Charcot Marie Tooth disease 2W (CMT2W)

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

Charcot Marie Tooth disease 2W (CMT2W). This is caused by mutations in the HARS on chromosome 5q. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the HARS on chromosome 5q
  • The onset is from childhood to late adulthood

Neurological features

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Foot deformities

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Acronym

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References

  1. Safka Brozkova D, Deconinck T, Griffin LB, et al. Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies. Brain 2015; 138:2161-2172.

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