Педиатрическая фармакология (Nov 2023)
Duchenne Muscular Dystrophy: Modern Approaches in Patient Management
- Inga V. Anisimova,
- Svetlana B. Artemyeva,
- Elena D. Belousova,
- Nato D. Vashakmadze,
- Dmitriy V. Vlodavets,
- Tatiana A. Gremyakova,
- Olga S. Groznova,
- Valentina I. Guzeva,
- Elena V. Gusakova,
- Lyudmila M. Kuzenkova,
- Alexey L. Kurenkov,
- Sergey I. Kutsev,
- Svetlana V. Mikhaylova,
- Lyudmila P. Nazarenko,
- Sergey S. Nikitin,
- Artem Yu. Novikov,
- Tatiana V. Podkletnova,
- Elena V. Polevichenko,
- Alexander V. Polyakov,
- Gennady G. Prokopyev,
- Dmitry I. Rudenko,
- Svetlana A. Repina,
- Evgeniia V. Romanenko,
- Sergey O. Ryabykh,
- Gul’zhan E. Sakbaeva,
- Elena Yu. Sapego,
- Liliia R. Selimzyanova,
- Andrey A. Stepanov,
- Dmitry M. Subbotin,
- Vasiliy M. Suslov,
- Elena V. Tozliyan,
- Dmirty A. Feklistov,
- Nadezhda I. Shakhovskaya,
- Ekaterina V. Shreder
Affiliations
- Inga V. Anisimova
- Research Centre for Medical Genetics
- Svetlana B. Artemyeva
- Veltischev Research and Clinical Institute for Pediatrics
- Elena D. Belousova
- Veltischev Research and Clinical Institute for Pediatrics
- Nato D. Vashakmadze
- Research Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery; Pirogov Russian National Research Medical University
- Dmitriy V. Vlodavets
- Veltischev Research and Clinical Institute for Pediatrics
- Tatiana A. Gremyakova
- International Advisory Council of the DMD Patient’s Community; Charity Fund “Gordey”
- Olga S. Groznova
- Veltischev Research and Clinical Institute for Pediatrics
- Valentina I. Guzeva
- Saint-Petersburg State Pediatric Medical University
- Elena V. Gusakova
- Central Clinical Hospital with Outpatient Health Center of the office of President
- Lyudmila M. Kuzenkova
- National Medical Research Center of Children’s Health
- Alexey L. Kurenkov
- National Medical Research Center of Children’s Health
- Sergey I. Kutsev
- Research Centre for Medical Genetics
- Svetlana V. Mikhaylova
- Russian Children’s Clinical Hospital
- Lyudmila P. Nazarenko
- Research Institute of Medical Genetics
- Sergey S. Nikitin
- Research Centre for Medical Genetics
- Artem Yu. Novikov
- “Rassvet” Clinic
- Tatiana V. Podkletnova
- National Medical Research Center of Children’s Health
- Elena V. Polevichenko
- Pirogov Russian National Research Medical University
- Alexander V. Polyakov
- Research Centre for Medical Genetics
- Gennady G. Prokopyev
- Pirogov Russian National Research Medical University; V.F. Voyno-Yasenetsky Scientific and Practical Center of Specialized Medical Care for Children
- Dmitry I. Rudenko
- City Multidisciplinary Hospital №2 of Pavlov First Saint Petersburg State Medical University
- Svetlana A. Repina
- Research Centre for Medical Genetics
- Evgeniia V. Romanenko
- Lighthouse Charity Foundation
- Sergey O. Ryabykh
- National Ilizarov Medical Research Centre for Traumatology and Ortopaedics
- Gul’zhan E. Sakbaeva
- Central Clinical Hospital with Outpatient Health Center of the office of President
- Elena Yu. Sapego
- Regional Children’s Clinical Hospital
- Liliia R. Selimzyanova
- Research Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery; Sechenov First Moscow State Medical University
- Andrey A. Stepanov
- Central Clinical Hospital with Outpatient Health Center of the office of President
- Dmitry M. Subbotin
- Research Centre for Medical Genetics
- Vasiliy M. Suslov
- Saint-Petersburg State Pediatric Medical University
- Elena V. Tozliyan
- Veltischev Research and Clinical Institute for Pediatrics
- Dmirty A. Feklistov
- Veltischev Research and Clinical Institute for Pediatrics
- Nadezhda I. Shakhovskaya
- Psychoneurological Hospital for Children with Disturbance of the Central Nervous System with Mental Disorders
- Ekaterina V. Shreder
- Central Clinical Hospital with Outpatient Health Center of the office of President
- DOI
- https://doi.org/10.15690/pf.v20i5.2615
- Journal volume & issue
-
Vol. 20,
no. 5
pp. 427 – 453
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.
Keywords
- duchenne myodystrophy
- hereditary diseases
- cardiomyopathies
- pathogenetic therapy
- rehabilitation
- children
