CMT2CC

CMT2CC

Axonal

Autosomal Dominant

Associated Gene

NEFH

Chromosome

22q12.2

Zygosity

Heterozygous

CMT2CC is caused by autosomal dominant mutations in the NEFH gene. CMT2CC predominantly affects the lower limbs.

CMT2CC symptoms can start to occur anywhere between early childhood and late adulthood. A CMTer who has CMT2CC will usually experience weakness and atrophy in the distal (the points farthest from the center of the body) lower limbs. This weakness and atrophy cause pes cavus (high arches) hammertoes, footdrop, and significant ankle instability. Upper limbs are generally not affected or are mildly affected.

A CMTer who has CMT2CC usually does not experience any sensory abnormalities, or only mild sensory impairment. CMT2C tends to be slowly progressive, but symptoms, progression, and severity can be widely variable.

Rev. Date

1/10/21

Sources

CMTA