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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:10.1016/S1474-4422(09)70271-6
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 [published correction appears in Lancet Neurol. 2018 Apr 4;:]. Lancet Neurol. 2018;17(3):251-267. doi:10.1016/S1474-4422(18)30024-3
Emery AEH, Muntoni F, Quinlivan R. Duchenne Muscular Dystrophy. 4th ed. Oxford, UK: Oxford University Press; 2015.
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: 10.1016/j.nmd.2012.09.002
Blake DJ, Weir A, Newey SE, Davies KE. Function and genetics of dystrophin and dystrophin-related proteins in muscle. Physiol Rev. 2002;82(2):291-329. doi:10.1152/physrev.00028.2001
Jones H, De Vivo DC, Darras BT. Neuromuscular disorders of infancy, childhood and adolescence. A clinician"s approach. Oxford: Butterworth-Heinemann; 2003
Tay SK, Ong HT, Low PS. Transaminitis in Duchenne"s muscular dystrophy. Ann Acad Med Singap. 2000;29(6):719-722.
Perloff JK. Cardiac rhythm and conduction in Duchenne"s muscular dystrophy: a prospective study of 20 patients. J Am Coll Cardiol. 1984;3(5):1263-1268. doi:10.1016/s0735-1097(84)80186-2
Chenard AA, Becane HM, Tertrain F, de Kermadec JM, Weiss YA. Ventricular arrhythmia in Duchenne muscular dystrophy: prevalence, significance and prognosis. Neuromuscul Disord. 1993;3(3):201-206. doi:10.1016/0960-8966(93)90060-w
Phillips MF, Quinlivan RC, Edwards RH, Calverley PM. Changes in spirometry over time as a prognostic marker in patients with Duchenne muscular dystrophy. Am J Respir Crit Care Med. 2001;164(12):2191-2194. doi:10.1164/ajrccm.164.12.2103052
Rideau Y, Jankowski LW, Grellet J. Respiratory function in the muscular dystrophies. Muscle Nerve. 1981;4(2):155-164. doi:10.1002/mus.880040213
Baydur A, Gilgoff I, Prentice W, Carlson M, Fischer DA. Decline in respiratory function and experience with long-term assisted ventilation in advanced Duchenne"s muscular dystrophy. Chest. 1990;97(4):884-889. doi:10.1378/chest.97.4.884
Inkley SR, Oldenburg FC, Vignos PJ Jr. Pulmonary function in Duchenne muscular dystrophy related to stage of disease. Am J Med. 1974;56(3):297-306. doi:10.1016/0002-9343(74)90611-1
Suresh S, Wales P, Dakin C, Harris MA, Cooper DG. Sleep-related breathing disorder in Duchenne muscular dystrophy: disease spectrum in the paediatric population. J Paediatr Child Health. 2005;41(9-10):500-503. doi:10.1111/j.1440-1754.2005.00691.x
Leibowitz D, Dubowitz V. Intellect and behaviour in Duchenne muscular dystrophy. Dev Med Child Neurol. 1981;23(5):577-590. doi:10.1111/j.1469-8749.1981.tb02039.x
Cotton S, Voudouris NJ, Greenwood KM. Intelligence and Duchenne muscular dystrophy: full-scale, verbal, and performance intelligence quotients. Dev Med Child Neurol. 2001;43(7):497-501. doi:10.1017/s0012162201000913
Anderson JL, Head SI, Rae C, Morley JW. Brain function in Duchenne muscular dystrophy. Brain. 2002;125(Pt 1):4-13. doi:10.1093/brain/awf012
Smith AD, Koreska J, Moseley CF. Progression of scoliosis in Duchenne muscular dystrophy. J Bone Joint Surg Am. 1989;71(7):1066-1074.
McDonald DG, Kinali M, Gallagher AC, et al. Fracture prevalence in Duchenne muscular dystrophy. Dev Med Child Neurol. 2002;44(10):695-698. doi:10.1017/s0012162201002778
Larson CM, Henderson RC. Bone mineral density and fractures in boys with Duchenne muscular dystrophy. J Pediatr Orthop. 2000;20(1):71-74.
Bushby K, Finkel R, Birnkrant DJ, et al. Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care [published correction appears in Lancet Neurol. 2010 Mar;9(3):237]. Lancet Neurol. 2010;9(2):177-189. doi:10.1016/S1474-4422(09)70272-8
Rivier F., Meyer P., Walther-Louvie U., Mercier M., Echenne B., Quijano-Roy S. Врожденные мышечные дистрофии: классификация и диагностика. Нервно-мышечные болезни. 2014;(1):6-20. https://doi.org/10.17650/2222-8721-2014-0-1-6-14
Ryder S, Leadley RM, Armstrong N, et al. The burden, epidemiology, costs and treatment for Duchenne muscular dystrophy: an evidence review. Orphanet J Rare Dis. 2017;12(1):79. Published 2017 Apr 26. doi:10.1186/s13023-017-0631-3
Yiu EM, Kornberg AJ. Duchenne muscular dystrophy. J Paediatr Child Health. 2015;51(8):759-764. doi:10.1111/jpc.12868
Romitti PA, Zhu Y, Puzhankara S, et al. Prevalence of Duchenne and Becker muscular dystrophies in the United States [published correction appears in Pediatrics. 2015 May;135(5):945]. Pediatrics. 2015;135(3):513-521. doi:10.1542/peds.2014-2044
Mah JK, Korngut L, Dykeman J, Day L, Pringsheim T, Jette N. A systematic review and meta-analysis on the epidemiology of Duchenne and Becker muscular dystrophy. Neuromuscul Disord. 2014;24(6):482-491. doi: 10.1016/j.nmd.2014.03.008
Moat SJ, Bradley DM, Salmon R, Clarke A, Hartley L. Newborn bloodspot screening for Duchenne muscular dystrophy: 21 years experience in Wales (UK). Eur J Hum Genet. 2013;21(10):1049-1053. doi:10.1038/ejhg.2012.301
Fayssoil A, Abasse S, Silverston K. Cardiac Involvement Classification and Therapeutic Management in Patients with Duchenne Muscular Dystrophy. J Neuromuscul Dis. 2017;4(1):17-23. doi:10.3233/JND-160194
Song TJ, Lee KA, Kang SW, Cho H, Choi YC. Three cases of manifesting female carriers in patients with Duchenne muscular dystrophy. Yonsei Med J. 2011;52(1):192-195. doi:10.3349/ymj.2011.52.1.192
Rutkove SB, Kapur K, Zaidman CM, et al. Electrical impedance myography for assessment of Duchenne muscular dystrophy. Ann Neurol. 2017;81(5):622-632. doi:10.1002/ana.24874
Sbrocchi AM, Rauch F, Jacob P, et al. The use of intravenous bisphosphonate therapy to treat vertebral fractures due to osteoporosis among boys with Duchenne muscular dystrophy. Osteoporos Int. 2012;23(11):2703-2711. doi:10.1007/s00198-012-1911-3
Allington N, Vivegnis D, Gerard P. Cyclic administration of pamidronate to treat osteoporosis in children with cerebral palsy or a neuromuscular disorder: a clinical study. Acta Orthop Belg. 2005;71(1):91-97.
Wood CL, Cheetham TD, Guglieri M, et al. Testosterone Treatment of Pubertal Delay in Duchenne Muscular Dystrophy. Neuropediatrics. 2015;46(6):371-376. doi:10.1055/s-0035-1563696
Manzur AY, Kuntzer T, Pike M, Swan A. Glucocorticoid corticosteroids for Duchenne muscular dystrophy. Cochrane Database Syst Rev. 2008;(1):CD003725. Published 2008 Jan 23. doi: 10.1002/14651858.CD003725.pub3
Moxley RT 3rd, Ashwal S, Pandya S, et al. Practice parameter: corticosteroid treatment of Duchenne dystrophy: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology. 2005;64(1):13-20. doi:10.1212/01.WNL.0000148485.00049.B7
Mercuri E, Muntoni F, Osorio AN, et al. Safety and effectiveness of ataluren: comparison of results from the STRIDE Registry and CINRG DMD Natural History Study. J Comp Eff Res. 2020;9(5):341-360. doi:10.2217/cer-2019-0171
Gloss D, Moxley RT 3rd, Ashwal S, Oskoui M. Practice guideline update summary: Corticosteroid treatment of Duchenne muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology. Neurology. 2016;86(5):465-472. doi:10.1212/WNL.0000000000002337
Nicolas Deconinck, Nathalie Goemans. Management of Neuromuscular Disorders in Children: A Multidisciplinary Approach to Management. July 2019. Mac Keith Press. 1st Edition, p. 166-187. ISBN: 9781911612087
Birnkrant DJ, Bushby K, Bann CM, et al. Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management. Lancet Neurol. 2018;17(4):347-361. doi:10.1016/S1474-4422(18)30025-5
Birnkrant DJ, Bushby K, Bann CM, et al. Diagnosis and management of Duchenne muscular dystrophy, part 3: primary care, emergency management, psychosocial care, and transitions of care across the lifespan. Lancet Neurol. 2018;17(5):445-455. doi:10.1016/S1474-4422(18)30026-7
Ciafaloni E, Fox DJ, Pandya S, et al. Delayed diagnosis in duchenne muscular dystrophy: data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet). J Pediatr. 2009;155(3):380-385. doi: 10.1016/j.jpeds.2009.02.007
Sansović I, Barišić I, Dumić K. Improved detection of deletions and duplications in the DMD gene using the multiplex ligation-dependent probe amplification (MLPA) method. Biochem Genet. 2013;51(3-4):189-201. doi:10.1007/s10528-012-9554-9
Ankala A, da Silva C, Gualandi F, et al. A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield. Ann Neurol. 2015;77(2):206-214. doi:10.1002/ana.24303
Birnkrant DJ, Bushby KM, Amin RS, et al. The respiratory management of patients with duchenne muscular dystrophy: a DMD care considerations working group specialty article. Pediatr Pulmonol. 2010;45(8):739-748. doi:10.1002/ppul.21254
Finder JD, Birnkrant D, Carl J, et al. Respiratory care of the patient with Duchenne muscular dystrophy: ATS consensus statement. Am J Respir Crit Care Med. 2004;170(4):456-465. doi:10.1164/rccm.200307-885ST
Polavarapu K, Manjunath M, Preethish-Kumar V, et al. Muscle MRI in Duchenne muscular dystrophy: Evidence of a distinctive pattern. Neuromuscul Disord. 2016;26(11):768-774. doi: 10.1016/j.nmd.2016.09.002
Ma J, McMillan HJ, Karagüzel G, et al. The time to and determinants of first fractures in boys with Duchenne muscular dystrophy. Osteoporos Int. 2017;28(2):597-608. doi:10.1007/s00198-016-3774-5
McDonald CM, Henricson EK, Han JJ, et al. The 6-minute walk test as a new outcome measure in Duchenne muscular dystrophy. Muscle Nerve. 2010;41(4):500-510. doi:10.1002/mus.21544
McDonald CM. Timed function tests have withstood the test of time as clinically meaningful and responsive endpoints in duchenne muscular dystrophy. Muscle Nerve. 2018;58(5):614-617. doi:10.1002/mus.26334
Henricson E, Abresch R, Han JJ, et al. The 6-Minute Walk Test and Person-Reported Outcomes in Boys with Duchenne Muscular Dystrophy and Typically Developing Controls: Longitudinal Comparisons and Clinically-Meaningful Changes Over One Year. PLoS Curr. 2013;5: ecurrents.md.9e17658b007eb79fcd6f723089f79e06. Published 2013 Jul 8. doi:10.1371/currents.md.9e17658b007eb79fcd6f723089f79e06
McDonald CM, Henricson EK, Abresch RT, et al. The 6-minute walk test and other endpoints in Duchenne muscular dystrophy: longitudinal natural history observations over 48 weeks from a multicenter study. Muscle Nerve. 2013;48(3):343-356. doi:10.1002/mus.23902
Pandya S, Florence JM, King WM, Robison JD, Oxman M, Province MA. Reliability of goniometric measurements in patients with Duchenne muscular dystrophy. Phys Ther. 1985;65(9):1339-1342. doi:10.1093/ptj/65.9.1339
McDonald CM, Campbell C, Torricelli RE, et al. Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial. Lancet. 2017;390(10101):1489-1498. doi:10.1016/S0140-6736(17)31611-2
Finkel RS, Flanigan KM, Wong B, et al. Phase 2a study of ataluren-mediated dystrophin production in patients with nonsense mutation Duchenne muscular dystrophy. PLoS One. 2013;8(12):e81302. Published 2013 Dec 11. doi: 10.1371/journal.pone.0081302
Инструкция по медицинскому применению лекарственного препарата «Трансларна»
Kinnett K, Noritz G. The PJ Nicholoff Steroid Protocol for Duchenne and Becker Muscular Dystrophy and Adrenal Suppression. PLoS Curr. 2017;9:ecurrents.md.d18deef7dac96ed135e0dc8739917b6e. Published 2017 Jun 27. doi: 10.1371/currents.md.d18deef7dac96ed135e0dc8739917b6e
McNally EM, Kaltman JR, Benson DW, et al. Contemporary cardiac issues in Duchenne muscular dystrophy. Working Group of the National Heart, Lung, and Blood Institute in collaboration with Parent Project Muscular Dystrophy [published correction appears in Circulation. 2015 Jun 23;131(25):e539. Groh, William J [added]]. Circulation. 2015;131(18):1590-1598. doi:10.1161/CIRCULATIONAHA.114.015151
Institute of Medicine (US) Committee to Review Dietary Reference Intakes for Vitamin D and Calcium, Ross AC, Taylor CL, Yaktine AL, Del Valle HB, eds. Dietary Reference Intakes for Calcium and Vitamin D. Washington (DC): National Academies Press (US); 2011.
Bhasin S, Cunningham GR, Hayes FJ, et al. Testosterone therapy in men with androgen deficiency syndromes: an Endocrine Society clinical practice guideline [published correction appears in J Clin Endocrinol Metab. 2021 Jun 16;106(7):e2848]. J Clin Endocrinol Metab. 2010;95(6):2536-2559. doi:10.1210/jc.2009-2354
Institute of Medicine. Dietary reference intakes–the essential guide to nutrient requirements. Washington, DC: The NationalAcademies Press, 2006.
Martigne L, Seguy D, Pellegrini N, et al. Efficacy and tolerance of gastrostomy feeding in Duchenne muscular dystrophy. Clin Nutr. 2010;29(1):60-64. doi:10.1016/j.clnu.2009.06.009
McKim DA, Katz SL, Barrowman N, Ni A, LeBlanc C. Lung volume recruitment slows pulmonary function decline in Duchenne muscular dystrophy. Arch Phys Med Rehabil. 2012;93(7):1117-1122. doi:10.1016/j.apmr.2012.02.024
Stehling F, Bouikidis A, Schara U, Mellies U. Mechanical insufflation/exsufflation improves vital capacity in neuromuscular disorders. Chron Respir Dis. 2015;12(1):31-35. doi:10.1177/1479972314562209
Chiou M, Bach JR, Jethani L, Gallagher MF. Active lung volume recruitment to preserve vital capacity in Duchenne muscular dystrophy. J Rehabil Med. 2017;49(1):49-53. doi:10.2340/16501977-2144
Bianchi C, Baiardi P. Cough peak flows: standard values for children and adolescents. Am J Phys Med Rehabil. 2008;87(6):461-467. doi:10.1097/PHM.0b013e318174e4c7
Szeinberg A, Tabachnik E, Rashed N, et al. Cough capacity in patients with muscular dystrophy. Chest. 1988;94(6):1232-1235. doi:10.1378/chest.94.6.1232
LoMauro A, Romei M, D"Angelo MG, Aliverti A. Determinants of cough efficiency in Duchenne muscular dystrophy. Pediatr Pulmonol. 2014;49(4):357-365. doi:10.1002/ppul.22836
Archer JE, Gardner AC, Roper HP, Chikermane AA, Tatman AJ. Duchenne muscular dystrophy: the management of scoliosis. J Spine Surg. 2016;2(3):185-194. doi:10.21037/jss.2016.08.05
Alexander WM, Smith M, Freeman BJ, Sutherland LM, Kennedy JD, Cundy PJ. The effect of posterior spinal fusion on respiratory function in Duchenne muscular dystrophy. Eur Spine J. 2013;22(2):411-416. doi:10.1007/s00586-012-2585-4
Takaso M, Nakazawa T, Imura T, et al. Surgical management of severe scoliosis with high risk pulmonary dysfunction in Duchenne muscular dystrophy: patient function, quality of life and satisfaction. Int Orthop. 2010;34(5):695-702. doi:10.1007/s00264-010-0957-0
Pardo AC, Do T, Ryder T, Meyer A, Miles L, Wong BL. Combination of steroids and ischial weight-bearing knee ankle foot orthoses in Duchenne"s muscular dystrophy prolongs ambulation past 20 years of age--a case report. Neuromuscul Disord. 2011;21(11):800-802. doi:10.1016/j.nmd.2011.06.006
Garralda ME, Muntoni F, Cunniff A, Caneja AD. Knee-ankle-foot orthosis in children with duchenne muscular dystrophy: user views and adjustment. Eur J Paediatr Neurol. 2006;10(4):186-191. doi:10.1016/j.ejpn.2006.07.002
Abresch RT, Carter GT, Han JJ, McDonald CM. Exercise in neuromuscular diseases. Phys Med Rehabil Clin N Am. 2012;23(3):653-673. doi:10.1016/j.pmr.2012.06.001
Alemdaroğlu I, Karaduman A, Yilmaz ÖT, Topaloğlu H. Different types of upper extremity exercise training in Duchenne muscular dystrophy: effects on functional performance, strength, endurance, and ambulation. Muscle Nerve. 2015;51(5):697-705. doi:10.1002/mus.24451
Braat E, Hoste L, De Waele L, et al. Renal function in children and adolescents with Duchenne muscular dystrophy. Neuromuscul Disord. 2015;25(5):381-387. doi: 10.1016/j.nmd.2015.01.005
Wood CL, Straub V, Guglieri M, Bushby K, Cheetham T. Short stature and pubertal delay in Duchenne muscular dystrophy. Arch Dis Child. 2016;101(1):101-106. doi:10.1136/archdischild-2015-308654
Bianchi ML, Biggar D, Bushby K, Rogol AD, Rutter MM, Tseng B. Endocrine aspects of Duchenne muscular dystrophy. Neuromuscul Disord. 2011;21(4):298-303. doi: 10.1016/j.nmd.2011.02.006
West NA, Yang ML, Weitzenkamp DA, et al. Patterns of growth in ambulatory males with Duchenne muscular dystrophy. J Pediatr. 2013;163(6):1759-1763.e1. doi: 10.1016/j.jpeds.2013.08.004
Lohman TG, Roche AF, Martorell R. Anthropometric standardization reference manual. Champaign, IL: Human Kinetic Books, 1988.
Cummings EA, Ma J, Fernandez CV, et al. Incident Vertebral Fractures in Children With Leukemia During the Four Years Following Diagnosis. J Clin Endocrinol Metab. 2015;100(9):3408-3417. doi:10.1210/JC.2015-2176
Christiansen BA, Bouxsein ML. Biomechanics of vertebral fractures and the vertebral fracture cascade. Curr Osteoporos Rep. 2010;8(4):198-204. doi:10.1007/s11914-010-0031-2
Hayes J, Veyckemans F, Bissonnette B. Duchenne muscular dystrophy: an old anesthesia problem revisited. Paediatr Anaesth. 2008;18(2):100-106. doi:10.1111/j.1460-9592.2007. 02302.x
Feingold B, Mahle WT, Auerbach S, et al. Management of Cardiac Involvement Associated With Neuromuscular Diseases: A Scientific Statement From the American Heart Association. Circulation. 2017;136(13):e200-e231. doi:10.1161/CIR.0000000000000526
Грознова О.С., Влодавец Д.В., Артемьева С.Б. Поражение сердечно-сосудистой системы при прогрессирующей мышечной дистрофии Дюшенна: особенности диагностики, наблюдения и лечения. Педиатрия. Журнал имени Г.Н.Сперанского 2020; т.99, №3, 95-102.
McNally EM, Kaltman JR, Benson DW, et al. Contemporary cardiac issues in Duchenne muscular dystrophy. Working Group of the National Heart, Lung, and Blood Institute in collaboration with Parent Project Muscular Dystrophy [published correction appears in Circulation. 2015 Jun 23;131(25):e539. Groh, William J [added]]. Circulation. 2015;131(18):1590-1598. doi:10.1161/CIRCULATIONAHA.114.015151
Грознова О.С., Чечуро В.В. Лечение кардиомиопатий у больных прогрессирующими мышечными дистрофиями. Российский вестник перинатологии и педиатрии. 2011. Т. 56. № 2. С. 58-62.
Matsumura T. Beta-blockers in Children with Duchenne Cardiomyopathy. Rev Recent Clin Trials. 2014;9(2):76-81. doi:10.2174/1574887109666140908123856.
Mavrogeni SI, Markousis-Mavrogenis G, Papavasiliou A, Papadopoulos G, Kolovou G. Cardiac Involvement in Duchenne Muscular Dystrophy and Related Dystrophinopathies. Methods Mol Biol. 2018;1687:31-42. doi:10.1007/978-1-4939-7374-3_3
Thomas TO, Morgan TM, Burnette WB, Markham LW. Correlation of heart rate and cardiac dysfunction in Duchenne muscular dystrophy. Pediatr Cardiol. 2012;33(7):1175-1179. doi:10.1007/s00246-012-0281-0
Ponikowski P, Voors AA, Anker SD, et al. 2016 ESC Guidelines for the diagnosis and treatment of acute and chronic heart failure: The Task Force for the diagnosis and treatment of acute and chronic heart failure of the European Society of Cardiology (ESC)Developed with the special contribution of the Heart Failure Association (HFA) of the ESC [published correction appears in Eur Heart J. 2016 Dec 30;:]. Eur Heart J. 2016;37(27):2129-2200. doi:10.1093/eurheartj/ehw128
Raman SV, Hor KN, Mazur W, et al. Eplerenone for early cardiomyopathy in Duchenne muscular dystrophy: a randomised, double-blind, placebo-controlled trial [published correction appears in Lancet Neurol. 2015 Feb;14(2):135]. Lancet Neurol. 2015;14(2):153-161. doi:10.1016/S1474-4422(14)70318-7
Hunt SA, Abraham WT, Chin MH, Feldman AM, Francis GS, Ganiats TG, Jessup M, Konstam MA, Mancini DM, Michl K, Oates JA, Rahko PS, Silver MA, Stevenson LW, Yancy CW, Antman EM, Smith SCJr, Adams CD, Anderson JL, Faxon DP, Fuster V, Halperin JL, Hiratzka LF, Jacobs AK, Nishimura R, Ornato JP, Page RL, Riegel B. American College of Cardiology, American Heart Association Task Force on Practice Guidelines, American College of Chest Physicians, International Society for Heart and Lung Transplantation, Heart Rhythm Society ACC/AHA 2005 guideline update for the diagnosis and management of chronic heart failure in the adult: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to Update the 2001 Guidelines for the Evaluation and Management of Heart Failure): developed in collaboration with the American College of Chest Physicians and the International Society for Heart and Lung Transplantation: endorsed by the Heart Rhythm Society. Circulation. 2005; 112: e154–235.
Грознова О.С., Тренева М.С. Применение ингибитора ангиотензинпревращающего фермента и β-блокатора у больных миопатией Дюшенна в длительном катамнезе. Российский вестник перинатологии и педиатрии. 2012. Т. 57. № 4-1. С. 87-89.
Руденко Д.И., Поздняков А.В., Суслов В.М. Методы визуализации мышечной дистрофии Дюшенна (литературный обзор) // Междунар. неврол. журн.; МНЖ. 2017. №2 (88). URL: https://cyberleninka.ru/article/n/metody-vizualizatsii-myshechnoy-distrofii-dyushenna-literaturnyy-obzor (дата обращения: 26.06.2021).
Bushby K, Finkel R, Birnkrant DJ, et al. Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care [published correction appears in Lancet Neurol. 2010 Mar;9(3):237]. Lancet Neurol. 2010;9(2):177-189. doi:10.1016/S1474-4422(09)70272-8
Vignos Pj Jr, Spencer Ge Jr, Archibald Kc. Management of progressive muscular dystrophy in childhood. JAMA. 1963;184:89-96. doi:10.1001/jama.1963.03700150043007
Brooke MH, Griggs RC, Mendell JR, Fenichel GM, Shumate JB, Pellegrino RJ. Clinical trial in Duchenne dystrophy. I. The design of the protocol. Muscle Nerve. 1981;4(3):186-197. doi:10.1002/mus.880040304
Scott OM, Hyde SA, Goddard C, Dubowitz V. Quantitation of muscle function in children: a prospective study in Duchenne muscular dystrophy. Muscle Nerve. 1982;5(4):291-301. doi:10.1002/mus.880050405
ATS Committee on Proficiency Standards for Clinical Pulmonary Function Laboratories. ATS statement: guidelines for the six-minute walk test [published correction appears in Am J Respir Crit Care Med. 2016 May 15;193(10):1185]. Am J Respir Crit Care Med. 2002;166(1):111-117. doi:10.1164/ajrccm.166.1.at1102
Scott E, Eagle M, Mayhew A, et al. Development of a functional assessment scale for ambulatory boys with Duchenne muscular dystrophy. Physiother Res Int. 2012;17(2):101-109. doi:10.1002/pri.520
Gordon KE, Dooley JM, Sheppard KM, MacSween J, Esser MJ. Impact of bisphosphonates on survival for patients with Duchenne muscular dystrophy. Pediatrics. 2011;127(2):e353-e358. doi:10.1542/peds.2010-1666.
Doorenweerd N, Mahfouz A, van Putten M, et al. Timing and localization of human dystrophin isoform expression provide insights into the cognitive phenotype of Duchenne muscular dystrophy [published correction appears in Sci Rep. 2018 Mar 1;8(1):4058]. Sci Rep. 2017;7(1):12575. Published 2017 Oct 3. doi:10.1038/s41598-017-12981-5.
McDonald CM, Henricson EK, Abresch RT, et al. The 6-minute walk test and other endpoints in Duchenne muscular dystrophy: longitudinal natural history observations over 48 weeks from a multicenter study. Muscle Nerve. 2013;48(3):343-356. doi:10.1002/mus.23902
Marden JR, Freimark J, Yao Z, Signorovitch J, Tian C, Wong BL. Real-world outcomes of long-term prednisone and deflazacort use in patients with Duchenne muscular dystrophy: experience at a single, large care center. J Comp Eff Res. 2020;9(3):177-189. doi:10.2217/cer-2019-0170.
Гремякова Т.А., Суслов В.М., Сакбаева Г.Е., Степанов А.А. Витамин D в профилактике и терапии коморбидных состояний при мышечной дистрофии Дюшенна. Неврологический журнал имени Л.О. Бадаляна. 2021;2(1):38-50. https://doi.org/10.46563/2686-8997-2021-2-1-38-50
Gianola S, Castellini G, Pecoraro V, Monticone M, Banfi G, Moja L. Effect of Muscular Exercise on Patients With Muscular Dystrophy: A Systematic Review and Meta-Analysis of the Literature. Front Neurol. 2020;11:958. Published 2020 Nov 12. doi:10.3389/fneur.2020.00958
From the American Association of Neurological Surgeons (AANS), American Society of Neuroradiology (ASNR), Cardiovascular and Interventional Radiology Society of Europe (CIRSE), Canadian Interventional Radiology Association (CIRA), Congress of Neurological Surgeons (CNS), European Society of Minimally Invasive Neurological Therapy (ESMINT), European Society of Neuroradiology (ESNR), European Stroke Organization (ESO), Society for Cardiovascular Angiography and Interventions (SCAI), Society of Interventional Radiology (SIR), Society of NeuroInterventional Surgery (SNIS), and World Stroke Organization (WSO), Sacks D, Baxter B, et al. Multisociety Consensus Quality Improvement Revised Consensus Statement for Endovascular Therapy of Acute Ischemic Stroke. Int J Stroke. 2018;13(6):612-632. doi:10.1177/1747493018778713
Case LE, Apkon SD, Eagle M, et al. Rehabilitation Management of the Patient With Duchenne Muscular Dystrophy. Pediatrics. 2018;142(Suppl 2):S17-S33. doi:10.1542/peds.2018-0333D
Hind D, Parkin J, Whitworth V, et al. Aquatic therapy for children with Duchenne muscular dystrophy: a pilot feasibility randomised controlled trial and mixed-methods process evaluation. Health Technol Assess. 2017;21(27):1-120. doi:10.3310/hta21270
Uttley L, Carlton J, Woods HB, Brazier J. A review of quality of life themes in Duchenne muscular dystrophy for patients and carers. Health Qual Life Outcomes. 2018;16(1):237. Published 2018 Dec 19. doi:10.1186/s12955-018-1062-0
Guidance for Paediatric Physiotherapists Managing Neuromuscular Disorders. 2017 https://apcp.csp.org.uk/system/files/guidance_for_paediatric_physiotherapists_managing_neuromuscular_disorders_-_2017.pdf
Aydin Yağcioğlu G, Alemdaroğlu Gürbüz İ, Karaduman A, Bulut N, Yilmaz Ö. Kinesiology Taping in Duchenne Muscular Dystrophy: Acute Effects on Performance, Gait Characteristics, and Balance. Dev Neurorehabil. 2021;24(3):199-204. doi:10.1080/17518423.2020.1839805
Jansen M, van Alfen N, Geurts AC, de Groot IJ. Assisted bicycle training delays functional deterioration in boys with Duchenne muscular dystrophy: the randomized controlled trial "no use is disuse". Neurorehabil Neural Repair. 2013;27(9):816-827. doi:10.1177/1545968313496326
Araujo APQC, Nardes F, Fortes CPDD, et al. Brazilian consensus on Duchenne muscular dystrophy. Part 2: rehabilitation and systemic care [published correction appears in Arq Neuropsiquiatr. 2018 Oct;76(10):1]. Arq Neuropsiquiatr. 2018;76(7):481-489. doi:10.1590/0004-282X20180062.
Hubert Chen. A Mini-Review on The Rehabilitation of Duchenne Muscular Dystrophy. 3(2). EPMR. 000560. 2021. doi: 10.31031/EPMR.2021.03.000560
Richardson M, Frank AO. Electric powered wheelchairs for those with muscular dystrophy: problems of posture, pain and deformity. Disabil Rehabil Assist Technol. 2009;4(3):181-188. doi:10.1080/17483100802543114
Pedlow K, McDonough S, Lennon S, Kerr C, Bradbury I. Assisted standing for Duchenne muscular dystrophy [published online ahead of print, 2019 Oct 13]. Cochrane Database Syst Rev. 2019;10(10):CD011550. doi: 10.1002/14651858.CD011550.pub2
Wonkam-Tingang E, Nguefack S, Esterhuizen AI, Chelo D, Wonkam A. DMD-related muscular dystrophy in Cameroon: Clinical and genetic profiles. Mol Genet Genomic Med. 2020;8(8): e1362. doi:10.1002/mgg3.1362
Karaiev T, Tkachenko O, Kononets O, Lichman L. A FAMILY HISTORY OF DUCHENNE MUSCULAR DYSTROPHY. Georgian Med News. 2020;(303):79-85.
Kononets O, Karaiev T, Tkachenko O, Lichman L. Renal, hepatic and immune function indices in patients with duchenne muscular dystrophy. Georgian Med News. 2020;(309):64-71.
Rosales XQ, Chu ML, Shilling C, Wall C, Pastores GM, Mendell JR. Fidelity of gamma-glutamyl transferase (GGT) in differentiating skeletal muscle from liver damage. J Child Neurol. 2008;23(7):748-751. doi:10.1177/0883073808314365
Xie B. Zhonghua Shen Jing Jing Shen Ke Za Zhi. 1991;24(3):165-189.
Zabłocka B, Górecki DC, Zabłocki K. Disrupted Calcium Homeostasis in Duchenne Muscular Dystrophy: A Common Mechanism behind Diverse Consequences. Int J Mol Sci. 2021;22(20):11040. Published 2021 Oct 13. doi:10.3390/ijms222011040
Maunder-Sewry CA, Dubowitz V. Myonuclear calcium in carriers of Duchenne muscular dystrophy. An X-ray microanalysis study. J Neurol Sci. 1979;42(3):337-347. doi:10.1016/0022-510x(79)90167-9
Bostock EL, Edwards BT, Jacques MF, et al. Impaired Glucose Tolerance in Adults with Duchenne and Becker Muscular Dystrophy. Nutrients. 2018;10(12):1947. Published 2018 Dec 7. doi:10.3390/nu10121947
Stücker R, Stücker S, Mladenov K. Wirbelsäulendeformität bei Muskeldystrophie Typ Duchenne [Spinal deformity in Duchenne muscular dystrophy]. Orthopade. 2021;50(8):638-642. doi:10.1007/s00132-021-04127-3
Waldrop MA, Flanigan KM. Update in Duchenne and Becker muscular dystrophy. Curr Opin Neurol. 2019;32(5):722-727. doi:10.1097/WCO.0000000000000739
Lee JS, Kim K, Jeon YK, et al. Effects of Traction on Interpretation of Lumbar Bone Mineral Density in Patients with Duchenne Muscular Dystrophy: A New Measurement Method and Diagnostic Criteria Based on Comparison of Dual-Energy X-Ray Absorptiometry and Quantitative Computed Tomography. J Clin Densitom. 2020;23(1):53-62. doi: 10.1016/j.jocd.2018.07.006
Saito T, Ohfuji S, Matsumura T, et al. Safety of a Pandemic Influenza Vaccine and the Immune Response in Patients with Duchenne Muscular Dystrophy. Intern Med. 2015;54(10):1199-1205. doi:10.2169/internalmedicine.54.1186
Matsumura T, Takahashi M, Nakamori M, et al. Rinsho Shinkeigaku. 2004;44(10):695-698.
van Bockel EA, Lind JS, Zijlstra JG, et al. Cardiac assessment of patients with late stage Duchenne muscular dystrophy. Neth Heart J. 2009;17(6):232-237. doi:10.1007/BF03086253
Martins E, Silva-Cardoso J, Silveira F, Nadais G, Gonçalves FR. Left ventricular function in adults with muscular dystrophies: genotype-phenotype correlations. Rev Port Cardiol. 2005;24(1):23-35.
Janisch M, Boehme K, Thiele S, et al. Tasks and interfaces in primary and specialized palliative care for Duchenne muscular dystrophy - A patients" perspective. Neuromuscul Disord. 2020;30(12):975-985. doi: 10.1016/j.nmd.2020.09.031
Arias R, Andrews J, Pandya S, et al. Palliative care services in families of males with Duchenne muscular dystrophy. Muscle Nerve. 2011;44(1):93-101. doi:10.1002/mus.22005
Cullom C, Vo V, McCabe MD. Orthotopic Heart Transplantation in Manifesting Carrier of Duchenne Muscular Dystrophy [published online ahead of print, 2021 Oct 1]. J Cardiothorac Vasc Anesth. 2021; S1053-0770(21)00875-2. doi: 10.1053/j.jvca.2021.09.047
Mercuri E, Muntoni F, Buccella F, et al. Age at loss of ambulation in patients with DMD from the STRIDE Registry and the CINRG Duchenne Natural History Study: a matched cohort analysis
Matsumura T. Beta-blockers in Children with Duchenne Cardiomyopathy. Rev Recent Clin Trials. 2014;9(2):76-81. doi:10.2174/1574887109666140908123856
Mayhew A, Mazzone ES, Eagle M, et al. Development of the Performance of the Upper Limb module for Duchenne muscular dystrophy. Dev Med Child Neurol. 2013;55(11):1038-1045. doi:10.1111/dmcn.12213
Куренков А.Л., Кузенкова Л.М., Пак Л.А., Бурсагова Б.И., Подклетнова Т.В., Кондакова О.Б., Лялина А.А., Гребенкин Д.И., Пушков А.А., Давыдова Ю.И., Савостьянов К.В. Дифференциальный диагноз мышечной дистрофии Дюшенна. Неврологический журнал имени Л.О. Бадаляна. 2021; 2(3): 159-166. https://doi.org/10.46563/2686-8997-2021-2-3-159-166
Angelini C, Peterle E. Old and new therapeutic developments in steroid treatment in Duchenne muscular dystrophy. Acta Myol. 2012;31(1):9-15.
Janisch M, Boehme K, Thiele S, et al. Tasks and interfaces in primary and specialized palliative care for Duchenne muscular dystrophy - A patients" perspective. Neuromuscul Disord. 2020;30(12):975-985. doi: 10.1016/j.nmd.2020.09.031
D.G. Birnkrant, K. Bushby, Bann C.N. et al. Diagnosis and management of Duchenne muscular dystrophy, part 3: primary care, emergency management, psychosocial care, and transitions of care across the lifespan // The Lancet Neurology. – 2018, v. 17, issue 5, p. 445-455
Engel J.M., Kartin D., Carter G.T. et al. Pain in youths with neiromuscular disease // American Journal of Hospice and Palliative Medicine. – 2009. – v.26 (5). – P. 405-412.
Sepulveda C., Marlin A., Yoshida T., Ullrich A. Palliative care: the World Health Organization’s global perspective // J Pain Symptom Manage. 2002; V.24, P. 91-96
Pastrana T., Junger S., Ostgathe C., Elsner F., Radbruch L. A matter of definition – key elements identified in a discourse analysis of definitions of palliative care // Palliat Med 2008; v.22, p 222-232
Janisch M., Buchholtz S.N., Haden M.V. pediatric palliative care of Duchene muscular dystrophy in Germany // Neuropediatrics 2018. – 49. S1-69.
Sadasivan A, Warrier MG, Polavarapu K, Preethish-Kumar V, Nair MG, Keerthipriya MS, et al. Palliative care in Duchenne muscular dystrophy: A study on parents’ understanding. Indian J Palliat Care 2021;27: p 146-51.
Жданова Л.В., Лебедева О.А., Колмакова В.В., Русинова Т.А. Развитие амбулаторной паллиативной помощи детям и подросткам в Республике Бурятия // Вестник Бурятского государственного университета. Медицина и фармация. 2019.Вып.1. С.39‒43.
Минаева Н.В., Исламова Р.И., Баженова М.И. Выездная патронажная паллиативная медицинская помощь детям: двухлетний опыт работы некоммерческой благотворительной организации // «Вопросы современной педиатрии». 2020; 19(1): 46-56.
Соколова М.Г., Никишина О.А. Использование искусственной вентиляции легких у тяжелобольных детей в домашних условиях // «Здоровье – основа человеческого потенциала: проблемы и пути их решения». – 2013. Том №8, №1. – С. 262-263
Bushby, K., Finkel, R., Birnkrant, D. J., Case, L. E., Clemens, P. R., Cripe, L., … Constantin, C. (2010). Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. The Lancet Neurology, 9(1), 77–93. doi:10.1016/s1474-4422(09)70271-6
Darmahkasih, A. J., Rybalsky, I., Tian, C., Shellenbarger, K. C., Horn, P., Lambert, J. T., & Wong, B. L. (2020). Neurodevelopmental, Behavioral, and Emotional Symptoms Common in Duchenne Muscular Dystrophy. Muscle & Nerve. doi:10.1002/mus.26803
Parent Project Muscular Dystrophy. Vaccination recommendations. 2015 http://www.parentprojectmd.org/site/PageServer?pagename=Care_area_vaccinations
Mochizuki H, Okahashi S, Ugawa Y, et al. Heart rate variability and hypercapnia in Duchenne muscular dystrophy. Intern Med. 2008;47(21):1893-1897. doi:10.2169/internalmedicine.47.1118
Takasugi T, Ishihara T, Kawamura J, et al. Nihon Kyobu Shikkan Gakkai Zasshi. 1995;33(1):17-22.
Birnkrant DJ, Bushby KM, Amin RS, et al. The respiratory management of patients with duchenne muscular dystrophy: a DMD care considerations working group specialty article. Pediatr Pulmonol. 2010;45(8):739-748. doi:10.1002/ppul.21254.
Leroy-Willig A. et al. Body composition determined with MR in patients with Duchenne muscular dystrophy, spinal muscular atrophy, and normal subjects //Magnetic resonance imaging. – 1997. – Т. 15. – №. 7. – С. 737-744.
MCDonald C. M. et al. The 6‐minute walk test in Duchenne/Becker muscular dystrophy: longitudinal observations //Muscle & nerve. – 2010. – Т. 42. – №. 6. – С. 966-974.
Pandya S. et al. Rehabilitative technology use among individuals with Duchenne/Becker muscular dystrophy //Journal of pediatric rehabilitation medicine. – 2016. – Т. 9. – №. 1. – С. 45-53.
Bulut N. et al. The effect of aerobic training on motor function and muscle architecture in children with Duchenne muscular dystrophy: A randomized controlled study //Clinical Rehabilitation. – 2022. – Т. 36. – №. 8. – С. 1062-1071.