Pediatric Neurology Specialist Prof. Dr. Haluk Aydın Topaloğlu, who said that 80 percent of muscle diseases included in the classification of rare diseases show genetic transmission, drew attention to the fact that one out of every four married couples in our country is a consanguineous marriage, which increases the risk in this sense. 

Although muscle diseases defined as 'muscular dystrophy' are genetically transmitted diseases, their symptoms can occur at different ages. Prof. Dr. Haluk Aydın Topaloğlu, Pediatric Health, and Diseases, Pediatric Neurology Specialist at Yeditepe University Koşuyolu Hospital pointed out the importance of early diagnosis in order to control the complaints caused by diseases and to increase the patient's quality of life, and said that the age of onset is also very important in terms of the course of the disease. 

While the course of diseases that start with birth is more severe throughout life, it may have a milder course if it starts after the age of 20. Prof. Dr. Haluk Aydınoğlu stated that the life expectancy of such patients is prolonged by 15-20 years with good medical care and the protection of the general health of the patient, and continued his words as follows: 
“Having consanguineous marriages in couples, having a family history of muscle disease, little movement of the baby in the mother's womb during pregnancy, or low or excess water of the baby gives us clues as to whether muscle diseases will be seen in the child to be born. However, most muscular dystrophies begin to show symptoms in childhood or adolescence. The child's movements are slow, sluggish, and often little. However, respiratory, or swallowing problems are also observed along with feeding problems.”

It Is More Common in Boys

Stating that sometimes girls can be carriers, Prof. Dr. Haluk Aydın Topaloğlu said, “Duchenne Muscular Dystrophy (DMD), which can be seen in approximately 1 out of every 3.500-4 thousand boys in the world and in our country, is a genetic disease that causes progressive muscle destruction and weakness in children. The preliminary symptom of the disease is that the child walks late. Normally, children walk at the age of 13-14 and maximum of 16 months, but these children walk later and talk later. However, the most common and striking symptoms are falling behind their friends while running and difficulty in climbing stairs.”

Some Symptoms Start in Adolescence

Stating that Becker Muscular Dystrophy (BMD), another muscle disease affecting boys, has similar symptoms to Duchenne Muscular Dystrophy, but has milder symptoms, Prof. Dr. Haluk Aydın Topaloğlu said, “The age of onset of these patients is also higher. The disease occurs during adolescence or later in life.”

Most Common Muscle Disease of Adulthood

 out that Myotonic Muscular Dystrophy is a problem that can occur in both men and women, Prof. Dr. Topaloğlu gave the following information about the disease: “These patients have difficulty in relaxing their muscles after contracting them (for example, loosening their hands after shaking hands). It can affect both men and women, and symptoms usually begin in their 20s. However, in the case of transmission from parent to child, it is observed that the age of onset of the disease gradually decreases. There are two different types of disease within itself. In the severe type, respiratory failure may occur. In the mild type, daily life is not affected much. However, patients often feel tired. Low blood sugar and cataracts are among some of the problems that can be experienced.”

 Myasthenia and SMA

Myasthenia, which is roughly defined as muscle fatigue, arises for two reasons: genetics and the immune system. Saying that the disease originating from the immune system has a rheumatic structure, Prof. Dr. Topaloğlu continued as follows: “The person feels better in the morning, but they feel exhausted in the following hours. Medication treatment of patients in this group is possible. Spinal Muscular Atrophy (SMA), which causes muscle loss and weakness, is an important problem seen in one of every 6.000 newborns in our country. Some newborn babies with SMA die within the first year. Some of them can even walk in the following years, but there is a problem with their walking, they are weak. After a certain period, respiratory problems may occur, and a respirator may be needed. Although it is more effective in babies and children diagnosed in the early period, exon-correcting medication with nusinersen active substance may be useful in selected patients within the scope of SSI reimbursement. Gene therapy will come out as a new treatment method.”

Patient History is Important in Diagnosis

Stating that there is no specific diagnostic algorithm in neuromuscular diseases, Prof. Dr. Topaloğlu said that the diagnosis will be approached with a detailed history and physical examination, but there are many appropriate gene tests that lead to a true diagnosis. Yeditepe University Hospital’s Pediatric Health and Diseases, Pediatric Neurology Specialist Prof. Dr. Haluk Aydın Topaloğlu continued his words as follows: “The most important point here is the questioning of the existence of consanguineous marriage and the presence of similar diseases of other members of the family. Early and accurate diagnosis leads us to search for treatment options. Standard of living, quality of life, physiotherapy, some medications, social environment, and family structure gain importance. Although their number is small, some genetic diseases are treated, and if an early diagnosis is made, it is possible to prevent the birth of similarly sick babies in the family. This is called genetic counseling. There are many experienced geneticists and pediatric neurologists in our country. With the wide laboratory facilities, results are given quickly. Genetic counseling is the only guiding program and a request is sufficient to benefit from it.”

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