Cardiovascular Autonomic Neuropathy in Charcot-Marie-Tooth Disease: A Genotype-Stratified Study of PMP22 Duplication and GJB1 Mutation Carriers.

  • Journal article
  • Human observational study

Researchers tested the heart-rate and blood-pressure reflexes that autonomic nerves control in 36 people with CMT1A, 24 with CMTX1 and 62 people without CMT. About a third of each CMT group showed cardiovascular autonomic neuropathy, compared with one in ten of the comparison group. One reflex test, the Valsalva ratio, was abnormal only in CMT1A.

The authors suggest considering autonomic testing in people with these types, especially around surgery. The groups were small.

Source date
Source updated
Genes
PMP22, GJB1
Subtypes
CMT1A, CMTX1
Approved