Duchenne Muscular Dystrophy: Modern Approaches in Patient Management
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 ma...
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| Language: | Russian |
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Union of pediatricians of Russia
2023-11-01
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| Series: | Педиатрическая фармакология |
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| Online Access: | https://www.pedpharma.ru/jour/article/view/2348 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Inga V. Anisimova |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-376b5dfeb86d48aa82f78ab3af2f103f |
| institution | DOAJ |
| issn | 1727-5776 2500-3089 |
| language | Russian |
| publishDate | 2023-11-01 |
| publisher | Union of pediatricians of Russia |
| record_format | Article |
| series | Педиатрическая фармакология |
| spelling | doaj-art-376b5dfeb86d48aa82f78ab3af2f103f2025-08-20T02:54:11ZrusUnion of pediatricians of RussiaПедиатрическая фармакология1727-57762500-30892023-11-0120542745310.15690/pf.v20i5.26152020Duchenne Muscular Dystrophy: Modern Approaches in Patient ManagementInga V. Anisimova0Svetlana B. Artemyeva1Elena D. Belousova2Nato D. Vashakmadze3Dmitriy V. Vlodavets4Tatiana A. Gremyakova5Olga S. Groznova6Valentina I. Guzeva7Elena V. Gusakova8Lyudmila M. Kuzenkova9Alexey L. Kurenkov10Sergey I. Kutsev11Svetlana V. Mikhaylova12Lyudmila P. Nazarenko13Sergey S. Nikitin14Artem Yu. Novikov15Tatiana V. Podkletnova16Elena V. Polevichenko17Alexander V. Polyakov18Gennady G. Prokopyev19Dmitry I. Rudenko20Svetlana A. Repina21Evgeniia V. Romanenko22Sergey O. Ryabykh23Gul’zhan E. Sakbaeva24Elena Yu. Sapego25Liliia R. Selimzyanova26Andrey A. Stepanov27Dmitry M. Subbotin28Vasiliy M. Suslov29Elena V. Tozliyan30Dmirty A. Feklistov31Nadezhda I. Shakhovskaya32Ekaterina V. Shreder33Research Centre for Medical GeneticsVeltischev Research and Clinical Institute for PediatricsVeltischev Research and Clinical Institute for PediatricsResearch Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery; Pirogov Russian National Research Medical UniversityVeltischev Research and Clinical Institute for PediatricsInternational Advisory Council of the DMD Patient’s Community; Charity Fund “Gordey”Veltischev Research and Clinical Institute for PediatricsSaint-Petersburg State Pediatric Medical UniversityCentral Clinical Hospital with Outpatient Health Center of the office of PresidentNational Medical Research Center of Children’s HealthNational Medical Research Center of Children’s HealthResearch Centre for Medical GeneticsRussian Children’s Clinical HospitalResearch Institute of Medical GeneticsResearch Centre for Medical Genetics“Rassvet” ClinicNational Medical Research Center of Children’s HealthPirogov Russian National Research Medical UniversityResearch Centre for Medical GeneticsPirogov Russian National Research Medical University; V.F. Voyno-Yasenetsky Scientific and Practical Center of Specialized Medical Care for ChildrenCity Multidisciplinary Hospital №2 of Pavlov First Saint Petersburg State Medical UniversityResearch Centre for Medical GeneticsLighthouse Charity FoundationNational Ilizarov Medical Research Centre for Traumatology and OrtopaedicsCentral Clinical Hospital with Outpatient Health Center of the office of PresidentRegional Children’s Clinical HospitalResearch Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery; Sechenov First Moscow State Medical UniversityCentral Clinical Hospital with Outpatient Health Center of the office of PresidentResearch Centre for Medical GeneticsSaint-Petersburg State Pediatric Medical UniversityVeltischev Research and Clinical Institute for PediatricsVeltischev Research and Clinical Institute for PediatricsPsychoneurological Hospital for Children with Disturbance of the Central Nervous System with Mental DisordersCentral Clinical Hospital with Outpatient Health Center of the office of PresidentDuchenne 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.https://www.pedpharma.ru/jour/article/view/2348duchenne myodystrophyhereditary diseasescardiomyopathiespathogenetic therapyrehabilitationchildren |
| spellingShingle | 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 Duchenne Muscular Dystrophy: Modern Approaches in Patient Management Педиатрическая фармакология duchenne myodystrophy hereditary diseases cardiomyopathies pathogenetic therapy rehabilitation children |
| title | Duchenne Muscular Dystrophy: Modern Approaches in Patient Management |
| title_full | Duchenne Muscular Dystrophy: Modern Approaches in Patient Management |
| title_fullStr | Duchenne Muscular Dystrophy: Modern Approaches in Patient Management |
| title_full_unstemmed | Duchenne Muscular Dystrophy: Modern Approaches in Patient Management |
| title_short | Duchenne Muscular Dystrophy: Modern Approaches in Patient Management |
| title_sort | duchenne muscular dystrophy modern approaches in patient management |
| topic | duchenne myodystrophy hereditary diseases cardiomyopathies pathogenetic therapy rehabilitation children |
| url | https://www.pedpharma.ru/jour/article/view/2348 |
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