Medscape is available in 5 Language Editions – Choose your Edition here.


Charcot-Marie-Tooth Disease Treatment & Management

  • Author: Divakara Kedlaya, MBBS; Chief Editor: Vinod K Panchbhavi, MD, FACS  more...
Updated: Mar 14, 2016

Approach Considerations

Charcot-Marie-Tooth (CMT) disease continues to be an incurable condition. Patients should be evaluated and treated symptomatically in a multidisciplinary approach by a team that includes the following[41] :

  • Neurologist
  • Physiatrist
  • Orthopedic surgeon
  • Physical therapist
  • Occupational therapist
  • Orthotists
  • Mental health provider
  • Genetic counselor

This approach is crucial for improving the quality of life of CMT patients.[42]  Specialists in neurogenetics may be consulted to order specific genetic tests and proper genetic counseling.


Medical Therapy

Currently, no medical treatment exists to reverse or slow the natural disease process for the underlying disorder. Nothing can correct the abnormal myelin, prevent its degeneration, or prevent axonal degeneration.[43] Improved understanding of the genetics and biochemistry of the disorder offers hope for an eventual treatment.


Surgical Therapy

Orthopedic surgery is required to correct severe pes cavus deformities, scoliosis, and other joint deformities. Treatment is determined by the age of the patient and the cause and severity of the deformity.

Surgical procedures consist of the following three types:

  • Soft-tissue procedures (plantar fascia release, tendon release or transfer)
  • Osteotomy (metatarsal, midfoot, calcaneal)
  • Joint-stabilizing procedures (triple arthrodesis)

Procedures are usually staged. The initial procedure is a radical plantar or plantar-medial release-plantar fasciotomy, with a dorsal closing-wedge osteotomy of the first metatarsal base if necessary. Tendo calcaneus lengthening should not be performed as part of the initial procedure, because the force used to dorsiflex the forefoot causes the calcaneus to dorsiflex into an unacceptable position.

If the hindfoot is flexible and a posterior release is not necessary, posterior tibial tendon transfer can be done as part of the initial procedure for severe anterior tibial weakness.[44] . In a prospective study of 14 patients with CMT disease who had cavovarus foot deformity, Dreher et al found that tibialis posterior tendon transfer was effective at correcting the foot-drop component of cavovarus foot deformity; the transfer apparently worked as an active substitution.[45]

When the hindfoot is flexible, early aggressive treatment with soft-tissue releases can delay the need for more extensive reconstructive procedures. The Jones procedure includes transfer of the extensor hallucis longus tendon to the first metatarsal head and arthrodesis of the interphalangeal joint of the great toe.

A review paper by Faldini et al concluded that plantar fasciotomy, midtarsal osteotomy, the Jones procedure, and dorsiflexion osteotomy of the first metatarsal yielded adequate correction of flexible cavus feet in patients with CMT disease in the absence of fixed hindfoot deformity.[46]  

The Coleman block test is sometimes used to help decide what type of surgery is best. In cases of cavovarus deformity, this test evaluates hindfoot flexibility.[47] The Coleman block test is performed by placing the patient's foot on a wood block that is 2.5-4 cm thick, with the heel and lateral border of the foot on the block and bearing full weight while the first, second, and third metatarsals are allowed to hang freely into plantarflexion and pronation.

If heel varus corrects while the patient is standing on the block, the hindfoot is considered flexible. If the subtalar joint is supple and corrects with the block test, then surgical procedures may be directed at correcting forefoot pronation, which is usually due to plantarflexion of the first metatarsal. If the hindfoot is rigid, then surgical correction of the forefoot and hindfoot is required.

Triple arthrodesis serves as a salvage procedure for patients in whom other procedures have been unsuccessful, as well as in patients with untreated fixed deformities.

Children younger than 8 years with supple hindfeet usually respond to plantar releases and appropriate tendon transfers. A first metatarsal osteotomy may be needed in some cases.

Children younger than 12 years with rigid hindfoot deformities may need radical plantar-medial release, first metatarsal osteotomy, and Dwyer lateral closing-wedge osteotomy of the calcaneus to correct the deformities.

In the early 1970s, the Akron dome osteotomy was developed as a salvage surgical option to manage rigid cavus deformity of the foot. In a retrospective study, Weiner et al showed that this operation is a valuable salvage procedure in the management of the rigid cavus deformity in children with CMT disease.[48]

Wukich and Bowen reported that only 14% of patients with CMT disease required triple arthrodesis.[49] They also reported hindfoot stability with triple arthrodesis, and when the posterior tibial tendon was transferred anteriorly, this eliminated the need for a postoperative drop-foot brace. They reported good or excellent results in 88% of patients who were treated with this method.

Ward et al studied the long-term results of surgical reconstruction procedures for cavovarus foot deformity in 25 patients with CMT disease who had undergone the procedure between 1970 and 1994 and were evaluated at a mean follow-up of 26.1 years.[50] The authors found that the use of soft-tissue procedures and first metatarsal osteotomy resulted in lower rates of degenerative changes and reoperations in comparison with results obtained with triple arthrodesis.

Generally, spinal deformities in children with CMT disease can be treated with the same techniques used for idiopathic scoliosis.



Regular and proper follow-up and therapeutic interventions are necessary to avoid joint contractures and deformities.

Proper genetic counseling helps parents to understand the risk of having children with this disorder and gives them a chance to make informed decisions regarding pregnancy.[19, 32]

A study of mitochondrial data from 442 patients suggested that MT-ATP6 mutations are an important cause of CMT disease and can be evaluated with a simple blood test.[51]


Long-Term Monitoring

Patients should have regular follow-up visits to check for deterioration in function and the development of contractures. This follow-up allows early detection of complications. Proper interventions early in the disease course help to avoid significant and permanent functional limitations.[33]

Contributor Information and Disclosures

Divakara Kedlaya, MBBS Clinical Associate Professor, Department of Physical Medicine and Rehabilitation, Loma Linda University School of Medicine; Medical Director, Physical Medicine and Rehabilitation and Pain Management, St Mary Corwin Medical Center

Divakara Kedlaya, MBBS is a member of the following medical societies: American Academy of Physical Medicine and Rehabilitation, Colorado Medical Society, American Association of Neuromuscular and Electrodiagnostic Medicine

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Chief Editor

Vinod K Panchbhavi, MD, FACS Professor of Orthopedic Surgery, Chief, Division of Foot and Ankle Surgery, Director, Foot and Ankle Fellowship Program, Department of Orthopedics, University of Texas Medical Branch School of Medicine

Vinod K Panchbhavi, MD, FACS is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American College of Surgeons, American Orthopaedic Association, American Orthopaedic Foot and Ankle Society, Orthopaedic Trauma Association, Texas Orthopaedic Association

Disclosure: Serve(d) as a speaker or a member of a speakers bureau for: Styker.

Additional Contributors

James K DeOrio, MD Associate Professor of Orthopedic Surgery, Duke University School of Medicine

James K DeOrio, MD is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American Orthopaedic Foot and Ankle Society

Disclosure: Received royalty from Merete for other; Received royalty from SBi for other; Received royalty from BioPro for other; Received honoraria from Acumed, LLC for speaking and teaching; Received honoraria from Wright Medical Technology, Inc for speaking and teaching; Received honoraria from SBI for speaking and teaching; Received honoraria from Integra for speaking and teaching; Received honoraria from Datatrace Publishing for speaking and teaching; Received honoraria from Exactech, Inc for speaking a.

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

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

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

  4. Pareyson D, Marchesi C. Diagnosis, natural history, and management of Charcot-Marie-Tooth disease. Lancet Neurol. 2009 Jul. 8(7):654-67. [Medline].

  5. Kazamel M, Boes CJ. Charcot Marie Tooth disease (CMT): historical perspectives and evolution. J Neurol. 2015. 262 (4):801-5. [Medline].

  6. Jani-Acsadi A, Ounpuu S, Pierz K, Acsadi G. Pediatric Charcot-Marie-Tooth disease. Pediatr Clin North Am. 2015 Jun. 62 (3):767-86. [Medline].

  7. Baets J, De Jonghe P, Timmerman V. Recent advances in Charcot-Marie-Tooth disease. Curr Opin Neurol. 2014 Oct. 27 (5):532-40. [Medline].

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

  9. 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. 1995 Sep-Oct. 74(5 Suppl):S140-9. [Medline].

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

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

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

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

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

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

  16. 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. 1993 Oct. 2(10):1625-8. [Medline].

  17. 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. 2000 May. 25(1):17-9. [Medline].

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

  19. Steiner I, Gotkine M, Steiner-Birmanns B, et al. Increased severity over generations of Charcot-Marie-Tooth disease type 1A. J Neurol. 2008 Apr 30. [Medline].

  20. Shy ME, Chen L, Swan ER, et al. Neuropathy progression in Charcot-Marie-Tooth disease type 1A. Neurology. 2008 Jan 29. 70(5):378-83. [Medline].

  21. 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. 2008 Feb 13. 28(7):1640-8. [Medline].

  22. 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. 2000 Apr 25. 54(8):1696-8. [Medline].

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

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

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

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

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

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

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

  30. Braathen GJ. Genetic epidemiology of Charcot-Marie-Tooth disease. Acta Neurol Scand Suppl. 2012. iv-22. [Medline].

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

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

  33. 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. 2008 Mar. 13(1):64-70. [Medline].

  34. 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. 2008 Dec. 18(12):970-3. [Medline].

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

  36. Berciano J, Gallardo E, Garcia A, et al. New insights into the pathophysiology of pes cavus in Charcot-Marie-Tooth disease type 1A duplication. J Neurol. 2011 May 18. [Medline].

  37. 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. 1997 Mar 31. 69(3):325-31. [Medline].

  38. 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. 1999 Sep 14. 883:234-46. [Medline].

  39. Cartwright MS, Brown ME, Eulitt P, Walker FO, Lawson VH, Caress JB. Diagnostic nerve ultrasound in Charcot-Marie-Tooth disease type 1B. Muscle Nerve. 2009 Jul. 40(1):98-102. [Medline].

  40. Gaeta M, Mileto A, Mazzeo A, et al. MRI findings, patterns of disease distribution, and muscle fat fraction calculation in five patients with Charcot-Marie-Tooth type 2 F disease. Skeletal Radiol. 2011 May 25. [Medline].

  41. McCorquodale D, Pucillo EM, Johnson NE. Management of Charcot-Marie-Tooth disease: improving long-term care with a multidisciplinary approach. J Multidiscip Healthc. 2016. 9:7-19. [Medline].

  42. Mathis S, Magy L, Vallat JM. Therapeutic options in Charcot-Marie-Tooth diseases. Expert Rev Neurother. 2015 Apr. 15 (4):355-66. [Medline].

  43. Pareyson D, Reilly MM, Schenone A, et al. Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial. Lancet Neurol. 2011 Apr. 10(4):320-8. [Medline].

  44. Coleman SS, Chesnut WJ. A simple test for hindfoot flexibility in the cavovarus foot. Clin Orthop Relat Res. 1977 Mar-Apr. 60-2. [Medline].

  45. Dreher T, Wolf SI, Heitzmann D, Fremd C, Klotz MC, Wenz W. Tibialis posterior tendon transfer corrects the foot drop component of cavovarus foot deformity in Charcot-Marie-Tooth disease. J Bone Joint Surg Am. 2014 Mar 19. 96 (6):456-62. [Medline].

  46. Faldini C, Traina F, Nanni M, Mazzotti A, Calamelli C, Fabbri D, et al. Surgical treatment of cavus foot in Charcot-Marie-tooth disease: a review of twenty-four cases: AAOS exhibit selection. J Bone Joint Surg Am. 2015 Mar 18. 97 (6):e30. [Medline].

  47. Paulos L, Coleman SS, Samuelson KM. Pes cavovarus. Review of a surgical approach using selective soft-tissue procedures. J Bone Joint Surg Am. 1980 Sep. 62(6):942-53. [Medline].

  48. 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. 2008 Jan-Feb. 28(1):68-80. [Medline].

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

  50. 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. 2008 Dec. 90(12):2631-42. [Medline]. [Full Text].

  51. Pitceathly RD, Murphy SM, Cottenie E, Chalasani A, Sweeney MG, Woodward C, et al. Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease. Neurology. 2012 Sep 11. 79(11):1145-54. [Medline].

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

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

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

  55. Sahenk Z, Nagaraja HN, McCracken BS, et al. NT-3 promotes nerve regeneration and sensory improvement in CMT1A mouse models and in patients. Neurology. 2005 Sep 13. 65(5):681-9. [Medline].

  56. 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. 2004 Apr. 10(4):396-401. [Medline].

Foot deformities in a 16-year-old boy with Charcot-Marie-Tooth disease type 1A.
Charcot-Marie-Tooth disease type 1A DNA test showing duplication in the short arm of chromosome 17 (A); compared with normal (B).
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.
Table 1. Charcot-Marie-Tooth Disorders: Genetic and Clinical Feature Comparison
CMT Type Chromosome; Inheritance Pattern Age of Onset Clinical Features Average NCVs§
CMT 1A (PMP-22 dupl.) 17p11; AD* First decade Distal weakness 15-20 m/s
CMT 1B (P0 -MPZ)** 1q22; AD First decade Distal weakness <20 m/s
CMT 1C (non A, non B) 16p13;AD Second decade Distal weakness 26-42 m/s
CMT 1D (early growth response [EGR]–2)#[[22] 24] 10q21; AD First decade Distal weakness 15-20 m/s
CMT 1E 17p11; AD First decade Distal weakness, deafness 15-20 m/s
CMT 1F 8p21; AD First decade Distal weakness 15-20 m/s
CMT X (Connexin-32)[23, 24, 25, 26, 27] Xq13; XD Second decade Distal weakness 25-40 m/s
CMT 2A 1p36; AD 10 y Distal weakness >38 m/s
CMT 2B 3q; AD Second decade Distal weakness,

sensory loss, skin ulcers

Axon loss; Normal
CMT 2C 12q23-q24, AD First decade Vocal cord, diaphragm, and

distal weakness

>50 m/s
CMT 2D 7p14; AD 16-30 y Distal weakness, upper limb predominantly Axon loss; N††
CMT 2E 8p21; AD 10-30 y Distal weakness, lower limb predominantly Axon loss; N
CMT 2F 7q11-q21; AD 15-25 y Distal weakness Axon loss; N
CMT 2G 12q12-q13; ?AD 9-76 y Distal weakness Axon loss; N
CMT 2H ?; AR 15-25 y Distal weakness, Pyramidal features Axon loss; N
CMT 2I 1q22; AD 47-60 y Distal weakness Axon loss; N
CMT 2J 1q22; AD 40-50 y Distal weakness, hearing loss Axon loss; N
CMT 2K 8q13-q21; AR <4 y Distal weakness Axon loss; N
CMT 2L 12q24; AD 15-25 y Distal weakness Axon loss; N
CMT R-Ax (Ouvrier) AR First decade Distal weakness Axon loss; N
CMT R-Ax (Moroccan) 1q21; AR Second decade Distal weakness Axon loss; N
Cowchock syndrome Xq24-q26 First decade Distal weakness, deafness, mental retardation Axon loss; N
HNPP|| (PMP-22)

Or tomaculous neuropathy

17p11; AD All ages Episodic weakness and numbness Conduction Blocks
Dejerine-Sottas syndrome (DSS) or hereditary motor and sensory neuropathy (HMSN) 3 P0; AR

PMP-22; AD

8q23; AD

2 y Severe weakness <10 m/s

hypomyelination (CH)

P0, EGR2 or PMP-22


Birth Severe weakness < 10 m/s
CMT 4A 8q13; AR Childhood Distal weakness Slow

(Myotubular in-related


11q23; AR 2-4 y Distal and proximal


CMT 4C 5q23; AR 5-15 y Delayed walking 14-32 m/s
CMT 4D (Lom)

(N-myc Downstream-

Regulated Gene 1)

8q24; AR 1-10 y Distal muscle wasting, foot and hand deformities 10-20 m/s
CMT 4E (EGR2) 10q21; AR Birth Infant hypotonia 9-20 m/s
CMT 4G 10q23.2; AR 8-16 years Distal weakness 9-20 m/s
CMT 4H 12p11.21-q13.11; AR 0-2 years Delayed walking 9-20 m/s
CMT 4F 19q13; AR 1-3 y Motor delay Absent
*Autosomal dominant

†Autosomal recessive

‡X-linked dominant

§Nerve conduction velocities

||Hereditary neuropathy with liability to pressure palsy

¶Peripheral myelin protein

#Early growth response

**Myelin protein zero


All material on this website is protected by copyright, Copyright © 1994-2016 by WebMD LLC. This website also contains material copyrighted by 3rd parties.