Paediatric Respiratory Reviews
Volume 11, Issue 1 , Pages 9-17 , March 2010

Overview of paediatric neuromuscular disorders and related pulmonary issues: diagnostic and therapeutic considerations

  • M.L. Yang

      Affiliations

    • Children's Hospital Denver, 13123 E 16th Ave, Aurora, CO 80045-7106, USA
  • ,
  • R.S. Finkel

      Affiliations

    • Children's Hospital of Philadelphia, 34th St. and Civic Center Blvd, Philadelphia, PA 19104, USA
    • Corresponding Author InformationCorresponding author.

References 

  1. Muntoni F, Wells D. Genetic treatments in muscular dystrophies. Curr Opin Neurol. 2007;20:590–594
  2. Wallgren-Pettersson C, Bushby K, Mellies U, Simonds A. 117th ENMC workshop: ventilatory support in congenital neuromuscular disorders -- congenital myopathies, congenital muscular dystrophies, congenital myotonic dystrophy and SMA (II) 4-6 April 2003, Naarden, The Netherlands. Neuromuscul Disord. 2004;14:56–69
  3. Panitch HB. The pathophysiology of respiratory impairment in pediatric neuromuscular diseases. Pediatrics. 2009;123 Suppl 4:S215–218
  4. Kennedy JD, Martin AJ. Chronic respiratory failure and neuromuscular disease. Pediatr Clin North Am. 2009;56:261–273xii
  5. Katz SL. Assessment of sleep-disordered breathing in pediatric neuromuscular diseases. Pediatrics. 2009;123 Suppl 4:S222–225
  6. Gauld LM. Airway clearance in neuromuscular weakness. Dev Med Child Neurol. 2009;51:350–355
  7. Finder JD. A 2009 perspective on the 2004 American Thoracic Society statement “respiratory care of the patient with Duchenne muscular dystrophy”. Pediatrics. 2009;123 Suppl 4:S239–241
  8. Schroth MK. Special considerations in the respiratory management of spinal muscular atrophy. Pediatrics. 2009;123 Suppl 4:S245–249
  9. Alves RS, Resende MB, Skomro RP, Souza FJ, Reed UC. Sleep and neuromuscular disorders in children. Sleep Med Rev. 2009;13:133–148
  10. Kinali M, Beeson D, Pitt MC, et al. Congenital myasthenic syndromes in childhood: diagnostic and management challenges. J Neuroimmunol. 2008;201–202:6–12
  11. Hermans G, De Jonghe B, Bruyninckx F, Van den Berghe G. Clinical review: Critical illness polyneuropathy and myopathy. Crit Care. 2008;12:238
  12. 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. 2002;12:926–929
  13. Connuck DM, Sleeper LA, Colan SD, et al. Characteristics and outcomes of cardiomyopathy in children with Duchenne or Becker muscular dystrophy: a comparative study from the Pediatric Cardiomyopathy Registry. Am Heart J. 2008;155:998–1005
  14. Wang CH, Finkel RS, Bertini ES, et al. Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol. 2007;22:1027–1049
  15. Birnkrant DJ, Panitch HB, Benditt JO, et al. American College of Chest Physicians consensus statement on the respiratory and related management of patients with Duchenne muscular dystrophy undergoing anesthesia or sedation. Chest. 2007;132:1977–1986
  16. Harris SR. Congenital hypotonia: clinical and developmental assessment. Dev Med Child Neurol. 2008;50:889–892
  17. Bodensteiner JB. The evaluation of the hypotonic infant. Semin Pediatr Neurol. 2008;15:10–20
  18. Lipson MH. Common neonatal syndromes. Semin Fetal Neonatal Med. 2005;10:221–231
  19. Richer LP, Shevell MI, Miller SP. Diagnostic profile of neonatal hypotonia: an 11-year study. Pediatr Neurol. 2001;25:32–37
  20. Emery AE. The muscular dystrophies. Lancet. 2002;359:687–695
  21. Moser H. Duchenne muscular dystrophy: pathogenetic aspects and genetic prevention. Hum Genet. 1984;66:17–40
  22. Dubowitz V. Muscle disorders in childhood. 2nd ed.. Londo, Philadelphian: Saunders; 1995;
  23. Brooke MH, Fenichel GM, Griggs RC, et al. Duchenne muscular dystrophy: patterns of clinical progression and effects of supportive therapy. Neurology. 1989;39:475–481
  24. Beggs AH, Hoffman EP, Snyder JR, et al. Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies. Am J Hum Genet. 1991;49:54–67
  25. Muntoni F, Torelli S, Ferlini A. Dystrophin and mutations: one gene, several proteins, multiple phenotypes. Lancet Neurol. 2003;2:731–740
  26. Aartsma-Rus A, Van Deutekom JC, Fokkema IF, Van Ommen GJ, Den Dunnen JT. Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule. Muscle Nerve. 2006;34:135–144
  27. Petrof BJ, Shrager JB, Stedman HH, Kelly AM, Sweeney HL. Dystrophin protects the sarcolemma from stresses developed during muscle contraction. Proc Natl Acad Sci U S A. 1993;90:3710–3714
  28. Manzur AY, Kuntzer T, Pike M, Swan A. Glucocorticoid corticosteroids for Duchenne muscular dystrophy. Cochrane Database Syst Rev 2008; CD003725.
  29. King WM, Ruttencutter R, Nagaraja HN, et al. Orthopedic outcomes of long-term daily corticosteroid treatment in Duchenne muscular dystrophy. Neurology. 2007;68:1607–1613
  30. Moxley RT, 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;64:13–20
  31. 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;170:456–465
  32. Markham LW, Kinnett K, Wong BL, Woodrow Benson D, Cripe LH. Corticosteroid treatment retards development of ventricular dysfunction in Duchenne muscular dystrophy. Neuromuscul Disord. 2008;18:365–370
  33. Angelini C. The role of corticosteroids in muscular dystrophy: a critical appraisal. Muscle Nerve. 2007;36:424–435
  34. Simonds AK. Respiratory support for the severely handicapped child with neuromuscular disease: ethics and practicality. Semin Respir Crit Care Med. 2007;28:342–354
  35. Hers HG. alpha-Glucosidase deficiency in generalized glycogenstorage disease (Pompe's disease). Biochem J. 1963;86:11–16
  36. Kishnani PS, Hwu WL, Mandel H, Nicolino M, Yong F, Corzo D. A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. J Pediatr. 2006;148:671–676
  37. Kishnani PS, Steiner RD, Bali D, et al. Pompe disease diagnosis and management guideline. Genet Med. 2006;8:267–288
  38. Winchester B, Bali D, Bodamer OA, et al. Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting. Mol Genet Metab. 2008;93:275–281
  39. Kishnani PS, Corzo D, Nicolino M, et al. Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology. 2007;68:99–109
  40. Scottish Medicines Consortium. Alglucosidase alfa 50mg powder for concentrate for solution for infusion (Myozyme) No (352/07). 2007 http://www.scottishmedicines.org.uk/smc/files/alglucosidase%20alfa%2050mg%20powder_Myozyme_(352-07).pdf.
  41. Mellies U, Lofaso F. Pompe disease: a neuromuscular disease with respiratory muscle involvement. Respir Med. 2009;103:477–484
  42. Merk T, Wibmer T, Schumann C, Kruger S. Glycogen storage disease type II (Pompe disease)--influence of enzyme replacement therapy in adults. Eur J Neurol. 2009;16:274–277
  43. Papazian O. Transient neonatal myasthenia gravis. J Child Neurol. 1992;7:135–141
  44. Engel AG, Ohno K, Sine SM. Congenital myasthenic syndromes: progress over the past decade. Muscle Nerve. 2003;27:4–25
  45. Grob D, Brunner N, Namba T, Pagala M. Lifetime course of myasthenia gravis. Muscle Nerve. 2008;37:141–149
  46. Grob D, Arsura EL, Brunner NG, Namba T. The course of myasthenia gravis and therapies affecting outcome. Ann N Y Acad Sci. 1987;505:472–499
  47. Evoli A, Batocchi AP, Bartoccioni E, Lino MM, Minisci C, Tonali P. Juvenile myasthenia gravis with prepubertal onset. Neuromuscul Disord. 1998;8:561–567
  48. Lindner A, Schalke B, Toyka KV. Outcome in juvenile-onset myasthenia gravis: a retrospective study with long-term follow-up of 79 patients. J Neurol. 1997;244:515–520
  49. Kupersmith MJ, Latkany R, Homel P. Development of generalized disease at 2 years in patients with ocular myasthenia gravis. Arch Neurol. 2003;60:243–248
  50. Chiang LM, Darras BT, Kang PB. Juvenile myasthenia gravis. Muscle Nerve. 2009;39:423–431
  51. Andrews PI, Massey JM, Howard JF, Sanders DB. Race, sex, and puberty influence onset, severity, and outcome in juvenile myasthenia gravis. Neurology. 1994;44:1208–1214
  52. Andrews PI, Massey JM, Sanders DB. Acetylcholine receptor antibodies in juvenile myasthenia gravis. Neurology. 1993;43:977–982
  53. Snead OC, Benton JW, Dwyer D, et al. Juvenile myasthenia gravis. Neurology. 1980;30:732–739
  54. Evoli A, Tonali PA, Padua L, et al. Clinical correlates with anti-MuSK antibodies in generalized seronegative myasthenia gravis. Brain. 2003;126:2304–2311
  55. Keesey JC. Clinical evaluation and management of myasthenia gravis. Muscle Nerve. 2004;29:484–505
  56. Santoro L, Manganelli F, Di Maio L, et al. Charcot-Marie-Tooth disease type 2C: a distinct genetic entity. Clinical and molecular characterization of the first European family. Neuromuscul Disord. 2002;12:399–404
  57. Jones HR. Guillain-Barre syndrome: perspectives with infants and children. Semin Pediatr Neurol. 2000;7:91–102
  58. Rantala H, Uhari M, Niemela M. Occurrence, clinical manifestations, and prognosis of Guillain-Barre syndrome. Arch Dis Child. 1991;66:706–708discussion 708–709
  59. Korinthenberg R, Schessl J, Kirschner J. Clinical presentation and course of childhood Guillain-Barre syndrome: a prospective multicentre study. Neuropediatrics. 2007;38:10–17
  60. Jones HR. Childhood Guillain-Barre syndrome: clinical presentation, diagnosis, and therapy. J Child Neurol. 1996;11:4–12
  61. Lo YL. Clinical and immunological spectrum of the Miller Fisher syndrome. Muscle Nerve. 2007;36:615–627
  62. Hughes RA, Wijdicks EF, Barohn R, et al. Practice parameter: immunotherapy for Guillain-Barre syndrome: report of the Quality Standards Subcommittee of the American Academy of Neurology. Neurology. 2003;61:736–740
  63. Gordon PH, Wilbourn AJ. Early electrodiagnostic findings in Guillain-Barre syndrome. Arch Neurol. 2001;58:913–917
  64. Lefebvre S, Burglen L, Reboullet S, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell. 1995;80:155–165
  65. Munsat TL, Davies KE. International SMA consortium meeting. (26–28 June 1992, Bonn, Germany). Neuromuscul Disord. 1992;2:423–428
  66. Thomas NH, Dubowitz V. The natural history of type I (severe) spinal muscular atrophy. Neuromuscul Disord. 1994;4:497–502
  67. Lefebvre S, Burglen L, Frezal J, Munnich A, Melki J. The role of the SMN gene in proximal spinal muscular atrophy. Hum Mol Genet. 1998;7:1531–1536
  68. Rodrigues NR, Owen N, Talbot K, Ignatius J, Dubowitz V, Davies KE. Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy. Hum Mol Genet. 1995;4:631–634
  69. Kaindl AM, Guenther UP, Rudnik-Schoneborn S, et al. Spinal muscular atrophy with respiratory distress type 1 (SMARD1). J Child Neurol. 2008;23:199–204
  70. Swoboda KJ, Kissel JT, Crawford TO, et al. Perspectives on clinical trials in spinal muscular atrophy. J Child Neurol. 2007;22:957–966

PII: S1526-0542(09)00077-3

doi: 10.1016/j.prrv.2009.10.009

Paediatric Respiratory Reviews
Volume 11, Issue 1 , Pages 9-17 , March 2010