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Geneticists have launched a program to identify children with Duchenne muscular dystrophy
Geneticists from the Moscow Medical and Genetic Research Center (MGNC) have launched a nationwide program to search for children with Duchenne muscular dystrophy in order to diagnose the disease earlier. Patients will be able to undergo an examination at the scientific center for the presence of a genetic mutation for free, the press service of the institution reported.
"Geneticists of FBGNU MGNC for the first time launched a nationwide program to search for patients with a "breakdown" in the dystrophin gene leading to MDD/B (Duchenne-Becker muscular dystrophy)," the report says.
The scientific center also clarified that at the moment the disease is diagnosed, as a rule, when the child has reached the age of 5-6 years, but treatment in this case may not give an effective result, since the disease has already begun to progress.
Free diagnosis of the disease
Alexander Polyakov, Head of the DNA Diagnostics Laboratory at the Moscow State Medical Center, noted that the new program is primarily aimed at early detection of patients with Duchenne-Becker muscular dystrophy.
"In recent years, treatment has appeared for some patients, I emphasize – not for everyone, but for patients with a certain type of mutation. In order for it to be successful, it is necessary to establish a diagnosis as early as possible. Our project is to inform all medical and genetic consultations that it is possible to diagnose such patients for free," Polyakov said. He added that in children under the age of 4, the clinical picture is still erased and doctors do not suspect muscular dystrophy.
Children who have been referred by a pediatrician or hepatologist can get free genetic diagnostics at the MGNC. In the center, children whose doctors suspected Duchenne muscular dystrophy will be tested.
Establish interaction
Polyakov explained that the level of development of modern medicine allows geneticists to diagnose muscular dystrophy, like other genetic diseases, at an early stage, but it is also necessary to work with doctors. "We need to establish cooperation with neurologists, pediatricians, hepatologists in all regions of Russia," he said. Polyakov stressed that in order to make the correct diagnosis in a timely manner, patients with elevated liver enzymes and already excluded infectious hepatitis should be referred for consultation to medical and genetic services.
Progressive Duchenne-Becker muscular dystrophy is a severe genetic disease that mainly affects boys. Patients with this disease have atypical gait and posture, it is difficult for them to move. Approximately 300 children with this diagnosis are born in Russia per year. Muscular dystrophy often causes the development of heart failure, which leads to cardiac arrest.
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