Charcot Marie Tooth disease type X (CMTX): clinical features

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Charcot Marie Tooth disease type X (CMTX): clinical features. The onset is in early childhood. Fully referenced neurology checklist.

Demographic features

  • The onset is in early childhood
  • Males are affected earlier than females

Peripheral clinical features

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Central clinical features

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Recurrent stroke-like episodes

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Magnetic resonance imaging (MRI)

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Differential diagnosis: CIDP

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Acronym

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References

  1. Dubourg O, Tardieu S, Birouk N, et al. Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease. Brain 2001; 124:1958-1967.
  2. Kim HJ, Hong SH, Ki CS, et al. A novel locus for X-linked recessive CMT with deafness and optic neuropathy maps to Xq21.32-q24. Neurology 2005; 64:1964-1967.
  3. Hahn AF, Brown WF, Koopman WJ, Feasby TE. X-linked dominant hereditary motor and sensory neuropathy. Brain 1990; 113:1511-1525.
  4. Fain PR, Barker DF, Chance PF. Refined genetic mapping of X-linked Charcot-Marie-Tooth neuropathy. Am J Hum Genet 1994; 54:229-235.
  5. Yiu EM, Geevasinga N, Nicholson GA, Fagan ER, Ryan MM, Ouvrier RA. A retrospective review of X-linked Charcot-Marie-Tooth disease in childhood. Neurology 2011; 76:461-466.
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