Duchenne muscular dystophy: A short review and treatment update
Iranian Journal of Child Neurology,
Vol. 15 No. 2 (2021),
8 March 2021
https://doi.org/10.22037/ijcn.v16i1.33282
Abstract
After advances in clinical care and newer efforts in therapeutic approaches, life span has lengthened in Duchenne muscular dystrophy (DMD). Starting from eary 1980s, each decade lead to a five year gain. DMD is not simply a monogenic X-linked disorder, it is a multisystemic condition. Pulmonary, cardiac, endocrine, gastrointestinal, and bone health aspects need careful monitoring along with pyschology, physiotherapy, social and family as a whole.
Molecular treatments are becoming facts, which some are already at hand. Some others are expected to be available within the next two years.
Keywords:
- Duchenne muscular dystrophy; Clinical care; Newer treatments
How to Cite
Topaloglu, H. (2020). Duchenne muscular dystophy: A short review and treatment update. Iranian Journal of Child Neurology, 15(2). https://doi.org/10.22037/ijcn.v16i1.33282
References
1. Hoffman EP, Brown RH, Kunkel LM. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell. 1987 Dec 24;51(6):919–28.
2. Deconinck N, Dan B. Pathophysiology of duchenne muscular dystrophy: current hypotheses. Pediatr Neurol. 2007 Jan;36(1):1–7.
3. 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. Lancet Neurol. 2018 Mar;17(3):251– 67.
4. Banihani R, Smile S, Yoon G, et al. Cognitive and Neurobehavioral Profile in Boys With Duchenne Muscular Dystrophy. J Child Neurol. 2015 Oct;30(11):1472–82.
5. Fox H, Millington L, Mahabeer I, van Ruiten H. Duchenne muscular dystrophy. BMJ 2020;368:17012
6. 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 Apr;17(4):347–61.
7. Song T-J, Lee K-A, Kang S-W, Cho H, Choi Y-C. Three Cases of Manifesting Female Carriers in Patients with Duchenne Muscular Dystrophy. Yonsei Med J. 2011 Jan 1;52(1):192–5
8. Politano L, Nigro V, Nigro G, et al. Development of cardiomyopathy in female carriers of Duchenne and Becker muscular dystrophies. JAMA. 1996 May 1;275(17):1335–8.
9. Muntoni F, et al. Brief report: deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy. N Engl J Med. 1993;329(13):921-5.
10. Towbin JA, et al. X-linked dilated cardiomy- opathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dys- trophin) gene at the Xp21 locus. Circulation. 1993;87(6):1854-65.
11. Gospe SM, Jr, et al. Familial X-linked myalgia and cramps: a nonprogressive myopathy as- sociated with adeletion in the dystrophin gene. Neurology. 1989;39(10):1277-80.
12. Mayhew AG, Cano SJ, Scott E, et al. Detecting meaningful change using the North Star Ambulatory Assessment in Duchenne muscular dystrophy. Dev Med Child Neurol. 2013 Nov;55(11):1046–52.
13. Merlini L, Gennari M, Malaspina E, et al. Early corticosteroid treatment in 4 Duchenne muscular dystrophy patients: 14-year follow-up. Muscle Nerve. 2012 Jun;45(6):796– 802
14. Matthews E, Brassington R, Kuntzer T, Jichi F, Manzur AY. Corticosteroids for the treatment of Duchenne muscular dystrophy. Cochrane Database Syst Rev. 2016 May 5;(5):CD003725.
15. 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 May;17(5):445–55.
16. McNally EM, Kaltman JR, Benson DW, et al. Contemporary Cardiac Issues in Duchenne Muscular Dystrophy. Circulation. 2015 May 5;131(18):1590–8.
17. Eagle M, Baudouin SV, Chandler C, Giddings DR, Bullock R, Bushby K. Survival in Duchenne muscular dystrophy: improvements in life expectancy since 1967 and the impact of home nocturnal ventilation. Neuromuscul Disord NMD. 2002 Dec;12(10):9269.
18. Bach JR, Martinez D. Duchenne muscular dystrophy: continuous noninvasive ventilatory support prolongs survival. Respir Care. 2011 Jun;56(6):744–50.
19. Joseph S, Wang C, Di Marco M, et al. Fractures and bone health monitoring in boys with Duchenne muscular dystrophy managed within the Scottish Muscle Network. Neuromuscul Disord NMD. 2018 Sep 25; 14
20. Apkon SD, Alman B, Birnkrant DJ, et al. Orthopedic and Surgical Management of the Patient With Duchenne Muscular Dystrophy. Pediatrics. 2018 Oct;142(Suppl 2):S82–9.
21. Reinig AM, Mirzaei S, Berlau DJ. Advances in the Treatment of Duchenne Muscular Dystro- phy: New and Emerging Pharmacotherapies. Pharmacotherapy. 2017;37(4):492-9.
22. Abreu NJ, Waldrop MA. Overview of gene therpay in spinal muscular atrophy andDuchenne muscular dystrophy. Pediatric Pulmonology 2020;1-11
23. Bushby K, et al. Ataluren treatment of patients with nonsense mutation dystrophinopathy. Muscle Nerve. 2014;50(4):477-87.
24. Cirak S, et al. Exon skipping and dystrophin restoration in patients with Duchenne muscu- lar dystrophy after systemic phosphorodiami- date morpholino oligomer treatment: an open-label, phase 2, dose-escalation study. Lancet. 2011;378(9791):595-605.
25. Voit T, et al. Safety and efficacy of drisapersen for the treatment of Duchenne muscular dystrophy (DEMAND II): an ex- ploratory, randomised, placebo-controlled phase 2 study. Lancet Neurol. 2014;13(10):987-96.
26. Mendell JR, et al. Eteplirsen for the treatment of Duchenne muscular dystrophy. Ann Neu- rol. 2013;74(5):637-47
27. Asher DR, Khampaseuth T, Dharia SD et al. Clinical development on the frontier: gene therapy for duchenne muscular dystrophy. Expert opinion on biological therapy 2020;20:263-274.
28. Heslop E, Turner C, Irvin A, et al. Gene therapy in Duchenne muscular dystrophy:Identifying and preparing for the challenges ahead. Neuromuscular Disorder2020; (in press).
29. Burgart AM, Magnus D, Tabor HK, Paquette ED, Frader J, Glover JJ, et al. Ethical Challenges Confronted When Providing Nusinersen Treatment for Spinal Mus- cular Atrophy. JAMA Pediatr. 2018 Feb;172(2):188– 192.
30. Samia P, Kirton A, Dale Russell, et al. Position statement: Emerging genetic therapies for rare disorders. JICNA [Internet]. 2019Jul.25;1(1). Available from https://jicna.org/index.php/journal/article/view/jicna- 2019-172
2. Deconinck N, Dan B. Pathophysiology of duchenne muscular dystrophy: current hypotheses. Pediatr Neurol. 2007 Jan;36(1):1–7.
3. 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. Lancet Neurol. 2018 Mar;17(3):251– 67.
4. Banihani R, Smile S, Yoon G, et al. Cognitive and Neurobehavioral Profile in Boys With Duchenne Muscular Dystrophy. J Child Neurol. 2015 Oct;30(11):1472–82.
5. Fox H, Millington L, Mahabeer I, van Ruiten H. Duchenne muscular dystrophy. BMJ 2020;368:17012
6. 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 Apr;17(4):347–61.
7. Song T-J, Lee K-A, Kang S-W, Cho H, Choi Y-C. Three Cases of Manifesting Female Carriers in Patients with Duchenne Muscular Dystrophy. Yonsei Med J. 2011 Jan 1;52(1):192–5
8. Politano L, Nigro V, Nigro G, et al. Development of cardiomyopathy in female carriers of Duchenne and Becker muscular dystrophies. JAMA. 1996 May 1;275(17):1335–8.
9. Muntoni F, et al. Brief report: deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy. N Engl J Med. 1993;329(13):921-5.
10. Towbin JA, et al. X-linked dilated cardiomy- opathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dys- trophin) gene at the Xp21 locus. Circulation. 1993;87(6):1854-65.
11. Gospe SM, Jr, et al. Familial X-linked myalgia and cramps: a nonprogressive myopathy as- sociated with adeletion in the dystrophin gene. Neurology. 1989;39(10):1277-80.
12. Mayhew AG, Cano SJ, Scott E, et al. Detecting meaningful change using the North Star Ambulatory Assessment in Duchenne muscular dystrophy. Dev Med Child Neurol. 2013 Nov;55(11):1046–52.
13. Merlini L, Gennari M, Malaspina E, et al. Early corticosteroid treatment in 4 Duchenne muscular dystrophy patients: 14-year follow-up. Muscle Nerve. 2012 Jun;45(6):796– 802
14. Matthews E, Brassington R, Kuntzer T, Jichi F, Manzur AY. Corticosteroids for the treatment of Duchenne muscular dystrophy. Cochrane Database Syst Rev. 2016 May 5;(5):CD003725.
15. 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 May;17(5):445–55.
16. McNally EM, Kaltman JR, Benson DW, et al. Contemporary Cardiac Issues in Duchenne Muscular Dystrophy. Circulation. 2015 May 5;131(18):1590–8.
17. Eagle M, Baudouin SV, Chandler C, Giddings DR, Bullock R, Bushby K. Survival in Duchenne muscular dystrophy: improvements in life expectancy since 1967 and the impact of home nocturnal ventilation. Neuromuscul Disord NMD. 2002 Dec;12(10):9269.
18. Bach JR, Martinez D. Duchenne muscular dystrophy: continuous noninvasive ventilatory support prolongs survival. Respir Care. 2011 Jun;56(6):744–50.
19. Joseph S, Wang C, Di Marco M, et al. Fractures and bone health monitoring in boys with Duchenne muscular dystrophy managed within the Scottish Muscle Network. Neuromuscul Disord NMD. 2018 Sep 25; 14
20. Apkon SD, Alman B, Birnkrant DJ, et al. Orthopedic and Surgical Management of the Patient With Duchenne Muscular Dystrophy. Pediatrics. 2018 Oct;142(Suppl 2):S82–9.
21. Reinig AM, Mirzaei S, Berlau DJ. Advances in the Treatment of Duchenne Muscular Dystro- phy: New and Emerging Pharmacotherapies. Pharmacotherapy. 2017;37(4):492-9.
22. Abreu NJ, Waldrop MA. Overview of gene therpay in spinal muscular atrophy andDuchenne muscular dystrophy. Pediatric Pulmonology 2020;1-11
23. Bushby K, et al. Ataluren treatment of patients with nonsense mutation dystrophinopathy. Muscle Nerve. 2014;50(4):477-87.
24. Cirak S, et al. Exon skipping and dystrophin restoration in patients with Duchenne muscu- lar dystrophy after systemic phosphorodiami- date morpholino oligomer treatment: an open-label, phase 2, dose-escalation study. Lancet. 2011;378(9791):595-605.
25. Voit T, et al. Safety and efficacy of drisapersen for the treatment of Duchenne muscular dystrophy (DEMAND II): an ex- ploratory, randomised, placebo-controlled phase 2 study. Lancet Neurol. 2014;13(10):987-96.
26. Mendell JR, et al. Eteplirsen for the treatment of Duchenne muscular dystrophy. Ann Neu- rol. 2013;74(5):637-47
27. Asher DR, Khampaseuth T, Dharia SD et al. Clinical development on the frontier: gene therapy for duchenne muscular dystrophy. Expert opinion on biological therapy 2020;20:263-274.
28. Heslop E, Turner C, Irvin A, et al. Gene therapy in Duchenne muscular dystrophy:Identifying and preparing for the challenges ahead. Neuromuscular Disorder2020; (in press).
29. Burgart AM, Magnus D, Tabor HK, Paquette ED, Frader J, Glover JJ, et al. Ethical Challenges Confronted When Providing Nusinersen Treatment for Spinal Mus- cular Atrophy. JAMA Pediatr. 2018 Feb;172(2):188– 192.
30. Samia P, Kirton A, Dale Russell, et al. Position statement: Emerging genetic therapies for rare disorders. JICNA [Internet]. 2019Jul.25;1(1). Available from https://jicna.org/index.php/journal/article/view/jicna- 2019-172
- Abstract Viewed: 78 times
- pdf Downloaded: 0 times
