eMedicine Specialties > Orthopedic Surgery > Foot & Ankle
Charcot-Marie-Tooth Disease: Multimedia
Updated: Sep 9, 2009
Multimedia
![]() | Media file 1: Foot deformities in a 16-year-old boy with Charcot-Marie-Tooth disease type 1A. |
![]() | Media file 2: Charcot-Marie-Tooth disease type 1A DNA test showing duplication in the short arm of chromosome 17 (A); compared with normal (B). |
![]() | Media file 3: Nerve conduction study showing decreased nerve conduction velocity in the median nerve in an 18-year-old woman with Charcot-Marie-Tooth disease type 1. |
More on Charcot-Marie-Tooth Disease |
| Overview: Charcot-Marie-Tooth Disease |
| Differential Diagnoses & Workup: Charcot-Marie-Tooth Disease |
| Treatment & Medication: Charcot-Marie-Tooth Disease |
| Follow-up: Charcot-Marie-Tooth Disease |
Multimedia: Charcot-Marie-Tooth Disease |
| References |
| Further Reading |
| « Previous Page |
References
Dyck PJ, Chance P, Lebo RV. Hereditary motor and sensory neuropathies. In: Dyck PJ, Thomas PK, Griffen JW, et al, eds. Peripheral Neuropathy. 3rd ed. Philadelphia, Pa: WB Saunders; 1993:1094-136.
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].
Pareyson D. Charcot-Marie-Tooth disease and related neuropathies: molecular basis for distinction and diagnosis. Muscle Nerve. Nov 1999;22(11):1498-509. [Medline].
Pareyson D, Marchesi C. Diagnosis, natural history, and management of Charcot-Marie-Tooth disease. Lancet Neurol. Jul 2009;8(7):654-67. [Medline].
Cartwright MS, Brown ME, Eulitt P, Walker FO, Lawson VH, Caress JB. Diagnostic nerve ultrasound in Charcot-Marie-Tooth disease type 1B. Muscle Nerve. Jul 2009;40(1):98-102. [Medline].
Ward CM, Dolan LA, Bennett DL, Morcuende JA, Cooper RR. 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].
Burns J, Bray P, Cross LA, North KN, Ryan MM, Ouvrier RA. Hand involvement in children with Charcot-Marie-Tooth disease type 1A. Neuromuscul Disord. Dec 2008;18(12):970-3. [Medline].
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].
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].
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].
Suter U, Nave KA. Transgenic mouse models of CMT1A and HNPP. Ann N Y Acad Sci. Sep 14 1999;883:247-53. [Medline].
Thomas PK. Overview of Charcot-Marie-Tooth disease type 1A. Ann N Y Acad Sci. Sep 14 1999;883:1-5. [Medline].
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].
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].
Vance JM. Charcot-Marie-Tooth disease type 2. Ann N Y Acad Sci. Sep 14 1999;883:42-6. [Medline].
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].
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].
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].
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].
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].
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].
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].
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].
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].
Lewis RA. The challenge of CMTX and connexin 32 mutations. Muscle Nerve. Feb 2000;23(2):147-9. [Medline].
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].
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].
Steiner I, Gotkine M, Steiner-Birmanns B, et al. Increased severity over generations of Charcot-Marie-Tooth disease type 1A. J Neurol. Apr 30 2008;[Medline].
Shy ME, Chen L, Swan ER, et al. Neuropathy progression in Charcot-Marie-Tooth disease type 1A. Neurology. Jan 29 2008;70(5):378-83. [Medline].
Spinosa MR, Progida C, De Luca A, et al. Functional characterization of Rab7 mutant proteins associated with Charcot-Marie-Tooth type 2B disease. J Neurosci. Feb 13 2008;28(7):1640-8. [Medline].
Shaffer LG, Kennedy GM, Spikes AS. 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].
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].
Coleman SS, Chesnut WJ. A simple test for hindfoot flexibility in the cavovarus foot. Clin Orthop Relat Res. Mar-Apr 1977;60-2. [Medline].
Paulos L, Coleman SS, Samuelson KM. Pes cavovarus. Review of a surgical approach using selective soft-tissue procedures. J Bone Joint Surg Am. Sep 1980;62(6):942-53. [Medline].
Weiner DS, Morscher M, Junko JT, et al. The Akron dome midfoot osteotomy as a salvage procedure for the treatment of rigid pes cavus: a retrospective review. J Pediatr Orthop. Jan-Feb 2008;28(1):68-80. [Medline].
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].
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].
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].
Ginsberg L, Malik O, Kenton AR, et al. Coexistent hereditary and inflammatory neuropathy. Brain. Jan 2004;127:193-202. [Medline]. [Full Text].
Sahenk Z, Nagaraja HN, McCracken BS, et al. NT-3 promotes nerve regeneration and sensory improvement in CMT1A mouse models and in patients. Neurology. Sep 13 2005;65(5):681-9. [Medline].
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].
Padua L, Shy ME, Aprile I, et al. Correlation between clinical/neurophysiological findings and quality of life in Charcot-Marie-Tooth type 1A. J Peripher Nerv Syst. Mar 2008;13(1):64-70. [Medline].
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].
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].
Chapon F, Latour P, Diraison P. 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].
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].
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].
Garcia CA. A clinical review of Charcot-Marie-Tooth. Ann N Y Acad Sci. Sep 14 1999;883:69-76. [Medline].
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].
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].
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].
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].
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].
Keller MP, Chance PF. Inherited neuropathies: from gene to disease. Brain Pathol. Apr 1999;9(2):327-41. [Medline].
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].
Lewis RA, Sumner AJ. Electrophysiologic features of inherited demyelinating neuropathies: a reappraisal. Ann N Y Acad Sci. Sep 14 1999;883:321-35. [Medline].
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].
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].
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].
Nicholson G, Nash J. Intermediate nerve conduction velocities define X-linked Charcot-Marie- Tooth neuropathy families. Neurology. Dec 1993;43(12):2558-64. [Medline].
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].
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].
Quattrone A, Gambardella A, Bono F. 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].
Shy ME, Jáni A, Krajewski K, et al. Phenotypic clustering in MPZ mutations. Brain. Feb 2004;127(Pt 2):371-84. [Medline]. [Full Text].
Further Reading
Related eMedicine topics
Charcot-Marie-Tooth and Other Hereditary Motor and Sensory Neuropathies
Charcot-Marie-Tooth Disease [Physical Medicine and Rehabilitation]
Hereditary Neuropathies of the Charcot-Marie-Tooth Disease Type
Clinical trials
Effects of Coenzyme Q10 on Charcot-Marie-Tooth Disease
Keywords
Charcot-Marie-Tooth, CMT, CMT 1, CMT 2, hereditary motor and sensory neuropathy, HMSN, peroneal muscular atrophy, PMA, peroneal progressive muscular atrophy, peroneal muscular atrophy with thickened nerves, Hoffman disease, Charcot-Marie-Tooth-Hoffman disease






Multimedia: Charcot-Marie-Tooth Disease