Associated Gene

Dominant Intermediate CMT-C is caused by autosomal dominant mutations in the YARS1 gene. While this type is growing in case count, there isn’t much known about CMTDIC. Published literature is limited to case studies of two families, exceptionally large families at that, and one of which goes back to 1850. A third case study is of a CMTer from Korea who has CMTDIC.

CMTDIC symptom onset tends to occur by the CMTers late teens. Progression and severity vary and can be quite asymmetrical. The case study of the CMTer from Korea reported that nerve conduction characteristics were consistent with a demyelinating CMT on the left side and an axonal CMT on the right. Also, the CMTer experienced hand muscle atrophy and weakness in only the right hand.

CMTDIC

CMTDIC

Intermediate

Autosomal Dominant

YARS1

Chromosome

1p35.1

Zygosity

Heterozygous

Rev. Date

1/10/21

Sources

CMTA