Duchenne Muscular Dystrophy: Modern Approaches in Patient Management-Reference-Cited by-同舟云学术

Duchenne Muscular Dystrophy: Modern Approaches in Patient Management

Published:2023-09-04 Issue:5 Volume:20 Page:427-453
ISSN:2500-3089
Container-title:Pediatric pharmacology
language:
Short-container-title:Pediatr. farmakol.

Author:

Anisimova Inga V.¹^ORCID,Artemyeva Svetlana B.²^ORCID,Belousova Elena D.²^ORCID,Vashakmadze Nato D.³^ORCID,Vlodavets Dmitriy V.²^ORCID,Gremyakova Tatiana A.⁴^ORCID,Groznova Olga S.²^ORCID,Guzeva Valentina I.⁵^ORCID,Gusakova Elena V.⁶^ORCID,Kuzenkova Lyudmila M.⁷^ORCID,Kurenkov Alexey L.⁷^ORCID,Kutsev Sergey I.¹^ORCID,Mikhaylova Svetlana V.⁸^ORCID,Nazarenko Lyudmila P.⁹^ORCID,Nikitin Sergey S.¹^ORCID,Novikov Artem Yu.¹⁰,Podkletnova Tatiana V.⁷^ORCID,Polevichenko Elena V.¹¹^ORCID,Polyakov Alexander V.¹^ORCID,Prokopyev Gennady G.¹²,Rudenko Dmitry I.¹³^ORCID,Repina Svetlana A.¹^ORCID,Romanenko Evgeniia V.¹⁴,Ryabykh Sergey O.¹⁵^ORCID,Sakbaeva Gul’zhan E.⁶^ORCID,Sapego Elena Yu.¹⁶^ORCID,Selimzyanova Liliia R.¹⁷^ORCID,Stepanov Andrey A.⁶^ORCID,Subbotin Dmitry M.¹,Suslov Vasiliy M.⁵^ORCID,Tozliyan Elena V.²^ORCID,Feklistov Dmirty A.²,Shakhovskaya Nadezhda I.¹⁸^ORCID,Shreder Ekaterina V.⁶^ORCID

Affiliation:

1. Research Centre for Medical Genetics

2. Veltischev Research and Clinical Institute for Pediatrics

3. Research Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery; Pirogov Russian National Research Medical University

4. International Advisory Council of the DMD Patient’s Community; Charity Fund “Gordey”

5. Saint-Petersburg State Pediatric Medical University

6. Central Clinical Hospital with Outpatient Health Center of the office of President

7. National Medical Research Center of Children’s Health

8. Russian Children’s Clinical Hospital

9. Research Institute of Medical Genetics

10. “Rassvet” Clinic

11. Pirogov Russian National Research Medical University

12. Pirogov Russian National Research Medical University; V.F. Voyno-Yasenetsky Scientific and Practical Center of Specialized Medical Care for Children

13. City Multidisciplinary Hospital №2 of Pavlov First Saint Petersburg State Medical University

14. Lighthouse Charity Foundation

15. National Ilizarov Medical Research Centre for Traumatology and Ortopaedics

16. Regional Children’s Clinical Hospital

17. Research Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery; Sechenov First Moscow State Medical University

18. Psychoneurological Hospital for Children with Disturbance of the Central Nervous System with Mental Disorders

Abstract

Duchenne muscular dystrophy is one of the most common forms of childhood muscular dystrophies. Its incidence is 1 in 3.5–6 thousand newborn boys according to various sources. The disease is caused by the mutation in the DMD gene coding the dystrophin protein, it leads to the dystrophin absence or malfunction. The disease is characterized by proximal muscle weakness and gastrocnemius muscles pseudohypertrophy. In average, patients lose the ability to walk by themselves by the age of 11 and become nonambulatory. The authors have present modern epidemiological data and etiopathogenesis features of Duchenne muscular dystrophy, and have described clinical signs of different disease stages. The algorithm and key points of differential diagnosis are indicated. Special attention was given to the patients’ management: pathogenetic treatment and rehabilitation of pediatric patients.

Publisher

Paediatrician Publishers LLC

Subject

Pulmonary and Respiratory Medicine,Pediatrics, Perinatology and Child Health

Reference133 articles.

1. Bushby K, Finkel R, Birnkrant DJ, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurol. 2010;9(1):77–93. doi: https://doi.org/10.1016/S1474-4422(09)70271-6

2. Birnkrant DJ, Bushby K, Bann CM, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. Lancet Neurol. 2018;17(3):251–267. doi: https://doi.org/10.1016/S1474-4422(18)30024-3

3. Emery AEH, Muntoni F, Quinlivan R. Duchenne Muscular Dystrophy. 4th ed. Oxford, UK: Oxford University Press; 2015.

4. Song TJ, Lee KA, Kang SW, et al. Three cases of manifesting female carriers in patients with Duchenne muscular dystrophy. Yonsei Med J. 2011;52(1):192–195. doi: https://doi.org/10.3349/ymj.2011.52.1.192

5. Ferlini A, Neri M, Gualandi F. The medical genetics of dystrophinopathies: molecular genetic diagnosis and its impact on clinical practice. Neuromuscul Disord. 2013;23(1):4–14. doi: https://doi.org/10.1016/j.nmd.2012.09.002