheelchair at home, preferably one outside (battery-powered). Another important point is that these children must not be compared to others. It should not be forgotten that the course of this disease is different in each child, children should not be compared with each other.