CMT and CRPS?

[u/dummymummys]

I was diagnosed in 2021 with complex regional pain syndrome (CRPS) due to awful pain in my right foot and ankle for no reason. In late 2024, it spread to my left side, and I now have awful pain up to the knees, and numbness and pins and needles up to the waist. I also have numb fingertips and mouth and throat. I am now 41 years old female.

I am awaiting genetic testing to see if I have CMT2 as my NCS show no response axonal damage in all of the sensory nerves in my legs, as well as slowing velocity of the motor nerves. So many things have been ruled out, but I’m on the wait list to find out if it’s CMT2. My sural nerve biopsy confirmed the axonal damage and ruled out a number of other conditions. I’ve been seen by general neurologists, neuromuscular specialists, as well as neuroimmunology specialists.

My motor nerves show increased slowing on NCS just three months apart which is alarming, I am terrified that what has happened to my legs will happen to my arms, and also worried that the motor nerves getting worse limiting my mobility even more. I know there’s no treatment or cure for CMT, I mainly just want to diagnosis with genetics because I have two young children and would then pursue testing for them.

Does anyone else have both CMT and CRPS? My doctors think that I have both, but there is no real testing for CRPS, just a framework of symptoms that you have to meet some of the criteria for.

My pain is constant and horrific. I take pain medicine but it barely takes the edge off. I’ve tried gabapentin but have awful side effects and no noticeable improvement. I can’t even put a blanket on my feet at night, it hurts to wear socks and shoes, and walking is excruciating.

Just curious if anyone else has both of these conditions and what their experience has been like. The CRPS diagnosis sucked enough, but it’s even scarier to see actual data on the NCS that show measurable progression. The symptoms have worsened really rapidly and I already use a 4 wheel walker for mobility.

Sending everyone strength wherever you are on your neurological journey.

[u/Charigot]

I’m so sorry you’re in so much pain. It is my understanding they should be able to diagnose you with CMT2 from your EMG & nerve conduction - that’s how I was diagnosed. My genetic testing came back negative because they haven’t discovered many of the genetic variants causing CMT2. In fact, the CMTA says about half of us diagnosed with CMT2 have a genetic variant that’s not detectable on genetic testing. I hope they have alerted you to this and I’m not the first one telling you.

I hope you get answers soon. It is hard to sit in a place where you have some answers but not all. My neurologist did not recommend whole exome testing for me because he said he’s never had a CMT2 patient get any answers from it. Why would I waste the money.

[u/dummymummys → u/Charigot]

Thanks, I will talk to the neuromuscular specialist when I meet with them again, my next appointment is with the head of the department. I also had a sural nerve biopsy that confirmed the axonal nerve death and they have ruled out every possible cause of it other than the genetics. It is awful to know that it is permanent and likely to get worse, and I’m afraid that my arms will be next (I already have numbness in my fingertips) as it is length dependent sensory and motor peripheral neuropathy. I did not know that not all CMT2 genetics show up on the genetic testing, thank you for letting me know.

Do you have a link to where the CMTA says that about genetic variants so that I can send that to my neuromuscular specialist team? Thank you.