CMT2Q is caused by autosomal dominant mutations in the DHTKD1 gene. To date, CMT2Q has been identified in only one family.
CMT2Q symptoms start to occur anywhere between early childhood to early adulthood. All CMTers in this 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.