Non-ambulatory Duchenne muscular dystrophy: observations, interventions, and outcomes on a single case
Keywords:
Duchenne Muscular Dystrophy; non-ambulatory; gene deletion; outcome
Abstract
Duchenne muscular dystrophy (DMD) is a X-linked recessive gene defect manifesting as a fatal, progressive neuromuscular disease. Treatment goals aim to inhibit disease progression, increase patients’ quality of life, and lengthen life expectancy. We report here a single case of non-ambulatory DMD.
References
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10. Baiardini I, Balestracci S, Walter C, Braido F, Rhinitis A. Quality of life in Duchenne muscular dystrophy?: the subjective impact on children and parents. J Child Neurol. 2011;26: 707-13. DOI: https://doi.org/10.1177/0883073810389043.
11. Deighton A, Szabo S, Salhany R, Harwood M, Mah J, Gooch K. Pro63 the natural history of Duchenne muscular dystrophy in the corticosteroid era: a systematic review of studies from Canada and the US. Value Heal. 2019;22:S852. DOI: https://doi.org/10.1016/j.jval.2019.09.2393.
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14. Toussaint M, Pernet K, Steens M, Haan J, Sheers N. Cough augmentation in subjects with duchenne muscular dystrophy: Comparison of air stacking via a resuscitator bag versus mechanical ventilation. Respir Care. 2016;61:61–7. DOI: https://doi.org/10.4187/respcare.04033
15. Liang W, Wang C, Chou P. The natural history of the patients with Duchenne muscular dystrophy in Taiwan?: a medical center experience. Pediatr Neonatol. 2017;1–8. DOI: https://doi.org/10.1016/j.pedneo.2017.02.004
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18. 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: https://doi.org/10.1007/978-1-4939-7374-3_3.
19. Nascimento Osorio A, Medina Cantillo J, Camacho Salas A, Madruga Garrido M, Vilchez Padilla JJ. Consensus on the diagnosis, treatment and follow-up of patients with Duchenne muscular dystrophy. Neurología. 2019; 34(7):469-481. DOI: https://doi.org/10.1016/j.nrl.2018.01.001
20. Takeuchi F, Komaki H, Nakamura H, Yonemoto N, Kashiwabara K, Kimura E, et al. Trends in steroid therapy for Duchenne muscular dystrophy in Japan. Muscle and Nerve. 2016;54:673–80. DOI: https://doi.org/10.1002/mus.25083
21. Matthews E, Brassington R, Kuntzer T, Jichi F, Manzur AY. Corticosteroids for the treatment of Duchenne muscular dystrophy (Review). Cochrane Database Syst Rev. 2016;2016:CD003725. DOI : https://doi.org/10.1002/14651858.CD003725.pub4.
22. Sussman MM. Duchenne muscular dystrophy. J Am Acad Orthop Surg. 2002;10:138–51. DOI: https://doi.org/10.5435/00124635-200203000-00009.
23. Al-Dahhak R, Kissel JT. Medical management of Duchenne muscular dystrophy: In: Chamberlain JS, Rando TA, editors. Duchenne muscular dystrophy: advances in therapeutics. New York and London: Taylor and Francis, Inc.; 2006. p. 123–35.
24. Darras BT, Urion DK, Ghosh PS. Corticosteroid Therapy in DMD. Dystrophinopathies Gene Rev. 2018;1–3.
25. McDonald CM, Henricson EK, Abresch RT, Duong T, Joyce NC, Hu F, et al. Long-term effects of glucocorticoids on function, quality of life, and survival in patients with Duchenne muscular dystrophy: a prospective cohort study. Lancet. 2018;391:451–61. DOI: https://doi.org/10.1016/S0140-6736(17)32160-8
26. Archer JE, Gardner AC, Roper HP, Chikermane AA, Tatman AJ. Duchenne muscular dystrophy: the management of scoliosis. J Spine Surg. 2016;2:185–94. DOI: https://doi.org/10.21037/jss.2016.08.05
27. Apkon SD, Alman B, Birnkrant DJ, Fitch R, Lark R, MacKenzie W, et al. Orthopedic and surgical management of the patient with Duchenne muscular dystrophy. Pediatrics. 2018;142:S82–9. DOI: https://doi.org/10.1542/peds.2018-0333J.
28. Bachrach LK. Taking steps towards reducing osteoporosis in Duchenne muscular dystrophy. Neuromuscul Disord. 2005;15:86–7. DOI: https://doi.org/10.1016/j.nmd.2004.10.011.
29. Farrar M, Perera N. Bone Health in Children with Duchenne Muscular Dystrophy: A Review. Pediatr Ther. 2015;05:252. DOI: https://doi.org/10.4172/2161-0665.1000252
30. Salera S, Menni F, Moggio M, Guez S, Sciacco M, Esposito S. Nutritional challenges in duchenne muscular dystrophy. Nutrients. 2017;9:594. DOI: https://doi.org/10.3390/nu9060594
31. Birnkrant DJ, Bushby K, Bann CM, Alman BA, Apkon SD, Blackwell A, et al. Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management. 2018;17:347–61. DOI: https://doi.org/10.1016/S1474-4422(18)30025-5.
32. I Iskandar K, Dwianingsih EK, Pratiwi L, Kalim AS, Mardhiah H, Putranti AH, et al. The analysis of DMD gene deletions by multiplex PCR in Indonesian DMD/BMD patients: the era of personalized medicine. BMC Res Notes. 2019;12:704. DOI: https://doi.org/10.1186/s13104-019-4730-1.
33. Finder JD, Birnkrant D, Carl J, Farber HJ, Gozal D, Iannaccone ST, et al. Respiratory care of the patient with Duchenne muscular dystrophy: ATS consensus statement. Am J Respir Crit Care Med. 2004;170:456–65. DOI: https://doi.org/10.1164/rccm.200307-885ST.
2. Romitti PA, Zhu Y, Puzhankara S, James KA, Nabukera SK, Zamba GK, et al. Prevalence of Duschenne and Becker Muscular Dystrophies in the United States. Pediatrics. 2015;135:513–21. DOI: https://doi.org/10.1542/peds.2014-2044.
3. Passamano L, Taglia A, Palladino A, Viggiano E, D'Ambrosio, Scutifero M, et al. Improvement of survival in Duchenne Muscular Dystrophy?: retrospective analysis of 835 patients. Acta Myol. 2012;121–5. PMID : 23097603.
4. Van Ruiten HJA, Bettolo MC, Cheetham T, Eagle M, Lochmuller H, Straub V, et al. Why are some patients with Duchenne muscular dystrophy dying young?: An analysis of causes of death in North East England. Eur J Paediatr Neurol. 2016;20:904–9. DOI : https://doi.org/10.1016/j.ejpn.2016.07.0201.
5. Suthar R, Sankhyan N. Duchenne Muscular Dystrophy?: a practice update. Indian J Pediatr. 2018;85:276-81. DOI: https://doi.org/10.1007/s12098-017-2397-y.
6. Iskandar K, Sunartini, Nugrahanto AP, Ilma N, Kalim AS, Adistyawan G, et al. Use of air stacking to improve pulmonary function in Indonesian Duchenne muscular dystrophy patients: Bridging the standard of care gap in low middle income country setting. BMC Proc. 2019;13-21. PMID : 31890014.
7. Landfeldt E, Lindgren P, Bell CF, Schmitt C, Guglieri M, Straub V, et al. The burden of Duchenne muscular dystrophy. Neurology. 2014;83:529–36. DOI: https://doi.org/10.1212/WNL.0000000000000669.
8. Griffith R, Edwars R. A new chart for weight control in Duschenne muscular dystrophy. Arch Dis Child. 1988;1256–8.
9. Davidson ZE, Truby H. A review of nutrition in Duchenne muscular dystrophy. J Hum Nutr Diet. 2009;22:383–93. DOI: https://doi.org/10.1111/j.1365-277X.2009.00979.x.
10. Baiardini I, Balestracci S, Walter C, Braido F, Rhinitis A. Quality of life in Duchenne muscular dystrophy?: the subjective impact on children and parents. J Child Neurol. 2011;26: 707-13. DOI: https://doi.org/10.1177/0883073810389043.
11. Deighton A, Szabo S, Salhany R, Harwood M, Mah J, Gooch K. Pro63 the natural history of Duchenne muscular dystrophy in the corticosteroid era: a systematic review of studies from Canada and the US. Value Heal. 2019;22:S852. DOI: https://doi.org/10.1016/j.jval.2019.09.2393.
12. Wein N, Alfano L, Flanigan KM. Genetics and emerging treatments for Duchenne and Becker muscular dystrophy. Pediatr Clin North Am. 2015;62:723–42. DOI: https://doi.org/10.1016/j.pcl.2015.03.008.
13. Lee T, Takeshima Y, Kusunoki N, Awano H, Yagi M, Matsuo M, et al. Differences in carrier frequency between mothers of Duchenne and Becker muscular dystrophy patients. J Hum Genet. 2014;59:46–50. DOI: https://doi.org/10.1038/jhg.2013.119.
14. Toussaint M, Pernet K, Steens M, Haan J, Sheers N. Cough augmentation in subjects with duchenne muscular dystrophy: Comparison of air stacking via a resuscitator bag versus mechanical ventilation. Respir Care. 2016;61:61–7. DOI: https://doi.org/10.4187/respcare.04033
15. Liang W, Wang C, Chou P. The natural history of the patients with Duchenne muscular dystrophy in Taiwan?: a medical center experience. Pediatr Neonatol. 2017;1–8. DOI: https://doi.org/10.1016/j.pedneo.2017.02.004
16 Emery A. Duschenne Muscular Dystrophy. Motulsky AG, Harper PS, Borrow M, Scriver C, editors. 2nd ed. New York: Oxford University Express; 1993. p. 38.
17. Buddhe S, Cripe L, Friedland-Little J, Kertesz N, Eghtesady P, Finder J, et al. Cardiac management of the patient with Duchenne muscular dystrophy. Pediatrics. 2018;142:S72-81. DOI: https://doi.org/10.1542/peds.2018-0333I
18. 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: https://doi.org/10.1007/978-1-4939-7374-3_3.
19. Nascimento Osorio A, Medina Cantillo J, Camacho Salas A, Madruga Garrido M, Vilchez Padilla JJ. Consensus on the diagnosis, treatment and follow-up of patients with Duchenne muscular dystrophy. Neurología. 2019; 34(7):469-481. DOI: https://doi.org/10.1016/j.nrl.2018.01.001
20. Takeuchi F, Komaki H, Nakamura H, Yonemoto N, Kashiwabara K, Kimura E, et al. Trends in steroid therapy for Duchenne muscular dystrophy in Japan. Muscle and Nerve. 2016;54:673–80. DOI: https://doi.org/10.1002/mus.25083
21. Matthews E, Brassington R, Kuntzer T, Jichi F, Manzur AY. Corticosteroids for the treatment of Duchenne muscular dystrophy (Review). Cochrane Database Syst Rev. 2016;2016:CD003725. DOI : https://doi.org/10.1002/14651858.CD003725.pub4.
22. Sussman MM. Duchenne muscular dystrophy. J Am Acad Orthop Surg. 2002;10:138–51. DOI: https://doi.org/10.5435/00124635-200203000-00009.
23. Al-Dahhak R, Kissel JT. Medical management of Duchenne muscular dystrophy: In: Chamberlain JS, Rando TA, editors. Duchenne muscular dystrophy: advances in therapeutics. New York and London: Taylor and Francis, Inc.; 2006. p. 123–35.
24. Darras BT, Urion DK, Ghosh PS. Corticosteroid Therapy in DMD. Dystrophinopathies Gene Rev. 2018;1–3.
25. McDonald CM, Henricson EK, Abresch RT, Duong T, Joyce NC, Hu F, et al. Long-term effects of glucocorticoids on function, quality of life, and survival in patients with Duchenne muscular dystrophy: a prospective cohort study. Lancet. 2018;391:451–61. DOI: https://doi.org/10.1016/S0140-6736(17)32160-8
26. Archer JE, Gardner AC, Roper HP, Chikermane AA, Tatman AJ. Duchenne muscular dystrophy: the management of scoliosis. J Spine Surg. 2016;2:185–94. DOI: https://doi.org/10.21037/jss.2016.08.05
27. Apkon SD, Alman B, Birnkrant DJ, Fitch R, Lark R, MacKenzie W, et al. Orthopedic and surgical management of the patient with Duchenne muscular dystrophy. Pediatrics. 2018;142:S82–9. DOI: https://doi.org/10.1542/peds.2018-0333J.
28. Bachrach LK. Taking steps towards reducing osteoporosis in Duchenne muscular dystrophy. Neuromuscul Disord. 2005;15:86–7. DOI: https://doi.org/10.1016/j.nmd.2004.10.011.
29. Farrar M, Perera N. Bone Health in Children with Duchenne Muscular Dystrophy: A Review. Pediatr Ther. 2015;05:252. DOI: https://doi.org/10.4172/2161-0665.1000252
30. Salera S, Menni F, Moggio M, Guez S, Sciacco M, Esposito S. Nutritional challenges in duchenne muscular dystrophy. Nutrients. 2017;9:594. DOI: https://doi.org/10.3390/nu9060594
31. Birnkrant DJ, Bushby K, Bann CM, Alman BA, Apkon SD, Blackwell A, et al. Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management. 2018;17:347–61. DOI: https://doi.org/10.1016/S1474-4422(18)30025-5.
32. I Iskandar K, Dwianingsih EK, Pratiwi L, Kalim AS, Mardhiah H, Putranti AH, et al. The analysis of DMD gene deletions by multiplex PCR in Indonesian DMD/BMD patients: the era of personalized medicine. BMC Res Notes. 2019;12:704. DOI: https://doi.org/10.1186/s13104-019-4730-1.
33. Finder JD, Birnkrant D, Carl J, Farber HJ, Gozal D, Iannaccone ST, et al. Respiratory care of the patient with Duchenne muscular dystrophy: ATS consensus statement. Am J Respir Crit Care Med. 2004;170:456–65. DOI: https://doi.org/10.1164/rccm.200307-885ST.
Published
2022-07-06
How to Cite
1.
Noer S, Sunartini S, Suryantoro P. Non-ambulatory Duchenne muscular dystrophy: observations, interventions, and outcomes on a single case. PI [Internet]. 6Jul.2022 [cited 23Nov.2024];62(3):208-6. Available from: https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/2447
Section
Case Report
Copyright (c) 2022 Sevria Yetty Anggraina Noer, Sunartini -, Purnomo Suryantoro
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Received 2020-07-13
Accepted 2022-07-06
Published 2022-07-06
Accepted 2022-07-06
Published 2022-07-06
