CMT2V

CMT2V is caused by autosomal dominant mutations in the NAGLU gene. To date, only one family has been reported to have CMT2V.

The identified family has 21 CMTers who each experienced a late-onset painful sensory neuropathy. Tetreault et al., (2015) reported that each CMTer in this family had symptoms that developed over decades into continuous foot pain and many had weakness in their hands. However, some CMTers in the family complained only of sleep disturbances associated with their pain. Most of the CMTers in this family also developed difficulty with walking in a normal tandem gait as they got older.