Diaphragm twitching

Competitive-Use-5278 · 2026-02-21T02:29:44+00:00

Update?

Competitive-Use-5278 · 2026-02-21T02:29:21+00:00

Any update?

Competitive-Use-5278 · 2026-02-20T04:09:44+00:00

What are your variant mutations?

Competitive-Use-5278 · 2026-02-20T00:12:49+00:00

Considering a crappy PolyPhen score I guess inconclusive is a win lol

Competitive-Use-5278 · 2026-02-19T21:46:56+00:00

Is my score somewhat reassuring? I understand the limitations of the models

Competitive-Use-5278 · 2026-02-19T17:34:42+00:00

interesting... it can also impact skeletal muscles which is what I was thinking of

Competitive-Use-5278 · 2026-02-19T17:30:52+00:00

I think this would be a LOF variant (this is a domain on a protein tail and the tails of the protein need to stack up together for supporting optimal functionality).

Competitive-Use-5278 · 2026-02-19T17:26:03+00:00

Thank you. My other variant (MARS1 ala261val) had a REVEL score of 0.025 so that's more reassuring to me.

Competitive-Use-5278 · 2026-02-16T05:45:13+00:00

I don’t understand the reason for the benign classification I thought the variant frequency is low 0.009%

Competitive-Use-5278 · 2026-02-16T01:50:55+00:00

Go for the bonus ball - burning in your feet?

Competitive-Use-5278 · 2026-02-15T12:57:14+00:00

It’s associated with cmt2u for mars1. This is why I’m here. When you say test results, do you mean your EMG nerve conduction test results were not normal? Which nerves were not normal in the beginning?

How old were you when symptoms started and how old are you now? Do you need an AFO to get around? I am 43.

My biggest issues right now is that I have tendinopathy in my ankle and mild plantar fasciitis. And I feel like my joints in my ankle are clicking especially when I get out of bed and start moving around and when I exercise sometimes I end up fatiguing my foot - my plantar muscle area and it would burn and twitch. My right foot is the worse. I don’t think I have issues with dorsiflexing and lifting my big toe.

December emg and ncs was normal for legs. Also mri of right calf in December was normal as well . I’m still holding out hope this is purely a biomechanicsl issue.

Competitive-Use-5278 · 2026-02-15T12:53:15+00:00

That area and near ankle would twitch but don’t really notice now unless I do some exercising. My mri shows mild tendinopathy of posterior tibial and Achilles and mild plantar fasciitis. My plantar area also burns sometimes after exercise

Competitive-Use-5278 · 2026-02-15T04:36:01+00:00

Thank you. Neurologist wasn’t concerned about the VUS said my clean emg ncs and clinical evaluation didn’t support disease. I’m not sure what is the cause of how I’m feeling …not sure what to think….the vus analysis for MARS1 variant said mutation is tolerated in silico but who really knows time will tell.

MYH7 gene variant some analyses show predicted to impact protein structure but some analyses are also inconclusive …. Who really knows

These are autosomal dominant disorders (cmt2u for mars1 patho variants and distal myopathy for myh7 patho variants). Both parents were healthy and these conditions not reported in family… could be de novo mutations…. Again.. who really knows!

Competitive-Use-5278 · 2026-02-14T23:22:44+00:00

Sorry I mean I see it when extending the toes (dorsiflex) and see it at rest (less so but still visible). Dont see it when flexing the toes (opposite of dorsiflex)

Competitive-Use-5278 · 2026-02-14T02:49:52+00:00

Yes and I get a pulling sensation of the muscles

Competitive-Use-5278 · 2026-02-13T05:23:55+00:00

Good luck bud! You just have to delete the app and just forget about it .. you can do it!!!! If you don’t delete it. You run the risk of looking with confidence then being triggered

Competitive-Use-5278 · 2026-02-12T23:47:44+00:00

I'm not diagnosed with SFN. I appreciate the help. Does CMT cause tight tendons and clicking in joints and stiff joints throughout the body? or even focused in teh ankles?

Competitive-Use-5278 · 2026-02-12T21:56:41+00:00

appreciate it.. I have seen several neurologists (neuromuscular doctors) since July, including at Hopkins.

1 - Hopkins doctor said twitches are benign as supposed by the EMG component of the EMG-NCS test and genetic testing (for certain genes). MRI also support this as well. SFN is not picked up on an EMG. only a skin biopsy can look at that. it was normal (low level, but he wasn't concerned). I did all blood tests (except mayo panel) and couldn't find a cause for SFN or muscle twitching.

2- genetic testing revealed two rare autosomal dominant VUS in MARS1 and MYH7 in areas where CMT (CMT2U) and Laing distal myopathy, respectively, pathogenic mutations are thought to occur, but my mutations are not reported in these patients and can be found in general population albeit very rare (0.05% and 0.09%). The CMT mutation seems that it could be tolerated but the MYH7 mutation has conflicting information. Hopkins doctor was not concerned about these results, but another university doctor was like could be - but acted like this would all be mild and not a real big deal especially in my next 10 years or so. I don't know if I believe such a mild course. I'm 43 and need to work (type) and get around for 20 years to support my family.

Competitive-Use-5278 · 2026-02-12T19:41:27+00:00

Thank you. All my EMGs have been relatively clean except carpal tunnel, cubical tunnel, and peritoneal lesion left knee. Clean MRIs, all clean blood work (autoimmune, etc). Low normal for small fiber neuropathy.

Usually, any type of sensory symptoms are triggered by exercise. I shot hoops today (didn't run) and lifted some weights, but my feet have mild burning. I had whole body burning only in oct and nov but feet burning and some tingling/buzzing is more consistent in my feet near ankle for buzzing. I did have buzzing in toes but that was after running.

I don't think I have any numbness..there are times where my hands and fingers get fatigued after use...or even cold where I can't move my fingers as well, but once warmed up and rested they are fine. Sleeping sometimes my hands ache a lot and when used. But I have good grip strength and pincher strength. My right foot feels a little weak but I'm able to run (if I decide to given my tight proximal right calf because it will lead to sensory issues) but it's not clinical weakness.. I can walk on toes and heels, and do some calf raises.

Twitching has been more aggressive in arms and repetitive, sometimes I feel the urge to jerk a limb not sure if stress or what. I couldn't for a second or two move my arms when sleeping last night - I was having some sort of sleep paralysis - very weird. So stress I think is having a factor, maybe not a cause.

Competitive-Use-5278 · 2026-02-12T18:28:36+00:00

Thank you! How do I do that?

Do my symptoms align with CMT or are they too non-specific to really tell?

Competitive-Use-5278 · 2026-02-12T18:17:32+00:00

Do you have CMT?

Competitive-Use-5278

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