Sorry for long post

Hi I came across this condition and I think my son may have it my son his 13 years old and has walked on his tiptoes on and on for years abd it was blamed on his autism however last year he was walking on his left foot all the time. We saw his pieadtrician who referred him to a orthopaedic surgeon we finally got an appointment in October last year. He referred him to a neurologist when we finally got to see him he referred him for a MRI this was two weeks ago.we went to his pieadtrician last week who says his fort has deteriorated in the 6months since we last saw him and now his right foot his going the same. He does believe he may have a muscle weakening or the electrical wiring his faulty but no one can give me any answers. In the meantime his mobility his getting with worse. I feel like everything is just such along process and no one is giving me any answers. Having seen pictures of cmt feet I think my son's foot resembles them.

3 Replies

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  • Hi Ella. I'm sorry you are having such a tough time - diagnosis of anything seems to take forever. The only reliable way of telling if someone has CMT is from a genetic blood test. It can take up to three months to get the results. One sign of CMT is reduced, or completely lacking, reflexes (I have none). Also if there is a family history of it - if one parent has it, a child has a 50% chance of inheriting it. Sometimes it might be so mild in the parent that they do not know they have it (this is for the more common strands - there are some CMT strands that appear out of nowhere). I would suggest you check your family history, and that of your husband, because if you find someone else who has it, this will help with getting your GP to do the blood test. Good luck.

  • thats how I was diagnosed Ella, no-one in my family had CMT, I'd never heard of it nor had most of the GP's I'd seen. But I had had foot surgery so the gp sent me to orthopaedics and he sent me to a neurologist who confirmed it. My parent's were tested for it once I was diagnosed and they didn't have it, it was just a fault in my genes, called a new mutation. I have type 1a, which is the most common. Dawn below is right that the only way to be really sure is to have the genes (or is it chromosomes? not sure) looked at by a geneticist under a microscope but it takes a long time in new mutations cos every possibility has to be looked at whereas if they're checking a relative they know to look for a particular type in a particular place so its quicker. Good luck!! Lynne

  • Hi thank you for the replies. We have had my sons physio appointment today not been since October . i explained to her i was unhappy that it was taking forever waiting for results to come in and that his mobility is getting worse. She did agree with me that it could be CMT and had expressed this opion to the consultant in October but he did not get back to her. Im so cross in the meantime my son cannot stand up straight and his right foot his started to go the same as his left.

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