The underlying genetic cause of CMTX2 has not yet been identified by scientists. However, they have narrowed down the cause to chromosome Xp22.2, and evidence strongly supports that CMTX2 is caused by a recessive mutation. Because it’s the X chromosome, the inheritance pattern of the mutation is X-Linked recessive.

CMTX2 symptom onset usually occurs in infancy. CMTers who have CMTX2 usually experience atrophy and weakness in their lower legs, areflexia, and severe foot deformities. There have also been reports of cognitive impairment. CMTX2 demonstrates both demyelinating and axonal neuropathy properties.

A trait that sets all X-Linked CMT apart from the other types of CMT is that there can be no male-to-male transmission. Also, males who have X-Linked CMT tend to be more severely affected than females who have X-Linked CMT.

CMTX2

CMTX2

Intermediate

X-Linked Recessive

Associated Gene

Gene Unknown

Chromosome

Xp22.2

Zygosity

Homozygous (Female) or Hemizygous (Male)

Rev. Date

4/29/21

Sources

CMTA