top of page
CMT2Q

CMT2Q

Axonal

Autosomal Dominant

Associated Gene

DHTKD1

Chromosome

10p14

Zygosity

Heterozygous

CMT2Q is caused by autosomal dominant mutations in the DHTKD1 gene. Until recently, CMT2Q had been identified in only one Chinese family since it was first identified in 2012. This is slowly changing though.

CMT2Q symptoms start to occur anywhere between early childhood to early adulthood. All CMTers in this original family experience severe lower leg atrophy and weakness resulting in “crane-like” legs, with pes cavus (high arches), difficulty walking, footdrop, and deep sensory loss. Each affected family member also experiences hand muscle atrophy and weakness. Progression is slow, and the family experiences varying degrees of severity. It is not known if CMTers outside of this original family experience the same, or will experience the same, as there is not yet enough known.

Rev. Date

7/13/21

Sources

CMTA
INC

LATEST BLOG POSTS

Error 404: Gene Not Found

SORD-Deficiency: Decoding This Newly Discovered and Confusing CMT Subtype

We All Know the Drill

Experts in CMT_Full Color_Website Logo

Detroit, Michigan, USA

All information published on this website is provided for informational and reference purposes only and should not be construed as medical advice or as a medical diagnosis. This website is not intended to replace or to substitute the opinion and advice of your physician. Always consult with your physician.

©2020 - 2025 Experts in CMT

bottom of page