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McCorquodale D, Pucillo EM, Johnson NE. Management of Charcot-Marie-Tooth disease: improving long-term care with a multidisciplinary approach. J Multidiscip Healthc. 2016;9:7-19doi: 10.2147/JMDH.S69979.
McCorquodale, D., Pucillo, E. M., & Johnson, N. E. (2016). Management of Charcot-Marie-Tooth disease: improving long-term care with a multidisciplinary approach. Journal of multidisciplinary healthcare, 97-19. https://doi.org/10.2147/JMDH.S69979
McCorquodale, Donald, et al. "Management of Charcot-Marie-Tooth disease: improving long-term care with a multidisciplinary approach." Journal of multidisciplinary healthcare vol. 9 (2016): 7-19. doi: https://doi.org/10.2147/JMDH.S69979
McCorquodale D, Pucillo EM, Johnson NE. Management of Charcot-Marie-Tooth disease: improving long-term care with a multidisciplinary approach. J Multidiscip Healthc. 2016 Jan 19;9:7-19. doi: 10.2147/JMDH.S69979. eCollection 2016. PMID: 26855581; PMCID: PMC4725690.
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J Multidiscip Healthc. 2016 Jan 19;9:7-19. doi: 10.2147/JMDH.S69979. eCollection 2016.

Management of Charcot-Marie-Tooth disease: improving long-term care with a multidisciplinary approach.

Journal of multidisciplinary healthcare

Donald McCorquodale, Evan M Pucillo, Nicholas E Johnson

Affiliations

  1. Department of Neurology, Eccles Institute of Human Genetics, University of Utah, Salt Lake City, UT, USA.

PMID: 26855581 PMCID: PMC4725690 DOI: 10.2147/JMDH.S69979

Abstract

Charcot-Marie-Tooth (CMT) disease is the most common inherited neuropathy and one of the most common inherited diseases in humans. The diagnosis of CMT is traditionally made by the neurologic specialist, yet the optimal management of CMT patients includes genetic counselors, physical and occupational therapists, physiatrists, orthotists, mental health providers, and community resources. Rapidly developing genetic discoveries and novel gene discovery techniques continue to add a growing number of genetic subtypes of CMT. The first large clinical natural history and therapeutic trials have added to our knowledge of each CMT subtype and revealed how CMT impacts patient quality of life. In this review, we discuss several important trends in CMT research factors that will require a collaborative multidisciplinary approach. These include the development of large multicenter patient registries, standardized clinical instruments to assess disease progression and disability, and increasing recognition and use of patient-reported outcome measures. These developments will continue to guide strategies in long-term multidisciplinary efforts to maintain quality of life and preserve functionality in CMT patients.

Keywords: genetic diagnosis; hereditary motor and sensory neuropathies; inherited neuropathies; longitudinal care; patient quality of life; rehabilitation

References

  1. Lung. 2007 Jan-Feb;185(1):1-7 - PubMed
  2. Clin Genet. 2016 Jan;89(1):34-43 - PubMed
  3. J Neurol. 2002 Dec;249(12):1629-50 - PubMed
  4. Neurology. 2005 Apr 12;64(7):1209-14 - PubMed
  5. Cochrane Database Syst Rev. 2010 Feb 17;(2):CD006973 - PubMed
  6. Lancet Neurol. 2009 Jun;8(6):537-44 - PubMed
  7. Ann N Y Acad Sci. 1999 Sep 14;883:490-2 - PubMed
  8. Nat Med. 2003 Dec;9(12):1533-7 - PubMed
  9. Phys Med Rehabil Clin N Am. 2012 Aug;23(3):495-563 - PubMed
  10. Acta Neurol Scand. 1987 Jan;75(1):9-12 - PubMed
  11. J Neurol Neurosurg Psychiatry. 2015 Aug;86(8):873-8 - PubMed
  12. Eur J Neurol. 2011 Jan;18(1):39-48 - PubMed
  13. Am J Hum Genet. 1993 Oct;53(4):853-63 - PubMed
  14. J Bone Joint Surg Am. 2015 Mar 18;97(6):e30 - PubMed
  15. Muscle Nerve. 2013 Apr;47(4):493-6 - PubMed
  16. Phys Med Rehabil Clin N Am. 2012 Aug;23(3):653-73 - PubMed
  17. Neuromuscul Disord. 2009 Dec;19(12):818-21 - PubMed
  18. Brain. 2000 Jul;123 ( Pt 7):1516-27 - PubMed
  19. Neuromuscul Disord. 2014 Nov;24(11):1003-17 - PubMed
  20. Arch Phys Med Rehabil. 2003 May;84(5):762-5 - PubMed
  21. Neuromuscul Disord. 2010 Dec;20(12):839-46 - PubMed
  22. N Engl J Med. 2011 Dec 15;365(24):2330-2 - PubMed
  23. Brain. 2006 Aug;129(Pt 8):2093-102 - PubMed
  24. Clin Genet. 1974;6(2):98-118 - PubMed
  25. J Genet Couns. 2013 Aug;22(4):422-36 - PubMed
  26. Arch Neurol. 1968 Jun;18(6):603-18 - PubMed
  27. J Physiother. 2014 Mar;60(1):55; discussion 55 - PubMed
  28. J Med Genet. 2010 Apr;47(4):249-56 - PubMed
  29. Ann Neurol. 2006 Feb;59(2):276-81 - PubMed
  30. Neurology. 2003 Jan 28;60(2):337-40 - PubMed
  31. Eur J Phys Rehabil Med. 2008 Dec;44(4):473-4 - PubMed
  32. Neuromuscul Disord. 2008 Dec;18(12):970-3 - PubMed
  33. Acta Clin Belg. 2006 Jul-Aug;61(4):176-81 - PubMed
  34. Am J Phys Med Rehabil. 2011 Aug;90(8):619-27 - PubMed
  35. J Neurol. 2010 Apr;257(4):646-52 - PubMed
  36. Neurology. 1993 Oct;43(10):2011-6 - PubMed
  37. J Clin Sleep Med. 2015 Mar 15;11(3):205-11 - PubMed
  38. Neurology. 1986 Sep;36(9):1200-5 - PubMed
  39. BMC Med. 2009 Nov 12;7:70 - PubMed
  40. J Foot Ankle Surg. 2015 Jul-Aug;54(4):701-8 - PubMed
  41. Exp Neurol. 2003 Dec;184(2):753-7 - PubMed
  42. PM R. 2014 Apr;6(4):342-55 - PubMed
  43. J Neurol Neurosurg Psychiatry. 2015 Jun;86(6):635-9 - PubMed
  44. Ann Neurol. 2012 May;71(5):642-52 - PubMed
  45. J Genet Couns. 2005 Aug;14(4):307-18 - PubMed
  46. Arch Phys Med Rehabil. 2015 Feb;96(2):260-8 - PubMed
  47. Phys Med Rehabil Clin N Am. 2012 Aug;23(3):675-87 - PubMed
  48. JAMA Neurol. 2013 Aug;70(8):981-7 - PubMed
  49. Mol Genet Genomic Med. 2015 Mar;3(2):143-54 - PubMed
  50. Ann Neurol. 2011 Jan;69(1):22-33 - PubMed
  51. Neurology. 2005 Sep 27;65(6):790-1 - PubMed
  52. J Neurol Neurosurg Psychiatry. 2014 Dec;85(12):1354-8 - PubMed
  53. J Neurol Neurosurg Psychiatry. 2014 Mar;85(3):319-25 - PubMed
  54. Neurology. 2005 Sep 13;65(5):681-9 - PubMed
  55. Neuroepidemiology. 2002 Sep-Oct;21(5):246-50 - PubMed
  56. Prosthet Orthot Int. 2014 Oct;38(5):387-92 - PubMed
  57. BMC Med Genet. 2010 Mar 29;11:48 - PubMed
  58. Am J Sports Med. 2008 Nov;36(11):2139-46 - PubMed
  59. Mayo Clin Proc. 1995 Jun;70(6):532-9 - PubMed
  60. Nat Med. 2004 Apr;10(4):396-401 - PubMed
  61. Neuromuscul Disord. 2014 Nov;24(11):1018-23 - PubMed
  62. Eur J Neurol. 2010 Aug;17(8):1098-104 - PubMed
  63. Mol Ther. 2014 Mar;22(3):511-21 - PubMed
  64. Neurology. 2005 Feb 8;64(3):459-62 - PubMed
  65. Ann Neurol. 2007 Jan;61(1):61-72 - PubMed
  66. J Biomed Biotechnol. 2009;2009:985415 - PubMed
  67. Acta Neurol Scand Suppl. 2012;(193):iv-22 - PubMed
  68. Eur J Phys Rehabil Med. 2008 Mar;44(1):27-31 - PubMed
  69. J Peripher Nerv Syst. 2011 Sep;16(3):191-8 - PubMed
  70. Lancet Neurol. 2011 Apr;10(4):320-8 - PubMed
  71. Brain. 2009 Dec;132(Pt 12):3252-62 - PubMed
  72. Muscle Nerve. 2008 May;37(5):601-10 - PubMed
  73. Neurol Sci. 2010 Apr;31(2):175-8 - PubMed
  74. J Peripher Nerv Syst. 2008 Sep;13(3):236-41 - PubMed
  75. Clin Rehabil. 2012 Jun;26(6):534-44 - PubMed
  76. Brain. 2006 Aug;129(Pt 8):2103-18 - PubMed
  77. Neurology. 2005 Sep 27;65(6):922-4 - PubMed
  78. Lancet. 2001 Jan 27;357(9252):267-72 - PubMed
  79. Neurol Sci. 2008 Jun;29(3):157-62 - PubMed
  80. J Neurol. 2015 May;262(5):1164-71 - PubMed
  81. Acta Myol. 2011 Oct;30(2):109-16 - PubMed
  82. AANA J. 2009 Oct;77(5):335-7 - PubMed
  83. Orphanet J Rare Dis. 2014 Dec 10;9:201 - PubMed
  84. Arch Phys Med Rehabil. 2003 Jun;84(6):825-7 - PubMed
  85. Gait Posture. 2014 Sep;40(4):481-6 - PubMed
  86. Orphanet J Rare Dis. 2015 Jun 13;10:74 - PubMed
  87. Orphanet J Rare Dis. 2014 Dec 18;9:199 - PubMed
  88. Mol Genet Genomic Med. 2014 Nov;2(6):522-9 - PubMed
  89. Neuromuscul Disord. 2008 Aug;18(8):619-25 - PubMed
  90. J Neurol Sci. 2006 Mar 15;242(1-2):47-54 - PubMed
  91. Muscle Nerve. 2012 Oct;46(4):512-9 - PubMed
  92. Neurology. 2010 Aug 24;75(8):726-31 - PubMed
  93. Arch Phys Med Rehabil. 2004 Aug;85(8):1217-23 - PubMed
  94. Curr Opin Pediatr. 2012 Feb;24(1):50-6 - PubMed
  95. Laryngoscope. 2010 Feb;120(2):291-6 - PubMed
  96. Cochrane Database Syst Rev. 2009 Jul 08;(3):CD003908 - PubMed
  97. Gait Posture. 2014;39(1):308-13 - PubMed
  98. Lancet Neurol. 2009 Dec;8(12):1103-10 - PubMed
  99. Neuromolecular Med. 2006;8(1-2):123-30 - PubMed
  100. Neurology. 2011 May 17;76(20):1690-6 - PubMed
  101. Neuromuscul Disord. 2008 Mar;18(3):199-203 - PubMed
  102. J Neurol. 2011 Jul;258(7):1234-9 - PubMed

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