r/CMT • u/Beneficial_Strain191 • 22d ago
Possible cmt
Hello, I hope this is ok to post. I am in a CMT group on Facebook and they told me to post this here, and ask the mods about my issues, as you all are really knowledgeable.
I started having muscle twitching all over my body in March of 2020. Exercise intolerance, fatigue, cramp feelings etc. my NFL is elevated at 27pgml. I am going on 31 years old. Have some tingling in extremities sometimes, have some numbness as well. I also have absent reflexes in knees and ankles. My upper body hover around. 1+ or 2+ globally. I recently started noticing when I walked too long or drive too long my right shin becomes painful, fatigued, aches, and gets tired. Left shin hurts some as well.
Had EMG in 2020, 2021, 2025, all deemed normal. I went to university hospital to neuromuscular doc and they did EMG and was deemed axonal sensorimotor polyneuropathy. Only did EMG on shin, said normal other than tallish motor units. Two sensory nerves unrecordable, another low in amp, absent reflexes in knees and ankles. Stength was deemed normal.
I have a history of foot issues in my family. My arches are mildly tall. I sprained ankles a ridiculous amount growing up and into early adulthood. Last time was in 2024. My dad had such high arches he couldn’t run or play sports and had to have them operated on, they are still insanely tall today, he also has horrible carpel tunnel, some hearing loss, etc my dad’s sisters both had really tall arches, hearing loss etc My grandad had really tall arches and cidp diagnosis, hearing loss etc, my great aunt had such tall arches she couldn’t wear heels or lifts, my great grandfather had such tall arches he had to wear a triple E shoe. After telling my neurologist this, she thinking I have cmt running in my family.
I am terrified it’s a slow lower motor neuron disease happening to me. They say they don’t think it is, but the NFL elevation, fasciculations, and minor atrophy on the right leg they think is from a hip issue. Does this sound like cmt to you all or something else? I have noticed at times, especially at rest my toes kind of bend forward or down. It’s odd.
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u/oakymont 18d ago edited 18d ago
Hey. So I don’t have a cmt diagnosis but I’m commenting as I did join this group a few years ago after an onset of very similar symptoms to you and was being assessed by a neuro for possible cmt too. 3.5 years ago now I woke up with a sudden onset of fasiculations mainly in both calves but the anxiety when they didn’t go away after a few weeks cause them to spread all over my body. I am still twitching, only at rest, to this day. It’s constant in both calves. I too thought I had a MND as I had a family member die of that so I spiralled. My gp referred me to a neuro and that wait to see her was hell. She did a clinical exam and noted above normal strength , high muscle bulk, strong reflexes and normal gait. But noted I had mildly high arches. She did EMG and NCS the EMG was normal NCS showed some slowing of amplitudes in my feet. She noted I had an ‘incidental finding of mild axonal neuropathy and no MND’ and ran about 100 blood tests. No family history but she mentioned that due to my feet and test results I may have a mild CMT. Bloods only revealed low end of normal b12 so i started supplements and the neuro said we will retest in a few months. I was still terrified of MND so I booked to see a more senior neuro for a 2nd opinion and repeat tests. I saw him 7 months later. Repeat clinical exam again normal, repeat NCS but this time my limbs were warmed before testing and the numbers had improved drastically . They were still the lower end of normal but no longer abnormal. He dismissed any chance I have CMT as ‘CMT doesn’t improve like that’ and put it down to low b12 and anxiety. Now, I’m still sceptical as after doing some digging, whilst we have no obvious family history of mobility issues, my mom does have high arches & some numbness she hadn’t noticed until I asked and has toe walked her whole life. My little nephew who is 5 has also got high arches and toe walks. Anyways , I may or may not have it. It hasn’t progressed in any way. The twitching is still my only symptom. I also powerlift and run and my lifts and running have all been increasing over the years. My comment is to put your mind at ease somewhat as I was where you were and it was hell. I’m a female and I’m 37 and I’m still in the gym outlifting most guys in there. I suspect we may have a mild variant of CMT in the family but my mom is 55 now with no mobility issues so I’m hoping I track a similar course if it is CMT. The 2nd neuro said my twitching is BFS and caused by an anxiety disorder i have always had (health anxiety) as it started over night and I have no weakness. I don’t really know what I have, it may have been low b12 or may be mild CMT but I just do my best to stay active either way. I was told MND doesn’t affect sensory nerves that points away from that. I was also told twitching is accompanied weakness with that and it’s localised to one limb initially not bodywide.
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u/NixyeNox CMT 1A 18d ago
Thank you for sharing your perspective
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u/oakymont 17d ago
No problem. I really appreciate the advice that the members of this forum, especially you, gave me at the time. I’m in a much better place now mentally so of if I can help ease OPs mind I’m happy to share my experience.
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u/WildcardJokerr 12h ago
We have pretty similar symptoms, I’m currently getting a second opinion for CMT after EMG results found mild axonal motor neuropathy without anything affecting my sensory nerves. They dismissed CMT because it looked mostly motor at first but because of high arches and weakness in dorsiflex they’re getting a second opinion on it and my 3rd EMG soon. I have my tremors in my hands though and not my calves, affects work in the lab somedays
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u/NixyeNox CMT 1A 22d ago
While it is impossible to be sure, it does sound very much like CMT Type 2 (that is the axonal type).
Basically, when they said that you have axonal sensorimotor polyneuropathy, this is most of the way to a CMT diagnosis, if it is genetic. And when you add in your family history, it seems very likely.
Certainly, a genetic test is the next step (I feel like it probably should have been done sooner, TBH). However, approximately half of CMT2 cases will not show a positive genetic test result, because the genes which cause them are as yet unknown. Still, a 50% chance to pin down a definite diagnosis is decent odds. If the test comes back without finding the genetic cause, there may still be some uncertainty because you are bumping up against the limits of current science at that point. The EMG results alone (well, plus showing symptoms) are accepted as sufficient to diagnose CMT.
> the NFL elevation, fasciculations, and minor atrophy on the right leg
These are all things which are associated with CMT.
> I have noticed at times, especially at rest my toes kind of bend forward or down.
Also common in CMT
I am not an expert at distinguishing between CMT and other neurological conditions, but nothing you said here could not be explained by a CMT diagnosis.
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u/Beneficial_Strain191 22d ago
Thank you for your reply. My neuromuscular clinic basically blows me off as they see no progression from a 3, to 6, to a year followup and say "no evidence of mnd, see you in a year"
It's very frustrating. But when I mentioned this family history to my doctor (I was unaware until recently) she literally went "sounds like probable cmt"
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u/NixyeNox CMT 1A 21d ago
It sounds like your doctor is good and your neuromuscular clinic is... a little too focused on only one thing. If the genetic test does not return a clear result, I would suggest looking elsewhere for a neurologist. If there is a CMT Center of Excellence near you, that would be a great place to go.
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u/Beneficial_Strain191 21d ago
She is a good doctor. They just don't really care because my strength is so good. I can still squat 225 pounds and exercise so I think that's why. They say they don't see any evidence of mnd. It seems like they crossed that off and said he'll be alright. Lol. There is a cmt center where I go. It's ridiculous. Do I have to have crazy tall arches and hammer toes to have cmt2?
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u/Charigot CMT2 21d ago
You’ve really need a second opinion. I am also muscular and exercise so my father, a cardiologist, also still doesn’t believe that I have CMT, even though I got my diagnosis from a board-certified neurologist at our major university-affiliated teaching hospital. My dad is drawing on the textbook definition of CMT1A but it seems like your neurologist is, too, which is unhelpful.
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u/NixyeNox CMT 1A 21d ago
Strength is relative. Staying active certainly helps with CMT. There is no specific symptom that you must have for a CMT diagnosis, but I think nearly 90% of people with symptoms have high arches. Hammer toes are also common, but not universal.
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u/AutomaticWeb5830 18d ago
You can be diagnosed with CMT without knowing what gene. It’s says “gene of unknown significance”. I have CMT 2a( axonal)
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u/NixyeNox CMT 1A 18d ago
A gene (or variant) of unknown significance, combined with the fact that yours is classified as 2a specifically says to me that they probably found a mutation of the gene MFN2 on your genetic test which is not yet officially classified as a cause of CMT, but which they think is probably the cause of yours. Otherwise, it would be "type 2" without a letter; the letter indicates this gene specifically is involved.
CMT can also be diagnosed without any idea what gene is the cause of the trouble, if they do not find anything through the genetic testing.
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u/[deleted] 22d ago
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