Consensus concept of modern effective therapy for Duchenne muscular dystrophy-Reference-Cited by-同舟云学术

Consensus concept of modern effective therapy for Duchenne muscular dystrophy

Published:2023-06-15 Issue:2 Volume:13 Page:10-19
ISSN:2413-0443
Container-title:Neuromuscular Diseases
language:
Short-container-title:Neuromuscular Diseases

Author:

Gremyakova T. A.¹,Artemyeva S. B.²,Baybarina E. N.³,Vashakmadze N. D.⁴,Guzeva V. I.⁵,Gusakova E. V.⁶,Kuzenkova L. M.⁷,Lavrova A. E.⁸,Lvova O. A.⁹,Mikhaylova S. V.¹⁰,Nazarenko L. P.¹¹,Nikitin S. S.¹²,Polyakov A. V.¹²,Dadali E. L.¹²,Rumyantsev A. G.¹³,Sakbaeva G. E.¹⁴,Suslov V. M.⁵,Gremyakova O. I.¹⁵,Stepanov A. A.¹⁴,Shakhovskaya N. I.¹⁶

Affiliation:

1. Charitable Foundation “Gordey”; Central Clinical Hospital with a Polyclinic of the President Administration

2. Yu. E. Veltishchev Research Clinical Institute of Pediatrics

3. V. I. Kulakov Scientific Center for Obstetrics, Gynecology and Perinatology

4. Central Clinical Hospital of the Russian Academy of Sciences

5. Saint-Petersburg State Pediatric Medical University

6. Central State Medical Academy of the President Administration

7. National Medical Research Center for Children’s Health

8. Volga Research Medical University, Institute of Pediatrics University Clinic

9. Children’s City Hospital No. 9; Ural State University named after B. N. Yeltsin

10. Russian Children’s Clinical Hospital

11. Research Institute of Medical Genetics, Tomsk National Research Medical Center

12. N. P. Bochkov Medical Genetic Research Center

13. N. I. Pirogov Russian National Research Medical University of the Ministry of Health of Russia

14. Central Clinical Hospital with a Polyclinic of the President Administration

15. Charitable Foundation “Gordey”

16. Psycho-neurological Hospital for Children with CNS Lesions with Mental Disorders

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.

Publisher

Publishing House ABV Press

Subject

Neurology (clinical),Neurology

Reference57 articles.

1. Ryder S., Leadley R.M., Armstrong N. et al. The burden, epidemiology, costs and treatment for Duchenne muscular dystrophy: an evidence review. Orphanet J Rare Dis 2017;(12):79. DOI: 10.1186/s13023-017-0631-3

2. Birnkrant D.J., Bushby K., Bann C.M., Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. 2018. Lancet Neurol 2018;17(3):251–67. DOI: 10.1016/S1474-4422(18)30024-3

3. Koenig M., Hofman E.P., Bertelson C.J. et al. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and afected individuals. Cell 1987;50:509–17. DOI: 10.1016/0092-8674(87)90504-6

4. Crisafulli S., Sultana J., Fontana A. et al. Global epidemiology of Duchenne muscular dystrophy: an updated systematic review and meta-analysis. Orphanet J Rare Dis 2020;15(1):141. DOI: 10.1186/s13023-020-01430-8

5. Romitti P.A., Da P., Zhu Y. et al. Prevalence of Duchenne and Becker muscular dystrophies in the United States. Pediatrics 2015;135(3):513–21. DOI: 10.1542/peds.2014-2044