Нервно-мышечные болезни (Jun 2023)
Consensus concept of modern effective therapy for Duchenne muscular dystrophy
- T. A. Gremyakova,
- S. B. Artemyeva,
- E. N. Baybarina,
- N. D. Vashakmadze,
- V. I. Guzeva,
- E. V. Gusakova,
- L. M. Kuzenkova,
- A. E. Lavrova,
- O. A. Lvova,
- S. V. Mikhaylova,
- L. P. Nazarenko,
- S. S. Nikitin,
- A. V. Polyakov,
- E. L. Dadali,
- A. G. Rumyantsev,
- G. E. Sakbaeva,
- V. M. Suslov,
- O. I. Gremyakova,
- A. A. Stepanov,
- N. I. Shakhovskaya
Affiliations
- T. A. Gremyakova
- Charitable Foundation “Gordey”; Central Clinical Hospital with a Polyclinic of the President Administration
- S. B. Artemyeva
- Yu. E. Veltishchev Research Clinical Institute of Pediatrics
- E. N. Baybarina
- V. I. Kulakov Scientific Center for Obstetrics, Gynecology and Perinatology
- N. D. Vashakmadze
- Central Clinical Hospital of the Russian Academy of Sciences
- V. I. Guzeva
- Saint-Petersburg State Pediatric Medical University
- E. V. Gusakova
- Central State Medical Academy of the President Administration
- L. M. Kuzenkova
- National Medical Research Center for Children’s Health
- A. E. Lavrova
- Volga Research Medical University, Institute of Pediatrics University Clinic
- O. A. Lvova
- Children’s City Hospital No. 9; Ural State University named after B. N. Yeltsin
- S. V. Mikhaylova
- Russian Children’s Clinical Hospital
- L. P. Nazarenko
- Research Institute of Medical Genetics, Tomsk National Research Medical Center
- S. S. Nikitin
- N. P. Bochkov Medical Genetic Research Center
- A. V. Polyakov
- N. P. Bochkov Medical Genetic Research Center
- E. L. Dadali
- N. P. Bochkov Medical Genetic Research Center
- A. G. Rumyantsev
- N. I. Pirogov Russian National Research Medical University of the Ministry of Health of Russia
- G. E. Sakbaeva
- Central Clinical Hospital with a Polyclinic of the President Administration
- V. M. Suslov
- Saint-Petersburg State Pediatric Medical University
- O. I. Gremyakova
- Charitable Foundation “Gordey”
- A. A. Stepanov
- Central Clinical Hospital with a Polyclinic of the President Administration
- N. I. Shakhovskaya
- Psycho-neurological Hospital for Children with CNS Lesions with Mental Disorders
- DOI
- https://doi.org/10.17650/2222-8721-2023-13-2-10-19
- Journal volume & issue
-
Vol. 13,
no. 2
pp. 10 – 19
Abstract
Duchenne muscular dystrophy is a genetic orphan neuromuscular disease caused by a mutation in the DMD gene encoding the protein dystrophin. As a result of developing and progressive muscle damage and atrophy, children lose the ability to walk, develop respiratory and cardiac disorders. The core elements of good care standards are early diagnosis, prevention and treatment of osteoporosis, daily physical therapy, regular rehabilitation, glucocorticosteroids, and control of heart and lung function. The clinical effect of new targeted pathogenetic therapies for Duchenne muscular dystrophy, restoring synthesis of full or truncated dystrophin, depend on their appropriate combination with existing standards of care.
Keywords
- duchenne muscular dystrophy
- recommendations
- dystrophin
- glucocorticosteroids
- vitamin d
- physical therapy
- gene therapy
