Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review

Charcot-Marie-Tooth Hereditary Neuropathy Overview

Thomas D Bird  1
Margaret P Adam, Jerry Feldman, Ghayda M Mirzaa, Roberta A Pagon, Stephanie E Wallace, Anne Amemiya
, editors.
In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.
[updated ].
Affiliations
Free Books & Documents
Review

Charcot-Marie-Tooth Hereditary Neuropathy Overview

Thomas D Bird.
Free Books & Documents

Excerpt

The purpose of this overview is to:

  1. 1

    Describe the clinical characteristics of CMT hereditary neuropathy;

  2. 2

    Review the causes of CMT hereditary neuropathy;

  3. 3

    Provide an evaluation strategy to identify the cause of CMT hereditary neuropathy in a proband (when possible);

  4. 4

    Review management of CMT hereditary neuropathy;

  5. 5

    Inform genetic counseling of family members of an individual with CMT hereditary neuropathy.

PubMed Disclaimer

Similar articles

  • Charcot-Marie-Tooth Neuropathy Type 2 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY.
    Bird TD. Bird TD. 1998 Sep 24 [updated 2016 Apr 14]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 1998 Sep 24 [updated 2016 Apr 14]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301462 Free Books & Documents. Review.
  • Charcot-Marie-Tooth Neuropathy Type 4 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY.
    Bird TD. Bird TD. 1998 Sep 24 [updated 2016 Apr 14]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 1998 Sep 24 [updated 2016 Apr 14]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301641 Free Books & Documents. Review.
  • Charcot-Marie-Tooth Neuropathy Type 1 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY.
    Bird TD. Bird TD. 1998 Aug 31 [updated 2015 Mar 26]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 1998 Aug 31 [updated 2015 Mar 26]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301384 Free Books & Documents. Review.
  • Genetic epidemiology of Charcot-Marie-Tooth disease.
    Braathen GJ. Braathen GJ. Acta Neurol Scand Suppl. 2012;(193):iv-22. doi: 10.1111/ane.12013. Acta Neurol Scand Suppl. 2012. PMID: 23106488
  • SH3TC2-Related Hereditary Motor and Sensory Neuropathy.
    Azzedine H, Salih MA. Azzedine H, et al. 2008 Mar 31 [updated 2021 Mar 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2008 Mar 31 [updated 2021 Mar 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301514 Free Books & Documents. Review.
See all similar articles

References

    1. Azevedo H, Pupe C, Pereira R, Nascimento OJM. Pain in Charcot-Marie-Tooth disease: an update. Arq Neuropsiquiatr. 2018;76:273-6. - PubMed
    1. Bansagi B, Griffin H, Whittaker RG, Antoniadi T, Evangelista T, Miller J, Greenslade M, Forester N, Duff J, Bradshaw A, Kleinle S, Boczonadi V, Steele H, Ramesh V, Franko E, Pyle A, Lochmüller H, Chinnery PF, Horvath R. Genetic heterogeneity of motor neuropathies. Neurology. 2017;88:1226-34 - PMC - PubMed
    1. Beijer D, Dohrn MF, Rebelo A, Danzi MC, Grosz BR, Ellis M, Kumar KR, Vucic S, Vais H, Weissenrieder JS, Lunko O, Paudel U, Simpson LC, Raposo J, Saporta M, Arcia Y, Xu I, Feely S, Record CJ, Blake J, Reilly MM, Scherer S, Kennerson M, Lee YC, Foskett JK, Shy M, Zuchner S. A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity. Brain. 2025;148:227-37. - PMC - PubMed
    1. Brewer MH, Chaudhry R, Qi J, Kidambi A, Drew AP, Menezes MP, Ryan MM, Farrar MA, Mowat D, Subramanian GM, Young HK, Zuchner S, Reddel SW, Nicholson GA, Kennerson ML. Whole genome sequencing identifies a 78 kb insertion from chromosome 8 as the cause of Charcot-Marie-Tooth neuropathy CMTX3. PLoS Genet. 2016;12:e1006177 - PMC - PubMed
    1. Burns J, Ramchandren S, Ryan MM, Shy M, Ouvrier RA. Determinants of reduced health-related quality of life in pediatric inherited neuropathies. Neurology. 2010;75:726–31. - PMC - PubMed