Список литературы

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;9:77–93. 2. Birnkrant DJ, Busby 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 Mar;17(3):251-267. 3. Emery AEH, Muntoni F, Quinlivan R. Duchenne Muscular Dystrophy. 4th ed. Oxford, UK: Oxford University Press; 2015. 4. Ferlini, A.; Neri, M.; Gualandi, F. The medical genetics of dystrophinopathies: Molecular genetic diagnosis and its impact on clinical practice. Neuromuscul. Disord. 2013, 23, 4–14. 5. Blake DJ, Weir A, Newey SE, Davies KE. Function and genetics of dystrophin and dystrophin-related proteins in muscle. Physiol Rev. 2002;82:291-329. 6. Jones H, De Vivo DC, Darras BT. Neuromuscular disorders of infancy, childhood and adolescence. A clinician's approach. Oxford: Butterworth-Heinemann; 2003 7. Tay SK, Ong HT, Low PS. Transaminitis in Duchenne's muscular dystrophy. Ann Acad Med Singapore 2000;29:719-22. 8. Perloff JK. Cardiac rhythm and conduction in Duchenne's muscular dystrophy: A prospective study of 20 patients. J Am Coll Cardiol 1984;3:1263-8. Back to cited text no. 3 9. Chenard AA, Becane HM, Tertrain F, de Kermadec JM, Weiss YA. Ventricular arrhythmia in Duchenne muscular dystrophy: Prevalence, significance and prognosis. Neuromuscul Disord 1993;3:201-6. 10. 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;164:2191-4. Back to cited text no. 6 11. Rideau Y, Jankowski LW, Grellet J. Respiratory function in the muscular dystrophies. Muscle Nerve 1981;4:155-64. Back to cited text no. 7 12. 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;97:884-9. Back to cited text no. 8 13. Inkley SR, Oldenburg FC, Vignos PJ Jr. Pulmonary function in Duchenne muscular dystrophy related to stage of disease. Am J Med 1974;56:297-306. 14. 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;41:500-3. 15. Leibowitz D, Dubowitz V. Intellect and behaviour in Duchenne muscular dystrophy. Dev Med Child Neurol 1981;23:577-90. Back to cited text no. 16 16. Cotton S, Voudouris NJ, Greenwood KM. Intelligence and Duchenne muscular dystrophy: Full-scale, verbal and performance intelligence quotients. Dev Med Child Neurol 2001;43:497-501. Back to cited text no. 17 17. Anderson JL, Head SI, Rae C, Morley JW. Brain function in Duchenne muscular dystrophy. Brain 2002;125:4-13. 45 18. Smith AD, Koreska J, Moseley CF. Progression of scoliosis in Duchenne muscular dystrophy. J Bone Joint Surg Am 1989;71:1066-74 19. McDonald DG, Kinali M, Gallagher AC, Mercuri E, Muntoni F, Roper H, et al . Fracture prevalence in Duchenne muscular dystrophy. Dev Med Child Neurol 2002;44:695-8. Back to cited text no. 26 20. Larson CM, Henderson RC. Bone mineral density and fractures in boys with Duchenne muscular dystrophy. J Pediatr Orthop 2000;20:71-4 21. Bushby K, Finkel R, Birnkrant DJ, et al. Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care. Lancet Neurol 2009; published online Nov 30. DOI:10.1016/S1474-4422(09)70272-8. 22. Rivier F., Meyer P., Walther-Louvie U. et al. Врожденные мышечные дистрофии: классификация и диагностика. Нервно-мышечные болезни 2014;1;6–20. 23. 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 Apr 26;12(1): 24. Yiu EM, Kornberg AJ. Duchenne muscular dystrophy. J Paediatr Child Health. 2015 Aug;51(8):759-64 25. Romitti PA et al. Prevalence of Duchenne and Becker muscular dystrophies in the United States. Pediatrics. 2015;135(3):513–521; 26. Mah JK et al. A systematic review and meta-analysis on the epidemiology of Duchenne and Becker muscular dystrophy. Neuromuscul Disord. 2014;24(6):482–491; 27. Moat SJ et al. Newborn bloodspot screening for Duchenne muscular dystrophy: 21 years experience in Wales (UK). Eur J Hum Genet. 2013;21(10):1049–53.) 28. 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. 29. 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 30. Rutkove SB, Kapur K, Zaidman CM, et al. Electrical impedance myography for assessment of Duchenne muscular dystrophy. Ann Neurol. 2017 May;81(5):622-632Matsumura T. Betablockers in Children with Duchenne Cardiomyopathy. Rev Recent Clin Trials. 2014;9(2):76- 81. 31. 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: 2703–11. ; 32. 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: 91–97 33. Wood CL, Cheetham TD, Guglieri M, et al. Testosterone treatment of pubertal delay in Duchenne muscular dystrophy.Neuropediatrics 2015; 46: 371–76. 34. Manzur AY, Kuntzer T, Pike M, Swan A. Glucocorticoid corticosteroids for Duchenne muscular dystrophy. Cochrane Database Syst Rev 2008; 1: CD003725. 35. 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 46 Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology 2005; 64: 13–20. 36. Eugenio Mercuri, Francesco Muntoni, Andrés Nascimento Osorio 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 Apr;9(5):341-360. 37. Gloss D., Moxley R.T. 3rd, Ashwal S. et al. 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): 465–72. DOI: 10.1212/WNL.0000000000002337 38. 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 39. Birnkrant DJ, Bushby K, Bann CM, et al. DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management. Lancet Neurol. 2018 Apr;17(4):347-361. 40. Birnkrant DJ, Bushby K, Bann CM, et al. DMD Care Considerations Working Group. 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 May;17(5):445-455. 41. 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: 380–85. 42. 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: 189–201. 43. 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: 206–14. 44. 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: 739–48. 45. 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: 456–65. 46. Polavarapu K, Manjunath M, Preethish-Kumar V, et al. Muscle MRI in Duchenne muscular dystrophy: Evidence of a distinctive pattern. Neuromuscul Disord. 2016 Nov;26(11):768-774 47. Ma J, McMillan HJ, Karaguzel G, et al. The time to and determinants of first fractures in boys with Duchenne muscular dystrophy. Osteoporos Int 2017; 28: 597–608. 48. 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 Apr;41(4):500-10 49. McDonald CM. Timed function tests have withstood the test of time as clinically meaningful and responsive endpoints in duchenne muscular dystrophy. Muscle Nerve. 2018 Nov;58(5):614-617 50. 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. 47 51. 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: 343–56. 52. Pandya S, Florence JM, King WM, et al. Reliability of goniometric measurements in patients with Duchenne muscular dystrophy. Phys Ther. 1985 Sep;65(9):1339-42 53. McDonald CM, Campbell C, Torricelli RE, et al. Clinical Evaluator Training Group; ACT DMD Study Group. Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial. Lancet. 2017 Sep 23;390(10101):1489-1498. 54. 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 Dec 11;8(12):e81302 55. Инструкция по медицинскому применению лекарственного препарата «Трансларна» 56. Kinnett K, Noritz G. The PJ Nicholoff Steroid Protocol for Duchenne and Becker muscular dystrophy and adrenal suppression. PLoS Curr 2017; 9 57. 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. Circulation 2015; 131: 1590–98. 58. Institute of Medicine. Dietary reference intakes for calcium and vitamin D. Ross AC, Taylor CL, Yaktine AL, Valle HBD, eds.Washington, DC: The National Academies Press, 2011. 59. Bhasin S, Cunningham GR, Hayes FJ, et al. Testosterone therapy in men with androgen deficiency syndromes: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab 2010; 95: 2536–59. 60. Institute of Medicine. Dietary reference intakes—the essential guide to nutrient requirements. Washington, DC: The NationalAcademies Press, 2006. 61. Martigne L, Seguy D, Pellegrini N, et al. Efficacy and tolerance of gastrostomy feeding in Duchenne muscular dystrophy.Clin Nutr 2010; 29: 60–64. 62. 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: 1117–22. 63. Stehling F, Bouikidis A, Schara U, Mellies U. Mechanical insufflation/exsufflation improves vital capacity in neuromuscular disorders. Chron Respir Dis 2015; 12: 31–35. 64. 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: 49–53. 65. Bianchi C, Baiardi P. Cough peak flows: standard values for children and adolescents. Am J Phys Med Rehabil 2008; 87: 461–67. 66. Szeinberg A, Tabachnik E, Rashed N, et al. Cough capacity in patients with muscular dystrophy. Chest 1988; 94: 1232–35. 67. LoMauro A, Romei M, D’Angelo MG, Aliverti A. Determinants of cough efficiency in Duchenne muscular dystrophy. Pediatr Pulmonol.2014; 49: 357–65. 68. Archer JE, Gardner AC, Roper HP, Chikermane AA, Tatman AJ. Duchenne muscular dystrophy: the management of scoliosis. J Spine Surg 2016; 2: 185–94. 69. 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: 411–16. 48 70. 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: 695–702. 71. 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: 800–02. 72. 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: 186–91. 73. Abresch RT, Carter GT, Han JJ, McDonald CM. Exercise in neuromuscular diseases. Phys Med Rehabil Clin N Am 2012; 23: 653–73. 74. Alemdaroğlu I, Karaduman A, Yilmaz OT, 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: 697–705. 75. Birnkrant DJ, Bushby K, Bann CM, DMD Care Considerations Working Group. 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 May;17(5):445-455. 76. Wood CL, Straub V, Guglieri M, Bushby K, Cheetham T. Short stature and pubertal delay in Duchenne muscular dystrophy.Arch Dis Child 2016; 101: 101–06. 77. Bianchi ML, Biggar D, Bushby K, Rogol AD, Rutter MM, Tseng B. Endocrine aspects of Duchenne muscular dystrophy. Neuromuscul Disord 2011; 21: 298–303 78. West NA, Yang ML, Weitzenkamp DA, et al. Patterns of growth in ambulatory males with Duchenne muscular dystrophy. J Pediatr 2013; 163: 1759–63.e1. 79. Lohman TG, Roche AF, Martorell R. Anthropometric standardization reference manual. Champaign, IL: Human Kinetic Books, 1988. 80. 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: 3408–17. 81. Christiansen BA, Bouxsein ML. Biomechanics of vertebral fractures and the vertebral fracture cascade. Curr Osteoporos Rep 2010;8: 198–204. 82. Hayes J, Veyckemans F, Bissonnette B. Duchenne muscular dystrophy: an old anesthesia problem revisited. Paediatr Anaesth 2008; 18: 100–06. 83. Feingold B, Mahle WT, Auerbach S, Clemens P, Domenighetti AA, Jefferies JL, Judge DP, Lal AK, Markham LW, Parks WJ, Tsuda T, Wang PJ, Yoo SJ. Management of Cardiac Involvement Associated With Neuromuscular Diseases: A Scientific Statement From the American Heart Association. Circulation. 2017 Sep 26; 136 (13): 200–231. doi: 10.1161/CIR.0000000000000526 84.Грознова О.С., Влодавец Д.В., Артемьева С.Б. Поражение сердечно-сосудистой системы при прогрессирующей мышечной дистрофии Дюшенна: особенности 49 диагностики, наблюдения и лечения. Педиатрия. Журнал имени Г.Н.Сперанского 2020; т.99, №3, 95-102. 85.McNally EM, Kaltman JR, Woodrow Benson D, Canter CE, Cripe LH, Duan D, Finder JD, Hoffman EP, Judge DP, Kertesz N, Kinnett K, Kirsch R, Metzger JM, Pearson GD, RafaelFortney JA, Raman SV, Spurney CF, Targum SL, Wagner KR, Markham LW. Contemporary Cardiac Issues in Duchenne Muscular Dystrophy. Circulation. 2015 May 5; 131 (18): 1590– 1598. doi: 10.1161/CIRCULATIONAHA.114.015151. 86. 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. 87. Matsumura T. Beta-blockers in Children with Duchenne Cardiomyopathy. Rev. Recent Clin. Trials. 2014; 9 (2): 76–81. 88.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. 89. Morgan TM, Burnette WB, Markham LW. Correlation of heart rate and cardiac dysfunction in Duchenne muscular dystrophy. Pediatr. Cardiol. 2012; 33: 1175–1179. doi: 10.1007/s00246- 012-0281-0. 90. Ponikowski P, Voors AA, Anker SD, Bueno H, Cleland JGF, Coats AJS, Falk V, GonzálezJuanatey JR, Harjola VP, Jankowska EA, Jessup M, Linde C. Nihoyannopoulos P, Parissis JT, Pieske B, Riley JP, Rosano GMC, Ruilope LM, Ruschitzka F, Rutten FH, van der Meer P. 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. Eur. Heart J. 2016; 14; 37 (27): 2129-2200. doi: 10.1093/eurheartj/ehw128. 91. Raman SV, Hor KN, Mazur W, Halnon NJ, Kissel JT, He X, Tran T, Smart S, McCarthy B, Taylor MD, Jefferies JL, Rafael-Fortney JA, Lowe J, Roble SL, Cripe LH. Eplerenone for early cardiomyopathy in Duchenne muscular dystrophy: a randomised, double-blind, placebocontrolled trial. Lancet Neurol. 2015 Feb; 14 (2): 153–161. doi: 10.1016/S1474-4422(14)70318- 7. 92. 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. 93. 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. 94. Руденко Д.И., Поздняков А.В., Суслов В.М. Методы визуализации мышечной 50 дистрофии Дюшенна (литературный обзор) // Междунар. неврол. журн.; МНЖ. 2017. №2 (88). URL: https://cyberleninka.ru/article/n/metody-vizualizatsii-myshechnoy-distrofiidyushenna-literaturnyy-obzor (дата обращения: 26.06.2021).