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.