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Review

Charcot-Marie-Tooth Hereditary Neuropathy Overview

Thomas D Bird  1
Margaret P Adam, Sarah Bick, 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.

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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