Update on the management of Duchenne muscular dystrophy

Archives of Disease in Childhood

Volumn 93, Issue 11, 2008, Pages 986-990

  Manzur, Adnan Y ^a   Kinali, M ^a   Muntoni, F ^a  

^a GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BETA ADRENERGIC RECEPTOR BLOCKING AGENT; CORTICOSTEROID; CREATINE KINASE; DEFLAZACORT; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; DIURETIC AGENT; GLUCOCORTICOID; PREDNISONE; STEROID;

ARTIFICIAL VENTILATION; CARDIOMYOPATHY; CHILD CARE; CLINICAL FEATURE; DIAGNOSTIC PROCEDURE; DISEASE COURSE; DISEASE SEVERITY; DOSE RESPONSE; DRUG CONTRAINDICATION; DUCHENNE MUSCULAR DYSTROPHY; ELECTROMYOGRAPHY; GENE MUTATION; GENE THERAPY; HEALTH CARE COST; HETEROZYGOTE; HUMAN; HYPOVENTILATION; HYPOXEMIA; MEDICAL SERVICE; MOLECULAR GENETICS; NUTRITIONAL ASSESSMENT; ORTHOSIS; PHYSIOTHERAPY; PRIORITY JOURNAL; RECESSIVE INHERITANCE; REHABILITATION CARE; REVIEW; SCOLIOSIS; SLEEP APNEA SYNDROME; TRACHEOSTOMY; TREATMENT DURATION; UNSPECIFIED SIDE EFFECT;

CARDIOMYOPATHY, DILATED; DYSTROPHIN; GENE THERAPY; GLUCOCORTICOIDS; HUMANS; MALE; MUSCULAR DYSTROPHY, DUCHENNE; PATIENT CARE TEAM; PHYSICAL THERAPY MODALITIES; RESPIRATION DISORDERS; SCOLIOSIS;

EID: 55349084415     PISSN: 00039888     EISSN: 14682044     Source Type: Journal    
DOI: 10.1136/adc.2007.118141     Document Type: Review

References (42)

1. Emery AE, Muntoni F. Duchenne muscular dystrophy. Oxford: Oxford University Press, 2003.
2. Muntoni F, Torelli S, Ferlini A. Dystrophin and mutations: one gene, several proteins, multiple phenotypes. Lancet Neurol 2003;2:731-40.
3. Mohamed K, Appleton R, Nicolaides P. Delayed diagnosis of Duchenne muscular dystrophy. Eur J Paediatr Neurol 2000;4:219-23.
4. Essex C, Roper H. Lesson of the week: late diagnosis of Duchenne's muscular dystrophy presenting as global developmental delay. BMJ 2001;323:37-8.
5. Chamberlain JS, Gibbs RA, Ranier JE, et al. Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res 1988;16:11141-56.
6. Schwartz M, Duno M. Improved molecular diagnosis of dystrophin gene mutations using the multiplex ligation-dependent probe amplification method. Genet Test 2004;8:361-7.
7. Ashton EJ, Yau SC, Deans ZC, et al. Simultaneous mutation scanning for gross deletions, duplications and point mutations in the DMD gene. Eur J Hum Genet 2008;16:53-61.
8. Muntoni F. Is a muscle biopsy in Duchenne dystrophy really necessary? Neurology 2001;57:574-5.
9. Heckmatt JZ, Moosa A. Hutson C, et al. Diagnostic needle muscle biopsy. A practical and reliable alternative to open biopsy. Arch Dis Child 1984;59:528-32.
10. Politano L, Nigro V, Nigra G, et al. Development of cardiomyopathy in female carriers of Duchenne and Becker muscular dystrophies. JAMA 1996;275:1335-8.
11. Eagle M. Report on the muscular dystrophy campaign workshop: exercise in neuromuscular diseases Newcastle, January 2002. Neuromuscul Disord 2002;12:975-83.
12. Heckmatt JZ, Dubowitz V, Hyde SA, et al. Prolongation of walking in Duchenne muscular dystrophy with lightweight orthoses: review of 57 cases. Dev Med Child Neurol 1985;27:149-54.
13. Garralda ME, Muntoni F, Cunniff A, et al. Knee-ankle-foot orthosis in children with duchenne muscular dystrophy: user views and adjustment. Eur J Paediatr Neurol 2006;10:186-91.
14. Main M, Mercuri E, Haliloglu G, et al. Serial casting of the ankles in Duchenne muscular dystrophy: can it be an alternative to surgery? Neuromuscul Disord 2007;17:227-30.
15. Manzur AY, Kuntzer T, Pike M, et al. Glucocorticoid corticosteroids for Duchenne muscular dystrophy. Cochrane Database Syst Rev 2004;(2):CD003725.
16. Biggar WD, Harris VA, Eliasoph L, et al. Long-term benefits of deflazacort treatment for boys with Duchenne muscular dystrophy in their second decade. Neuromuscul Disord 2006;16:249-55.
17. King WM, Ruttencutter R, Nagaraja HN, et al. Orthopedic outcomes of long-term daily corticosteroid treatment in Duchenne muscular dystrophy. Neurology 2007;68:1607-13.
18. Beenakker EA, Fock JM, Van Tol MJ, et al. Intermittent prednisone therapy in Duchenne muscular dystrophy: a randomized controlled trial. Arch Neurol 2005;62:128-32.
19. Bushby K, Muntoni F, Urtizberea A, et al. Report on the 124th ENMC International Workshop. Treatment of Duchenne muscular dystrophy; defining the gold standards of management in the use of corticosteroids. 2-4 April 2004, Naarden, The Netherlands. Neuromuscul Disord 2004;14:526-34.
20. Moxley RT 3rd, Ashwal S, Pandya S, et al. Practice parameter: corticosteroid treatment of Duchenne dystrophy: report of the Duality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology 2005;64:13-20.
21. Quinlivan R, Roper H, Davie M, et al. Report of a Muscular Dystrophy Campaign funded workshop Birmingham, UK, January 16th 2004. Osteoporosis in Duchenne muscular dystrophy; its prevalence, treatment and prevention. Neuromuscul Disord 2005;15:72-9.
22. Smith PE, Calverley PM, Edwards RH. Hypoxemia during sleep in Duchenne muscular dystrophy. Am Rev Respir Dis 1988;137:884-8.
23. Khan Y, Heckmatt JZ. Obstructive apnoeas in Duchenne muscular dystrophy. Thorax 1994;49:157-61.
24. Ward S, Chatwin M, Heather S, et al. Randomised controlled trial of non-invasive ventilation (NW) for nocturnal hypoventilation in neuromuscular and chest wall disease patients with daytime normocapnia. Thorax 2005;60:1019-24.
25. Simonds AK, Muntoni F, Heather S, et al. Impact of nasal ventilation on survival in hypercapnic Duchenne muscular dystrophy. Thorax 1998;53:949-52.
26. Eagle M, Baudouin S, Chandler C, et al. Survival in Duchenne muscular dystrophy: improvements in life expectancy since 1967 and the impact of home nocturnal ventilation. Neuromuscul Disord 2002;12:926-9.
27. Eagle M, Bourke J, Bullock R, et al. Managing Duchenne muscular dystrophy - the additive effect of spinal surgery and home nocturnal ventilation in improving survival. Neuromuscul Disord 2007;17:470-5.
28. Hill NS. Noninvasive positive pressure ventilation in neuromuscular disease. Enough is enough! Chest 1994;105:337-8.
29. Toussaint M, Steens M, Soudon P. Lung function accurately predicts hypercapnia in patients with Duchenne muscular dystrophy. Chest 2007;131:368-75.
30. Cox GF, Kunkel LM. Dystrophies and heart disease. Curr Opin Cardiol 1997;12:329-43.
31. Duboc D, Meune C, Lerebours G, et al. Effect of perindopril on the onset and progression of left ventricular dysfunction in Duchenne muscular dystrophy. J Am Coll Cardiol 2005;45:855-7.
32. Duboc D, Meune C, Pierre K, et al. Perindopril preventive treatment on mortality in Duchenne muscular dystrophy: 10 years' follow-up. Am Heart J 2007;154:596-602.
33. English KM, Gibbs JL. Cardiac monitoring and treatment for children and adolescents with neuromuscular disorders. Dev Med Child Neurol 2006;48:231-5.
34. Bushby K, Muntoni F, Bourke JP. 107th ENMC international workshop: the management of cardiac involvement in muscular dystrophy and myotonic dystrophy. 7th-9th June 2002, Naarden, the Netherlands. Neuromuscul Disord 2003;13:166-72.
35. Hoogerwaard EM, van der Wouw PA, Wilde AA, et al. Cardiac involvement in carriers of Duchenne and Becker muscular dystrophy. Neuromuscul Disord 1999;9:347-51.
36. Muntoni F, Bushby K, Manzur AY. Muscular Dystrophy Campaign Funded Workshop on Management of Scoliosis in Duchenne Muscular Dystrophy 24 January 2005, London, UK. Neuromuscul Disord 2006;16:210-9.
37. Marsh A, Edge G, Lehovsky J. Spinal fusion in patients with Duchenne's muscular dystrophy and a low forced vital capacity. Eur Spine J 2003;12:507-12.
38. Pane M, Vasta I, Messina S, et al. Feeding problems and weight gain in Duchenne muscular dystrophy. Eur J Paediatr Neurol 2006;10:231-6.
39. Parker AE, Robb SA, Chambers J, et al. Analysis of an adult Duchenne muscular dystrophy population. QJM 2005;98:729-36,
40. Wells DJ. Therapeutic restoration of dystrophin expression in Duchenne muscular dystrophy. J Muscle Res Cell Motil 2006;27:387- 98.
41. Alter J. Lou F, Rabinowitz A, et al. Systemic delivery of morpholino oligonucleotide restores dystrophin expression bodywide and improves dystrophic pathology. Nat Med 2006;12:175-7.
42. van Deutekom JC, Janson AA, Ginjaar IB, et al. Local dystrophin restoration with antisense oligonucleotide PR0051. N Engl J Med 2007;357:2677-86.