Hello all, this is my 1st visit

[handmaid]

Over 30 years ago my dad started falling/tripping over nothing. He had all kinds of tests including a lumber puncture which he said was agony. The diagnosis? we can't give you one, Peripheral Neuropathy is a catch all. I started with all the same symptoms some years later, i chose to do nothing as i wouldn't do the lumber punture. Last summer i decided to get some tests after by younger brother was diagnosed with CMT without the LP. Specialist thought i'd got the common form cmt- bloods said other wise & i now need more in depth blood investigations. My brother is 6 years younger than me but his disabilities are much much worse than mine. My dad in his 90's is much better than both of us.

[Amanita]

Hi, Handmaid,

I am sorry about the CMT in your family, and that your brother is so badly affected by it. I hope that you will eventually find out which type you have. There are now I think over 80 (or is it 90?) known genes which can cause over 80 (90?) types of CMT - which is a general name for a group of neurological diseases/conditions which have some broad similarities - and there are still new genes being discovered. With most types each child of an affected parent has a 50% chance of inheriting it. CMT is known for being variable in severity and symptoms within a single type, and - as you have discovered - even within a family.

It is unfortunate that your father had to put up with the pain of a lumbar puncture, and I don't blame you for delaying seeking a diagnosis. Nowadays, as I expect you discovered, you would have a thorough neurological examination, probably followed by a nerve conduction study ( to measure the speed and power of "messages" transmitted via your neves; some types have slow speeds, others weak signals) , and a blood test to determine which gene is faulty and causing the problems. I suspect they look for the commonest genes first, and it looks as though they are going to have to search further to discover which one is in your family. Is your brother's type known? It would be very unlikely to be different from yours and your father's.

Do you or your brother have children? I hope you are able to be supportive of eachother, and that perhaps you have supportive partners too.

As no type of CMT is currently curable, it is actually more important to get help with practical things, so I hope you may have been referred to a physiotherapist, occupational therapist and/or orthotist for help with exercises for strength/ balance, hand exercises, and specialist footwear (to prevent tripping) respectively.

I wish you all the best.