Duchenne muscular dystrophy (DMD)

"According to statistics, MD affects boys with a frequency of 1 in 5,000 newborns," said Dmitry Vlodavets, head of the Russian Children's Neuromuscular Center, senior researcher at the Department of Neuropsychiatry and Epileptology at the Academician Yu.E. Veltishchev. - As a rule, the disease manifests itself at the age of 4-5 years, when the child's gait is disturbed. He begins to experience difficulties when climbing from the floor or along the steps, he begins to form restrictions on mobility in the joints. By the age of 8-10, the child is in a wheelchair. The lack of the ability to walk leads to the development of scoliosis. In addition, cardiomyopathy develops, the heart and lungs are affected, which together leads to death. The average age of life of the patient today is 20-25 years. "

Thanks to the existing therapy for 2023, DMD can be controlled only in a part of patients, providing them not only with a higher quality of life, but also increasing its duration by about 10 years. "Unfortunately, these drugs work in specific mutations and can close no more than 30% of patients. The remaining 70%, alas, continue to remain without treatment, "added Dmitry Vlodavets.

Nevertheless, modern medicine continues to develop actively. In 2023, a unique gene replacement therapy for DMD appeared in the world, which can correct the breakdown of the corresponding gene in the child's body, giving him the opportunity to live a full life.

"A gene replacement drug is a very good prospect," said Sergey Kutsev, MD, professor, academician of the Russian Academy of Sciences, director of the Medical Genetic Scientific Center named after Academician N.P. Bochkova, chief freelance specialist of the Ministry of Health of Russia in medical genetics. - Published results of clinical studies suggest that the drug is most effective for children aged 4-5 years. According to our estimates, with its help it would be possible to wrest from the clutches of this severe disease about 150 boys in our country. "

According to experts, at the end of 2023, an analysis for a specific enzyme creatine phosphokinase (CPK) is enough to diagnose DMD. If its level is seriously increased, then the patient is referred for molecular genetic research. Analysis for KFK should eventually become mandatory for boys in early childhood. The experience of early detection of DMD will allow timely prescription of genetic therapy and save the lives of several hundred small patients.

2025: Muscular dystrophy started being treated with gene therapy, but it killed three people

The US Food and Drug Administration has suspended clinical trials of experimental gene therapy for the treatment of cingulate muscular dystrophy and temporarily banned the supply of Elevidis after recording the deaths of three patients during the studies. Sarepta Therapeutics voluntarily stopped all deliveries of the drug to the United States to clarify the circumstances of the incidents. This became known in July 2025. Read more here