CMT2P

CMT2P

Axonal

Autosomal Dominant or Recessive

Associated Gene

LRSAM1

Chromosome

9q33.3-q34.1

Zygosity

Can Be Heterozygous or Homozygous

CMT2P is caused by autosomal dominant and autosomal recessive mutations in the LRSAM1 gene. CMT2P was formerly called CMT2G.

CMT2P symptoms usually start in the CMTers teens and by the CMTer’s 20s. CMTers with CMT2P will usually experience a somewhat mild type of CMT that is slowly progressive over time. In addition to the classic CMT symptoms of lower leg weakness, atrophy, and sensory loss, CMTers who have CMT2P can experience weakness, atrophy, and sensory loss in the hands. Additionally, some male CMTers who have CMT2P might experience varying degrees of erectile dysfunction. Fasciculations (random and involuntary muscle twitching just beneath the skin) are also common in CMT2P.

Rev. Date

1/10/21

Sources

INC