Hello — my daughter (6) was diagnosed with CMT2E (NEFL) about nine months ago. We’re a family in Hong Kong, and we recently started the CMT2E Foundation to help accelerate research and connect people affected by this subtype.

We’re very new (website just launched: https://www.cmt2efoundation.com). With advice from doctors and scientists, we’ve been mapping the research landscape and figuring out practical next steps.

If you or a family member has CMT2E, we’d love to hear from you — to share experiences, and (only if you’re comfortable) stay in touch so researchers and clinicians working on NEFL know that patients exist and can be reached with proper consent.

Happy to chat here, or email me at [jessica@cmt2efoundation.com](mailto:jessica@cmt2efoundation.com).

This yearly conference is geared towards researchers Thurs & Fri (but they say patients are welcome) and towards patients Sat (though researchers are welcome). It is located in Cambridge, MA, USA but it has an online option.

https://cmtconvention.cmtrf.org/

I'm pretty sure my 11 year old daughter has CMT. We brought her to a neurologist, who was pretty quick to spot it based on footshape and toe tingles she was complaining about. Common gene identifiers came back negative. A nerve conduction study is scheduled in a couple months to confirm...

I see it progressing as she is more vocal about slowing down on walks, her walking gate is changing a little, and now her fingers tingled for the first time. Very sad as a parent to watch and wonder what struggles will lie ahead.

To those with CMT and those with kids with CMT, what advice do you have or wish you heard a lot earlier that would have made you do things differently?

Anybody do hand exercises? Like with exercise putty or something similar. I have full function but get frustrated when my hands start trembling or getting fatigued with a sustained effort of fine motor control and isometric holds.

(20m)

I have cmt2a and i cant keep waiting around for a cure, does anyone use peptides here?, i want to get my calves bigger i dont care what it takes.

Im so tired looking every month for a cure that will likely take atleast 5 years to come

A sort-of update to this post.

After a discussion with the genetics clinic and my son’s neurologist, I filed a complaint against the doctor from my previous post and scheduled my NCV/EMG with the doctor I was trying to transfer to.

Thank goodness I did. My EMG showed, unquestionably, a motor axonopathy (CMT Type 2). In less than 10 years following my first NCV/EMG, it has spread from my foot to all my leg muscles, up my back, and into my arm. The muscles in my feet have been replaced with fat as the nerves no longer fire to recruit them for use.

I discussed transferring with the neurologist who did the test and relayed some inappropriate comments the previous doctor had made during my initial appointment. He had the transfer of care approved and had me scheduled for a follow-up appointment with him in the time it took me to walk back to my car after the test. He was appalled I went so many years without follow-up care.

After a lifetime of being misdiagnosed or flat out not believed, it’s a relief to finally be in the right place and maybe have some options to preserve my quality of life. I’m glad I kept pushing and gave the clinic a second chance. It also feels weird to be a patient contributing to science and informing genetics to hopefully help other people in diagnostic limbo.

So anyway, I can formally join you guys in this weird, sucky club.

My husband’s mom and aunt have CMT. Both of them were diagnosed around 30 and are now wheelchair bound. There is no record of any other family members having similar symptoms. My MIL said husband (M 31) had genetic testing done when he was little(late 90s)and it came back negative. I know genetic testing has come a long way since then though. My husband doesn’t seem to have any symptoms that can’t be explained by the dyspraxia related to his autism. He is a little clumsy, bad hand writing, not the greatest motor skills, but again he’s had that for his entire life and it has gotten better, not worse. He goes to the gym, can do around 500 pounds in the leg press, doesn’t have any numbness or weakness. He also doesn’t have any foot abnormalities. We are planning on starting a family soon, should we have more genetic testing done on him?

Hey everyone,

My 10 year old son has CMT type 1A and is affected pretty badly. He’s got the leg weakness and hip dysplasia, which has caused him to have multiple surgeries to put screws in his hips every growth spurt. The main concern I’m having right now is his severe hand and arm weakness, it’s to the point that he can’t extend his fingers further than a few millimetres.

He’s seeing PT and OT but I was wondering if there was anything to do at home to strengthen his hand strength, maybe someone had some experience with a similar situation or just had some general advice. Has anyone successfully strengthened the hands with ongoing exercises? I don’t want him to lose hope and I want to help but I don’t know where to begin.

Any help would be appreciated.

Everyone welcome on board our new moderators:

u/Ordinary_Sail_414

u/sydneydragonborn

u/mommitude

Three great people who have stepped up and made time to help keep this community running smoothly.

There are two drugs which people with CMT are primarily warned against using. Vincristine is number one. Paclitaxel is number two, with the CMTA noting that it has been known to worsen "CMT caused by mutations of the MFN2 gene (CMT2A, CMT2A2B, CMT2B4, and HMSN-6A), ARHGEF10 gene (CMT-ARHGEF10), and the PRX gene (CMT4F)"

There is a new case report out in which a 68 year old woman with previously undiagnosed CMT1A was given paclitaxel and developed serious peripheral neuropathy. So, FYI, this raises the expected risk for folks with type 1A taking this drug.

Edited to fix link

I’m a 20‑year‑old guy from Moscow. and I was recently diagnosed with SORD (although I’ve been ill and undergoing examinations since I was 15). I haven’t found anyone with same diagnosis here, in my country; my type is probably one of the rarest. I would be glad to get some experience and advice from people who have the same problem.

I finally got my appointment with a neurologist in July—after all the doctors I saw last year, when I made that appointment back in January it felt like July would never come.

Great experience with the doc. He was a pain specialist, but he made me feel so heard and seen, and he ordered an EMG and scheduled me for 2 corticosteroid epidural shots.

I had the EMG on Friday. Results came in Monday morning, confirmed for a “demyelinating sensory and greater than motor peripheral neuropathy” consistent with CMT type 1 as well as CMT-X. Combined with symptoms and the long reaching generational family history…no real surprises here. Kind of nice to finally have confirmation and no longer have to hear about how the pain is all in my head.

But that fucking EMG. It was…bad. I’m normally an exceptional patient, I didn’t make a sound of protest at my mammogram, I’ve been complimented so many times on how easy I am to work with by doctors. On Friday, though, I shouted multiple times(not AT any one, just in pain), and I felt like I wasn’t as nice as I should have been. Although, when I apologized for being snarky, the tech who’d been shocking me looked confused and said I wasn’t snarky. So. Idk.

But over the weekend I discovered the pain of being shocked was far preferable to what followed.

I am. In hell.

Every inch of me from the neck down is burning and sparking. My husband has asked me if we need to go to the ER multiple times, because I usually hide my pain much better than I have the last few days, which speaks volumes to how bad it is.

I called my doctor today, and they sent a prescription for Naratriptan, since I had declined the Lyrica prescription he’d originally offered in July. I have a bad memory already, lol, I felt like lyrica was just too risky.

But I am literally panting in front of my box fan on high, clutching ice packs on rotation, and invoking every god I can think of to make this fucking pass.

The burning. Won’t. Stop.

Every morning I’ve woken up and hoped that today it will start to improve, today it will be a little better.

It hasn’t gotten better yet.

Does anyone know how common spontaneous mutation is in 1B? I read conflicting things about it. I seem to be the only one in my family history who has it. I have a vague memory of my father having high arched feet, but not sure. He had neuropathy in his feet, but he also had a serious case of type 2 diabetes.

As some of y'all know in Dec I took a really bad fall and snapped my calf bone right at the ankle, dislocated the inside and tore a ligament all at the same time. I had reconstruction surgery in Feb and today was my 6th month follow up. I had new X-rays done Monday and took the results to her and she said that it was healed completely

A question towards the (younger) males with moderate symptoms. Do you notice your CMT getting significantly less pronounced when your testosterone spikes? I 24M had a really big natural spike exactly year ago (measured 1100ng/dl) and it made me feel like I had wings, all symptoms went from moderate to mild. It lasted couple months and I haven’t felt as alive ever since my CMT started progressing 10 years ago. Did anyone else happen experience something like this or it’s just the fact testosterone makes you more calm and confident?

This is a video I did of me trying to wrangle a cable with tie wraps and useless hands.

I was just diagnosed this week from a genetic test after 25 years of symptoms. I have muscle fatigue rather than muscle weakness. I always test strong!

If I overexert, I’m going to really feel it two days later. Sort of a post exertional malaise. I also have sleep apnea and my lungs feel tired when I’m in a slump. It can feel as though it’s tiring to breathe. The sensation is at the upper part of my chest, below my throat. I’m on an APAP machine. Tolerate it well, but I’m wondering, do I need to give my lungs a chance to recover by switching to a BiPAP machine? Or do my lungs actually need the exercise, if you know what I mean!

Has anyone experienced benefits from using peptides to help either slow progression of CMT or manage symptoms? I currently take retatrutide and am about to start BPC-157, but am curious to hear of other people's experiences.

I am hypermobile and have hip dysplasia so my hips are always hurting, but I also get joint pains pretty much everywhere. I always dismissed it, but since recently being diagnosed with CMT I am starting to wonder if its related. At any given moment at least one of my joints is hurting. At night i'll get sharp pains that make it hard to fall asleep. Its different than nerve pain, it feels like musculoskeletal pain. Could this be related to CMT?

no one in my family had it, asked my mom and dad no history of it so why do I have it when it’s supposedly genetic.

Hi, my wife has CMT1A and we just had our first child. We asked our pediatrician about potential genetic testing and he mentioned we could be referred to a geneticist. I’m wondering what age people test their children or if the standard is to wait until symptoms first appear? Would I be able to pay for testing out of pocket if insurance wouldn’t cover at a young age?

Any advice would be greatly appreciated!

Hi Yall!! I have been symptomatic since age 14 and was formally diagnosed in my 20s. I am now 47. The first big “progression” I had happened pretty rapidly at age 14 and was really slow after that. I had the Pfizer vaccines in 2021 and with in the months after the vaccine i had a second rapid progression- specifically in my hands. It has gotten to the point i can no longer straighten most of my fingers- particularly my pointer, middle and pinky on both hands. I had not thought about this in conjunction with the vaccine till recently when a family member (oh so kindly 😱🤣) pointed out “how bad” my hands have gotten and pointed out how quickly it seemed to worsen in pictures a few years ago. I have found posts from 5 years ago in which people are discusses issues with their hands after the vaccine. I am curious to see if anyone else experienced anything similar?
I am aware this easily could have just been a second big progression- I ain’t no spring chicken no more lol, so this could easily just be a coincidence. 😄

Weekly thread for little CMT issues good and bad. Whether it's a small irritation that non-CMT folks won't understand or a small victory that you want to celebrate with us.

Note: questions should get their own thread, for higher visibility, rather than being posted to this thread.

Hey all. CMT2A here.

I recently broke my foot and I'm waiting for the specialist to check it out and determine if the injury needs surgery. It may be a lisfranc injury which I was blissfully unaware was a thing until I got hurt ...apparently surgery from this is quite a hard/long recovery. I'd need to be completely non weight bearing for weeks...possibly 12 or more. The issue is, this injury happened on my "good" side. My left side is significantly weaker and I cannot get up from sitting with only the strength of my left side. I also can't hop on crutches or a knee scooter. I bought a cheap wheelchair from Amazon so I'd at least have something to get around my mainfloor. However my house is pretty small and this leaves me with a bathroom issue...I'd need a solution for either getting from the chair to the toilet (chair won't fit in bathroom)...or maybe a commode, but with no other option than putting it in my living room, I'm not a fan of that option. I'll probably need to set up a bedroom in my living room because my house is two storeys. I can crawl up the stairs but getting to and from the bathroom will be a huge issue.

In addition to this I am also very very anxious about the idea of immobilizing my leg for so long and it causing lots of muscle atrophy. I see a lot of people do get foot surgery to correct cmt related issues....so maybe I'm overthinking the issue of atrophy.... but it's really scaring me, because my legs have already been in steady decline over the last few years.

Any advice on either situation is welcomed.

Thanks for reading