Cmt and ptls

[Megan23]

Had genetic tests com back I have duplication of the pmp22 gene and duplication of chromosome 17p12 so I do have cmt and ptls which my 10 year old daughter hathe same too.

[Morllyn]

So sorry that you have CMT, sorry that you have any chronic disease!

It is good to have a diagnosis though so that you can research and know what you are dealing with.

[SallyH_NCCMT]

I have not seen ptls before...what is it, please?

[Megan23 in reply to SallyH_NCCMT]

It is potocki lupski syndrome it is classed as rare and it is to do with people born with it can have things like learning disabilities heart disorders and much more their still learning about it.people born with the cmt gene pmp22 and have a duplication in the chromosome 17p12 long arm have ptls and when they have both together it can make the cmt worse for that person we have find out it is genetic from my mothers side and 3 of my children and two grandchildren have it it has missed one of my daughters so she does not have it and will not pass the gene duplication on to any children she may have their a 50% chance to pass it on if the parent has it.