CMT2F

CMT2F

Axonal

Autosomal Dominant

Associated Gene

HSPB1

Chromosome

7q11.23

Zygosity

Heterozygous

CMT2F is caused by autosomal dominant mutations in the HSPB1 gene.

CMT2F symptoms can start to occur anywhere between the teens and the CMTer’s late 50’s. Regardless of the age at which symptoms start, disease course is usually slow. CMTers who have CMT2F will usually experience lower leg sensory loss with weakness and atrophy leading to foot deformities and mild to moderate mobility impairment. A CMTer who has CMT2F can experience hand weakness and atrophy that leads to contractures (clawed hands) later in the disease course.

CMT2F severity, symptoms, progression (albeit usually slow), and age at onset can be widely variable, and even within the same family.

Rev. Date

1/10/21

Sources

CMTA