What is X-linked Charcot-Marie-Tooth (CMT) disease type 1?

Updated: Feb 19, 2019
  • Author: Francisco de Assis Aquino Gondim, MD, PhD, MSc, FAAN; Chief Editor: Nicholas Lorenzo, MD, MHA, CPE  more...
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Answer

Answer

In men, symptoms typically begin in childhood or adolescence. CMTX1 may have asymmetric features. Women are often asymptomatic, but they may have late onset of mild symptoms. Rarely, they may have more severe disease, probably because of predominant inactivation of the X chromosome that bears the normal CX32 allele.

According to a large series, atrophy, particularly of intrinsic hand muscles; paresthesias; and sensory loss may be more common in CMTX1 than other subtypes.

The nomenclature reflects the fact that conduction is often not as slow as in CMT1A and CMT1B and that a second CMT locus must exist on the X chromosome because some pedigrees do not have a mutation in the CX32 gene.


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