CMT2W

CMT2W

Axonal

Autosomal Dominant

Associated Gene

HARS1

Chromosome

5q31.3

Zygosity

Heterozygous

CMT2W is caused by autosomal dominant mutations in the HARS1 gene.

CMT2W is fairly rare. Symptom onset is highly variable, and even within the same family. CMT2W symptoms can start to occur anywhere between early childhood and late adulthood.

CMTers who have CMT2W will usually experience walking difficulties, steppage gait (a type of walking gait in which the CMTer subconsciously picks up their leg in order for the toes to clear the walking surface—steppage gait is very common when footdrop is present), or foot deformities. Some CMTers who have CMT2W might also experience significant pain or hand weakness.

CMTers who have CMT2W will usually experience the classic CMT symptoms of pes cavus (high arches), hammer toes, and distal (points farthest from the center of the body) sensory impairment.

Rev. Date

1/10/21

Sources

CMTA
INC