A project to detect neuromuscular diseases in children was launched in St. Petersburg

About 25,000 boys aged 12-14 months in St. Petersburg will be examined as part of the country's first selective screening for Duchenne and Becker muscular dystrophies - the most serious diseases that significantly reduce the quality of life and shorten its duration. Early detection will make it possible to start treatment in time and at least improve the quality of life. It is assumed that the experience of the Northern Capital will be adopted by all other regions of Russia.

Screening has already begun. So far in three districts of the city - Frunzensky, Pushkinsky and part of Kalininsky. Next year they plan to connect all children's polyclinics of the city.

- This project of selective screening, in the course of which not only diagnostic tasks are set, but also research tasks, is the first not only in Russia, but also in the world. 25 thousand is a reasonable number. Last year, 50 thousand children were born in St. Petersburg, and half of them were male," emphasized Svetlana Karimova, president of the national association "Genetics", a member of the State Duma Expert Council on health care for rare (orphan) diseases.

Screening for the mentioned muscular dystrophies is not included in the program of expanded neonatal screening of newborns for 36 hereditary diseases, launched throughout Russia this year. So there is no duplication. These are different screenings.

The majority of myodystrophy patients are boys. Duchenne myodystrophy occurs on average in one in 3500 newborn boys, Becker's myodystrophy - in one in 20 thousand. The first disease usually begins in kindergarten age, the second - later, at the age of five to ten years, and is characterized by a less severe course. Both are characterized by muscle degeneration and progressive muscle weakness. As a result, children who looked quite healthy at birth may become wheelchair-bound by the time they reach adolescence. The disease eventually affects the muscles of the heart and respiratory systems. So early demise is more the norm. The tragedy is also that these children are often those with fully preserved intelligence, which means they are aware of what is happening to them. Despite the physical severity of the disease, they are able to finish school and study in higher education.

Girls also suffer from myodystrophy, but it is much less common. But in the future, it is expected to examine also little members of the fair sex.

Now in St. Petersburg live 86 people suffering from Duchenne-Becker myodystrophy.

The screening procedure itself is simple: it is not necessary to take a separate test (it is a blood test). According to the law, children at the age of one year need to undergo a dispensary in the polyclinic, including a blood test. It will just be "one test tube more". Of course, with the consent of parents. The analysis will be done on the enzyme creatine phosphokinase (biochemical marker of myodystrophy). If the values are elevated, the child will be sent to genetic counselors to find out why. Myodystrophies are genetically determined diseases. Mutations of a certain gene responsible for the synthesis of protein dystrophin, and lead to muscle damage. But there may be other reasons for the increase in the index, so you should not panic just because of the alarming result of the analysis. And it should be remembered: now, and in Russia, among others, there is already a therapy to alleviate the condition of a child with myodystrophy.

- When a mother and child come for a checkup, the doctor will definitely tell them about screening and why it is carried out. We have prepared explanatory leaflets, including information on how to properly prepare for the test," explained Anna Atsapkina, deputy head of the screening project.

It is important that in case of confirmation of the disease the family will be able to take into account the factor of genetic breakage when planning the next pregnancy and seek help from specialists in assisted reproductive technologies to exclude the birth of another child with the same pathology. In other words, there will be no situation when sick children are born one after another in a family that had no relatives with myodystrophy.

The project is designed for a year and a half. The results will be analyzed, the project will be submitted to the Ministry of Health, so that then the screening will be introduced into the system of compulsory medical insurance. Then it will operate throughout the country.

And at the first stage, by the end of this year, it is planned to examine about three thousand little boys from St. Petersburg.