cMT11 and DNA testing

[PGS7]

CMT11 and DNA test

Hi, my husband is due to have DNA and EM tests next week to confirm suspected diagnosis. We do not know if anyone else in the family has had CMT, my husband did not know his father. He is struggling with having to pass this info on to his Son and grandchildren should it be confirmed, he says he is 76 and although looking back he has had many symptons he has gone undiagnosed due to other medical problems being blamed, ie diabetes, so why inform and give them worry of something that may never happen to them. Has anyone else dealt with this problem, and do the medical people insist on involving the family. Thank you, Pam S

[Morllyn]

I know that it is a hard decision but he should let them know if/when he gets a confirmation.

I know he struggles with the guilt but he shouldn't. He did not choose to have CMT nor did he know about it so there is no fault. The fault will come when future generations have it and they are struggling with trying to find out what is causing their physical/medical problems and have no clue because no one told them about the CMT in the family. They could have even worse problems with it than he had. My husband and son have it and it is in my husband's mothers side of the family. My husband has it worse than any of them. Even if one generation does not show obvious signs they can pass the genes to the next generation.

They should be told so that they can make the decision whether to have their own children or not.

[PGS7 in reply to Morllyn]

Thank you Morilyn, you are right in what you say. I will have this conversation with him when he has had definite confirmation. He asked me thus mor

[Amanita in reply to PGS7]

CMT is typically diagnosed with the help of nerve conductivity tests as well as DNA. I have not had an EMG test myself.

The nerve conductivity tests should reveal whether the problem is axonal ( = faulty "electric wires" - resulting in reduced strength of signals between brain and e.g. hands and feet) or with the myelin (= faulty "insulation" of the "wires" resulting in signals being slowed down). Essentially -the further the nerve signal has to travel, the worse its quality. Whether the faults are axonal or with the myelin covering, depends on which type of CMT it is. My signals were virtually unrecordable, so at least I never felt anything. The person testing your husband may say something to him briefly but the result would normally be sent to his neurologist, for discussion at his next appointment.

The DNA test is done using a small blood sample, which is sent off to a specialist laboratory, and the result can take a number of months to come through - nine in my case.

There is a huge number of genes that can be responsible for CMT - is it something like 80 now? New and very rare ones are still being discovered. But about half of cases (CMT 1A) are caused by the same gene which results in faulty myelin.

Morilyn is right about your husband telling his son -and any adult grandchildren - if it does turn out to be CMT. It isn't anybody's fault, and even if they have no apparent symptoms now, they can then choose whether or not to be tested for it.

Good luck for the trip to Sheffield. Let us know how it goes.

[PGS7 in reply to Amanita]

Thanks Morilyn, my husband was diagnosed with Motor Axonal disease 3 years ago no one mentioned CMT ? I will keep in touch.

[PGS7 in reply to PGS7]

Thanks Manita i will update you next week.

[HorshamMalc]

They need to know. They won't thank him for allowing them to struggle with problems they, and quite possibly their GP, don't understand should they have inherited the disease. One of my daughters has inherited it from me, we think, as she is showing the early symptoms. She's quite cool about it and just gets on with her life making sure she keeps fit and the weight off, the best (and only) treatment that exists at the moment.

Good luck with the tests.

[PGS7]

Thank you, we are in Sheffield now, have an early appointment with The Hallam University Hosp in the morning for DNA and EMG tests, we will tell them, just as soon as confirmed. thank you for responding. Pam S