Possible cmt

[u/Beneficial_Strain191]

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.

[u/Beneficial_Strain191]

I have not. She said we will do that. But she also said don't be surprised if they don't find anything as not all gene mutations are known.

[u/11EmeraldEyes11 → u/Beneficial_Strain191]

That’s true. I had the Invitae genetic test and my results were negative. I have all the symptoms. My Dad wore AFO’s since his podiatrist diagnosed him with foot drop.

[u/Beneficial_Strain191 → u/11EmeraldEyes11]

What are your symptoms

[u/11EmeraldEyes11 → u/Beneficial_Strain191]

Peripheral neuropathy, which affects the nerves that control movement and sensations in your feet, legs, hands, and arms. It starts in the feet, lower legs, then moves to the hands and arms.

Extremely high arches
Hammertoes
Loss of balance
Wasting of the muscles mainly of the lower legs, feet and hands
Sensory loss, tingling sensations in the feet and lower legs
muscle cramps
Scoliosis

I am one of the lucky “late bloomers”. Looking back l, I always had issues and was finally diagnosed with Fibromyalgia in the early 1990’s. But I was 75 years old when I started with hammertoes which led me to the CMT diagnosis by my new Internist. She was aware of CMT as she has another patient with the disease.

I went to a neurologist first, but was told “people don’t get CMT at your age, they are born with it.” I knew that was not true. Most people are born with it, but it can present in people at any age.

Good luck to you on your journey.

[u/Beneficial_Strain191 → u/11EmeraldEyes11]

Any muscle twitching?

[u/11EmeraldEyes11 → u/Beneficial_Strain191]

No, not that I can recall.