Charcot-Marie-Tooth Disease: Multimedia

References

1. Krajewski KM, Lewis RA, Fuerst DR, et al. Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A. Brain. Jul 2000;123 Pt 7:1516-27. [Medline]. [Full Text].

2. Holmes JR, Hansen ST Jr. Foot and ankle manifestations of Charcot-Marie-Tooth disease. Foot Ankle. Oct 1993;14(8):476-86. [Medline].

3. Burns J, Ryan MM, Ouvrier RA. Evolution of foot and ankle manifestations in children with CMT1A. Muscle Nerve. Feb 2009;39(2):158-66. [Medline].

4. van Pomeren M, Selles RW, van Ginneken BT, et al. The hypothesis of overwork weakness in Charcot-Marie-Tooth: a critical evaluation. J Rehabil Med. Jan 2009;41(1):32-4. [Medline].

5. Burns J, Bray P, Cross LA, et al. Hand involvement in children with Charcot-Marie-Tooth disease type 1A. Neuromuscul Disord. Dec 2008;18(12):970-3. [Medline].

6. Kousseff BG, Hadro TA, Treiber DL, et al. Charcot-Marie-Tooth disease with sensorineural hearing loss--an autosomal dominant trait. Birth Defects Orig Artic Ser. 1982;18(3B):223-8. [Medline].

7. Stojkovic T, Latour P, Vandenberghe A, et al. Sensorineural deafness in X-linked Charcot-Marie-Tooth disease with connexin 32 mutation (R142Q). Neurology. Mar 23 1999;52(5):1010-4. [Medline].

8. Birouk N, LeGuern E, Maisonobe T, et al. X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: clinical and electrophysiologic study. Neurology. Apr 1998;50(4):1074-82. [Medline].

9. Elliott JL, Kwon JM, Goodfellow PJ, et al. Hereditary motor and sensory neuropathy IIB: clinical and electrodiagnostic characteristics. Neurology. Jan 1997;48(1):23-8. [Medline].

10. England JD, Garcia CA. Electrophysiological studies in the different genotypes of Charcot- Marie-Tooth disease. Curr Opin Neurol. Oct 1996;9(5):338-42. [Medline].

11. Gutierrez A, England JD, Sumner AJ, et al. Unusual electrophysiological findings in X-linked dominant Charcot-Marie-Tooth disease. Muscle Nerve. Feb 2000;23(2):182-8. [Medline].

12. Lewis RA, Sumner AJ. Electrophysiologic features of inherited demyelinating neuropathies: a reappraisal. Ann N Y Acad Sci. Sep 14 1999;883:321-35. [Medline].

13. Quattrone A, Gambardella A, Bono F, et al. Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths: clinical, electrophysiologic, and genetic aspects of a large family. Neurology. May 1996;46(5):1318-24. [Medline].

14. Njegovan ME, Leonard EI, Joseph FB. Rehabilitation medicine approach to Charcot-Marie-Tooth disease. Clin Podiatr Med Surg. Jan 1997;14(1):99-116. [Medline].

15. Ward CM, Dolan LA, Bennett DL, et al. Long-term results of reconstruction for treatment of a flexible cavovarus foot in Charcot-Marie-Tooth disease. J Bone Joint Surg Am. Dec 2008;90(12):2631-42. [Medline].

16. Graf WD, Chance PF, Lensch MW, et al. Severe vincristine neuropathy in Charcot-Marie-Tooth disease type 1A. Cancer. Apr 1 1996;77(7):1356-62. [Medline].

17. Kuruvilla G, Perry S, Wilson B, et al. The natural history of vincristine-induced laryngeal paralysis in children. Arch Otolaryngol Head Neck Surg. Jan 2009;135(1):101-5. [Medline].

18. Dyck PJ, Swanson CJ, Low PA, et al. Prednisone-responsive hereditary motor and sensory neuropathy. Mayo Clin Proc. Apr 1982;57(4):239-46. [Medline].

19. Ginsberg L, Malik O, Kenton AR, et al. Coexistent hereditary and inflammatory neuropathy. Brain. Jan 2004;127:193-202. [Medline]. [Full Text].

20. Passage E, Norreel JC, Noack-Fraissignes P, et al. Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease. Nat Med. Apr 2004;10(4):396-401. [Medline].

21. Shy ME, Blake J, Krajewski K, et al. Reliability and validity of the CMT neuropathy score as a measure of disability. Neurology. Apr 12 2005;64(7):1209-14. [Medline].

22. Anderson TJ, Klugmann M, Thomson CE, et al. Distinct phenotypes associated with increasing dosage of the PLP gene: implications for CMT1A due to PMP22 gene duplication. Ann N Y Acad Sci. Sep 14 1999;883:234-46. [Medline].

23. Auer-Grumbach M, Wagner K, Strasser-Fuchs S, et al. Clinical predominance of proximal upper limb weakness in CMT1A syndrome. Muscle Nerve. Aug 2000;23(8):1243-9. [Medline].

24. Ben Othmane K, Hentati F, Lennon F, et al. Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q. Hum Mol Genet. Oct 1993;2(10):1625-8. [Medline].

25. Berciano J, Combarros O, Figols J, et al. Hereditary motor and sensory neuropathy type II. Clinicopathological study of a family. Brain. Oct 1986;109 ( Pt 5):897-914. [Medline].

26. Bergoffen J, Scherer SS, Wang S, et al. Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science. Dec 24 1993;262(5142):2039-42. [Medline].

27. Bird TD, Ott J, Giblett ER, et al. Genetic linkage evidence for heterogeneity in Charcot-Marie-Tooth neuropathy (HMSN type I). Ann Neurol. Dec 1983;14(6):679-84. [Medline].

28. Bolino A, Muglia M, Conforti FL, et al. Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. Nat Genet. May 2000;25(1):17-9. [Medline].

29. Bone LJ, Dahl N, Lensch MW, et al. New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease. Neurology. Oct 1995;45(10):1863-6. [Medline].

30. Bornemann A, Hansen FJ, Schmalbruch H. Nerve and muscle biopsy in a case of hereditary motor and sensory neuropathy type III with basal lamina onion bulbs. Neuropathol Appl Neurobiol. Feb 1996;22(1):77-81. [Medline].

31. Carter GT, Abresch RT, Fowler WM, et al. Profiles of neuromuscular diseases. Hereditary motor and sensory neuropathy, types I and II. Am J Phys Med Rehabil. Sep-Oct 1995;74(5 Suppl):S140-9. [Medline].

32. Carter GT, Jensen MP, Galer BS, et al. Neuropathic pain in Charcot-Marie-Tooth disease. Arch Phys Med Rehabil. Dec 1998;79(12):1560-4. [Medline].

33. Chapon F, Latour P, Diraison P, et al. Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene. J Neurol Neurosurg Psychiatry. Jun 1999;66(6):779-82. [Medline]. [Full Text].

34. Dyck PJ, Chance P, Lebo RV. Hereditary motor and sensory neuropathies. In: Dyck PJ, Thomas PK, Griffen JW, et al, eds. Peripheral Neuropathy. 3^rd ed. Saunders; 1993:1094-136.

35. Dyck PJ, Karnes JL, Lambert EH. Longitudinal study of neuropathic deficits and nerve conduction abnormalities in hereditary motor and sensory neuropathy type 1. Neurology. Oct 1989;39(10):1302-8. [Medline].

36. Gambardella A, Bolino A, Muglia M, et al. Genetic heterogeneity in autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B). Neurology. Mar 1998;50(3):799-801. [Medline].

37. Garcia CA. A clinical review of Charcot-Marie-Tooth. Ann N Y Acad Sci. Sep 14 1999;883:69-76. [Medline].

38. Hassel B. Improvement of muscle function in Charcot-Marie-Tooth disease by transcutaneous electric nerve stimulation. Muscle Nerve. Feb 1998;21(2):267-8. [Medline].

39. Hayasaka K, Himoro M, Sato W, et al. Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene. Nat Genet. Sep 1993;5(1):31-4. [Medline].

40. Hoff JM, Gilhus NE, Daltveit AK. Pregnancies and deliveries in patients with Charcot-Marie-Tooth disease. Neurology. Feb 8 2005;64(3):459-62. [Medline].

41. Ionasescu VV, Ionasescu R, Searby C, et al. Dejerine-Sottas disease with de novo dominant point mutation of the PMP22 gene. Neurology. Sep 1995;45(9):1766-7. [Medline].

42. Kamholz J, Menichella D, Jani A, et al. Charcot-Marie-Tooth disease type 1: molecular pathogenesis to gene therapy. Brain. Feb 2000;123 ( Pt 2):222-33. [Medline]. [Full Text].

43. Keller MP, Chance PF. Inherited neuropathies: from gene to disease. Brain Pathol. Apr 1999;9(2):327-41. [Medline].

44. Kurihara S, Adachi Y, Wada K, et al. An epidemiological genetic study of Charcot-Marie-Tooth disease in Western Japan. Neuroepidemiology. Sep-Oct 2002;21(5):246-50. [Medline].

45. Lewis RA. The challenge of CMTX and connexin 32 mutations. Muscle Nerve. Feb 2000;23(2):147-9. [Medline].

46. Marrosu MG, Vaccargiu S, Marrosu G, et al. A novel point mutation in the peripheral myelin protein 22 (PMP22) gene associated with Charcot-Marie-Tooth disease type 1A. Neurology. Feb 1997;48(2):489-93. [Medline].

47. Marrosu MG, Vaccargiu S, Marrosu G, et al. Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene. Neurology. May 1998;50(5):1397-401. [Medline].

48. Morocutti C, Colazza GB, Soldati G, et al. Charcot-Marie-Tooth disease in Molise, a central-southern region of Italy: an epidemiological study. Neuroepidemiology. Sep-Oct 2002;21(5):241-5. [Medline].

49. Nelis E, Timmerman V, De Jonghe P, et al. Molecular genetics and biology of inherited peripheral neuropathies: a fast-moving field. Neurogenetics. Sep 1999;2(3):137-48. [Medline].

50. Nicholson G, Nash J. Intermediate nerve conduction velocities define X-linked Charcot-Marie- Tooth neuropathy families. Neurology. Dec 1993;43(12):2558-64. [Medline].

51. Nicholson GA. Penetrance of the hereditary motor and sensory neuropathy Ia mutation: assessment by nerve conduction studies. Neurology. Apr 1991;41(4):547-52. [Medline].

52. Nicholson GA. The dominantly inherited motor and sensory neuropathies: clinical and molecular advances. Muscle Nerve. May 2006;33(5):589-97. [Medline].

53. Nicholson SM, Ressot C, Gomes D, et al. Connexin32 in the peripheral nervous system. Functional analysis of mutations associated with X-linked Charcot-Marie-Tooth syndrome and implications for the pathophysiology of the disease. Ann N Y Acad Sci. Sep 14 1999;883:168-85. [Medline].

54. Pareyson D. Charcot-Marie-Tooth disease and related neuropathies: molecular basis for distinction and diagnosis. Muscle Nerve. Nov 1999;22(11):1498-509. [Medline].

55. Pareyson D, Taroni F, Botti S, et al. Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation. Neurology. Apr 25 2000;54(8):1696-8. [Medline].

56. Shaffer LG, Kennedy GM, Spikes AS, et al. Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: implications for testing in the cytogenetics laboratory. Am J Med Genet. Mar 31 1997;69(3):325-31. [Medline].

57. Shy ME. Charcot-Marie-Tooth disease: an update. Curr Opin Neurol. Oct 2004;17(5):579-85. [Medline].

58. Shy ME, Jani A, Krajewski K, et al. Phenotypic clustering in MPZ mutations. Brain. Feb 2004;127(Pt 2):371-84. [Medline]. [Full Text].

59. Suter U, Nave KA. Transgenic mouse models of CMT1A and HNPP. Ann N Y Acad Sci. Sep 14 1999;883:247-53. [Medline].

60. Thomas PK. Overview of Charcot-Marie-Tooth disease type 1A. Ann N Y Acad Sci. Sep 14 1999;883:1-5. [Medline].

61. Vance JM. Charcot-Marie-Tooth disease type 2. Ann N Y Acad Sci. Sep 14 1999;883:42-6. [Medline].

62. Wukich DK, Bowen JR. A long-term study of triple arthrodesis for correction of pes cavovarus in Charcot-Marie-Tooth disease. J Pediatr Orthop. Jul-Aug 1989;9(4):433-7. [Medline].

Further Reading

Keywords

Charcot-Marie-Tooth disease, Charcot Marie Tooth, Charcot Marie Tooth disease, neuropathy, Charcot, Charcot Marie, pes cavus, connexin, Charcot Marie Tooth syndrome, hereditary motor sensory neuropathy, HMSN, peroneal muscular atrophy, PMA, CMT

Contributor Information and Disclosures

Author

Divakara Kedlaya, MBBS, Clinical Associate Professor, Department of Physical Medicine and Rehabilitation, Loma Linda University School of Medicine
Divakara Kedlaya, MBBS is a member of the following medical societies: American Academy of Physical Medicine and Rehabilitation, American Association of Neuromuscular and Electrodiagnostic Medicine, American Paraplegia Society, and Colorado Medical Society
Disclosure: Nothing to disclose.

Medical Editor

Milton J Klein, DO, MBA, Consulting Physiatrist, Sewickley Valley Hospital, Allegheny General Hospital, Harmarville Rehabilitation Center, Ohio Valley General Hospital, and Aliquippa Community Hospital
Milton J Klein, DO, MBA is a member of the following medical societies: American Academy of Disability Evaluating Physicians, American Academy of Medical Acupuncture, American Academy of Osteopathy, American Academy of Physical Medicine and Rehabilitation, American Medical Association, American Osteopathic Association, American Osteopathic College of Physical Medicine and Rehabilitation, American Pain Society, and Pennsylvania Medical Society
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: Nothing to disclose.

Managing Editor

Michael T Andary, MD, MS, Residency Program Director, Professor, Department of Physical Medicine and Rehabilitation, Michigan State University College of Osteopathic Medicine
Michael T Andary, MD, MS is a member of the following medical societies: American Academy of Physical Medicine and Rehabilitation, American Association of Neuromuscular and Electrodiagnostic Medicine, American Medical Association, and Association of Academic Physiatrists
Disclosure: allergan Honoraria Speaking and teaching

CME Editor

Kelly L Allen, MD, Regional Medical Director, IMX-Medical Management Services
Disclosure: Nothing to disclose.

Chief Editor

Robert H Meier III, MD, Director, Amputee Services of America; Active Medical Staff, Presbyterian/St Luke's Hospital, Spalding Rehabilitation Hospital, Select Specialty Hospital; Consulting Staff, Kindred Hospital
Robert H Meier III, MD is a member of the following medical societies: American Academy of Physical Medicine and Rehabilitation and Association of Academic Physiatrists
Disclosure: Nothing to disclose.