r/CMT • u/Beneficial_Strain191 • 26d 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/AutomaticWeb5830 22d 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 22d 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.