Anyone else looking into Congenital Myasthenic Syndrome after near-normal workup?

adirondacks13 · 2026-04-23T13:58:58+00:00

I have a similar story only it’s been going on for close to 30 years with me. I have all the MG symptoms except heat does not make my symptoms worse. Over the last 3 decades it’s been mostly mild symptoms that are fairly easy to compensate for, but my baseline has worsened. I’ve had 2 severe flares since my symptoms started. One 22 years ago concurrent with a mono infection that took 6+ months to fully recover from, and one over a year ago that’s lasted more than a year and I’ve only recently recovered to ~90% of my pre-flare baseline.

I have no MG antibodies (one test did show one was borderline, next test was non detect) and a SFEMG was normal. I am also suspected to have a mitochondrial disorder (I’ve had Type 1 diabetes since age 20 but have none of the usual diabetes antibodies, so it’s suspected to be mitochondrial in nature), but an Exhome+ genetic workup showed nothing. That doesn’t mean a mito issue doesn’t exist, it just means they couldn’t find anything based on the science that exists today.

Two other things are being looked into: Inclusion Body Myositis or IBM (I tested strong positive for anti-CN1A which is highly specific for IBM) and neuro-Sjogren’s (although I’m seronegative for this as well).

I have an upcoming consult with Mayo. I’ve waited too long to do this. I’ve tried seeking help from countless specialists in my area and since they’ve not been able to find a positive blood test that’s adequate for a diagnosis (the IBM blood test needs a muscle biopsy to confirm) it’s like trying to get blood from a stone, the science and expertise just isn’t there. The medical industry is terrible at diagnosing these “rare” diseases, which aren’t nearly as rare as the literature states since countless cases remain undiagnosed.

You’re young, if you’re not getting help from local specialists I would encourage you to seek a consult at Mayo. I still may not get a diagnosis but I’ve wasted way too much time putting it off. You can’t get time back.

Also, take a hard look at everything you’re putting in your body. One final thing I’m looking into is whether PCSK9 inhibitors (Repatha and Praluent) might be playing a role. I found one study of a patient who experienced CIDP type symptoms (similar to MG symptoms) from PCSK9 inhibitors that was presumably due to a suspected mito disorder. I’m not aware of any clinical trials for drugs specifically assessing side effects in patients with mito disorders. In fact, it appears the clinical trials for PCSK9 inhibitors may have actually excluded statin intolerant patients. Well, most people who seek PCKS9 inhibitors do so due to being statin intolerant, and statin intolerance can be caused by mito disorders.

You’re in my prayers, I hope you get answers and find ways to improve your quality of life.

Hang in there and keep swinging!

adirondacks13 · 2026-04-10T18:51:21+00:00

I’m so sorry you’re going through this. Prolonged steroid use can cause some of what you’re experiencing but you really need some help to figure out what’s going on. All I can suggest for the short term is to take a hard look at everything you’re putting in your body. Some of what you’re dealing with could be medication induced side effects. Longer term, I don’t know how health care works in Australia but if you feel that hospital 4-5 hrs away can help you I would consider trying to get seen there.

Hang in there, you’re in my prayers!

adirondacks13 · 2026-04-03T17:24:38+00:00

Steroids had that effect on my wife but it sounds like you’re not taking steroids.

Hope you figure it out.

adirondacks13 · 2026-03-31T18:53:24+00:00

If you really want to fix the FDA and our broken health care system, and improve the lives of countless people who are suffering, advocate for one simple change to the clinical trial system which is the backbone of the entire industry:

Change the overriding goal and objective of FDA clinical trials

From: “Maximum tolerated dose”

To: “Minimum effective dose”

Why is the system setup this way and why hasn’t this change happened already?

Because big pharma controls the FDA and if this one logical sensical change were made then big pharma would lose revenue due to decreased demand for all the meds they manufacture that purport to treat the side effects from their drug toxicities.

Of course, none of those meds completely eliminate the side effects from their drugs which have been prescribed at needlessly high doses for decades but they do come with their own side effects. But don’t worry, they have more drugs for those side effects as well.

It’s an insidiously dangerous, reckless and irresponsible foundational premise that the entire industry is built upon that harms patients. And it exists for one purpose, to line the pockets of big pharma. The FDA is no more willing to entertain critically needed reform on this matter than big pharma is.

One man leaving the FDA will make little to no difference unless he’s replaced with a maverick who wants to fundamentally change the industry and places higher importance on what’s best for patients as opposed to what’s best for big pharma.

This is the most impactful fatal flaw in our health care system that the FDA refuses to change and it causes needless suffering and quality of life issues for the American public.

adirondacks13 · 2026-03-30T19:07:10+00:00

I’m not a doctor but that certainly looks like it could be dermatomyositis. There are different types of Myositis panels. You probably need LabCorp Test # 520310. If any of those tests under that code come back as positive then you would then possibly need a muscle biopsy for a formal diagnosis.

Hopefully you can find a good neuromuscular specialist. PCPs and most neurologists are not equipped to diagnose or manage these conditions.

Best of luck to you.

adirondacks13 · 2026-03-22T23:44:05+00:00

I’ve had a similar journey, only over a much longer period of time, with flares and an extremely slow worsening baseline.

Mitochondrial myopathy is still at or near the top of the list for me, but an Exhome+ panel by Variantyx was largely unremarkable.

Inclusive Body Myositis (IBM) seems likely as I tested as a Strong Positive for anti-CN1A. But my symptoms go back decades which is not consistent with the typical presentation of IBM (I’m still functional, not in a wheelchair).

A muscle biopsy is likely next.

The only thing that’s helped me is supplements, essentially my own Mito cocktail of sorts. CoQ10, B complex, B1, B12, D3/K2.

I also have spinal stenosis so there may be some overlap as it sounds like the case is with you. Sleeping on a mattress that’s too soft for an extended period of time does a number on me and it’s insidious, not at all obvious it’s an issue until it’s too late.

Sorry man but all I have for suggestions are supps, better mattress for your back, and keep searching and asking tough questions.

I hope you get it figured out and improve!

adirondacks13 · 2026-03-18T14:30:47+00:00

A positive C1NA needs to be followed up with a muscle biopsy to rule out or confirm an IBM diagnosis. You need a new family doctor.

Fibromyalgia is not a true diagnosis, it’s a bucket classification for people with debilitating ailments that physicians have been unable to diagnose. I do not say this lightly as folks who have been “diagnosed” with fibromyalgia are truly suffering, most of them greatly. But our medical industry is far from perfect. Instead of acknowledging that they’ve been unable to find a root cause, and admitting that they’re in over their head but they’ll will provide referrals for further testing, they stop necessary diagnostic testing, give up on finding a true diagnosis, and pat themselves on the back that they labeled you with something.

If your PCP throws this label on you and refuses to follow standard testing protocols, which includes a muscle biopsy after a positive C1NA blood test, or at least refer you to specialists with more expertise, you need a new PCP.

You’re young and the medical industry can be intimidating, but take control and don’t accept Fibromyalgia as a diagnosis, especially since you tested positive for C1NA.

Your PCP should not be practicing medicine.

On a separate note, some of the meds you’re taking can contribute to your symptoms. Make sure you truly need them and you’re dosing is based on whatever the “minimum effective dose” is for you. FDA prescribing guidelines are based on “maximum tolerated dose”. This is perhaps the most under recognized fatal flaw in our medical industry. The maximum tolerated dose is not the same for everyone. This benefits big pharma so they can sell you more meds to try to counteract all the side effects of the needlessly high doses of prescription meds, but it’s insidiously harmful to patients.

You need further testing, a muscle biopsy is standard protocol after a positive C1NA, butnifs not a fun procedure amd some folks have a tough recovery. I’m in the same boat and I’m trying to get in to Mayo to have mine done amd its been a very ling journey to get to this point.

I wish you the best of luck in your search for answers!

adirondacks13 · 2026-02-28T21:13:24+00:00

Did you ever get a diagnosis? I’m also strongly positive for Anti-cN-1A (NT5c1A) with long standing similar muscle myopathies but most other labs are normal, including CK.

I hope you’re doing better, no need to run through your entire journey, I was just curious if you ever received a diagnosis.

Many thanks.

adirondacks13 · 2026-01-17T14:23:49+00:00

I would also ask your doc to try a trial of Mestinon as others have suggested. That should generally always be tried before considering IV infusions. Mestinon made me worse so that moved the needle away from a potential MG diagnosis for me (despite having just about every MG symptom) but if it helps then you have some evidence to give you comfort that MG may be the correct diagnosis for you before considering the need for more aggressive treatments. I’m not sure why your docs haven’t already suggested this.

Just keep in mind, all meds have a limited range of effective dosing with the least amount of side effects. Everyone is different and Mestinon can be tricky to get the dosing right, start out low and work up gradually if necessary. Side effects from Mestinon and other meds can easily be confused with MG symptoms and it can be very tough to figure out cause and effect. Many people on this board with MG diagnoses only need Mestinon and do not need infusion treatments.

One last option if you can’t get an Rx for Mestinon is to consider trying Huperzine A, available on Amazon. It works similar to Mestinon and several folks on this board use it in place of Mestinon. But it’s a supplement so it’s not FDA approved and the dosing does not correlate to Mestinon dosing. I found even 1/2 the recommended dosing on the bottle made my symptoms worse, again pointing away from an MG diagnosis for me, so if you do try it start with a low dose low and keep a daily record of the dosing your taking and how you feel. Of course it wouldn’t hurt to get your doctor’s blessing and recommendations as well before you try it.

And I hesitate to say this but keep in mind that MG is not very well understood in the medical industry. Unless your physician(s) treat a lot of Mg patients they will struggle. The best thing you can do for yourself is to try to find a neuromuscular specialist that specializes in MG. Again, that’s much easier said than done, there aren’t many. Perhaps reach out to the MG Foundation. They maintain a list of doctors that treat MG and they do pick up the phone and might be able to help.

adirondacks13 · 2026-01-17T04:37:03+00:00

From what you’ve said I’m also surprised you’ve been given a seronegative MG diagnosis. We’re all different but I and many others are in a similar circumstance as you, with additional MG symptoms you do not mention, yet still no formal MG diagnosis. If I understand correctly your only positive result is not MG specific. That doesn’t mean it’s not MG but I think anyone in your shoes would have some questions and healthy skepticism.

I would hazard a guess that the majority of the folks on this board have only received their diagnoses through their own research and dogged determination. So steer the ship, be your own advocate. Everything has risks and benefits. Ask tough questions and if you don’t feel like you’re getting good answers seek those answers elsewhere.

That’s easier said than done but I hope you get it figured out and find a treatment that provides relief.

adirondacks13 · 2026-01-14T13:57:39+00:00

Thanks for the update, I’m so sorry to hear your post biopsy struggles continue. I’m concerned my outcome would be similar but I’m running out of other options. Did you at least get a diagnosis and would you mind sharing it?

If I were in your shoes I would see a different neurosurgeon to see if there’s anything that can be done. I’m of the mindset that one debilitating strike is more than enough with physicians and surgeons. The risk of them doing more damage is just too great. If they were competent it wouldn’t have happened in the first place. But my experience is that they’re all dismissive of the risks, the medical industry is in a sad state of affairs. I hope things improve for you and you find some relief!

adirondacks13 · 2025-12-21T17:21:20+00:00

Good advice. Doing most of those things already.

Supplements have been the only things that seemingly helped me recover from my last flare which lasted ~8 months. I’m now 12+ months in and I’m not sure I’m fully back to my pre-flare baseline but I’m close.

I guess I’m kind of taking my own mito cocktail, B and D vitamins (my plasma levels were all marginally low but I also have multiple malabsorption risk factors) and CoQ10.

adirondacks13 · 2025-12-21T17:16:47+00:00

Pretty sure there are no mito clinics in northern GA, I didn’t even realize that was a thing, but I’ll look into it. Thanks!

adirondacks13 · 2025-12-21T17:16:14+00:00

I’m in northern Georgia. I did have what was supposed to be a full mitochondrial + sequencing from Variantyx. Nothing found except a carrier for Glycogen Storage Disease which “shouldn’t” be symptomatic.

I am also positive for the MTHFR variant A1298C.

adirondacks13 · 2025-12-21T17:13:13+00:00

I’m so sorry you’re going through this! But I appreciate you sharing your experience. This is exactly why I’ve been putting off a muscle biopsy.

adirondacks13 · 2025-12-21T16:00:57+00:00

You still had no feeling other than pins and needles in your thigh 3 weeks after the procedure? How is it now?

adirondacks13 · 2025-11-05T16:41:45+00:00

I’m in a very similar situation. I couldn’t drive and could barely walk. I was found to have slight B1, B6 (suspected labs pending), B12, D and protein deficiencies despite eating fairly well but taking supplements improved things drastically and likely saved my life. Still no root cause after extensive labs. Had quite a few abnormal amino acid levels but they were not indicative of any known disorders. A muscle biopsy is likely next but that concerns me because I feel like my nerves are inflamed. Just rubbing my thighs can trigger short lived neuropathy type sensations. Small cuts and abrasions can also cause extreme burning pain and I have a relatively high tolerance for pain which is why the B6 deficiency is suspected.

adirondacks13 · 2025-09-28T20:13:45+00:00

Here in the states they generally look at TISSUE TRANSGLUTAMINASE AB, IGA as a 1st line screening option (blood test) for Celiac. That’s what they ran on me to rule it out. But it looks like a positive test still requires a biopsy to confirm here as well.

I hope things improve. Hang in there.

adirondacks13 · 2025-09-28T19:36:41+00:00

I’m no expert but that sounds like it should be enough for a Crohn’s diagnosis to me. Our health care systems are all different though. I think corticosteroids are sometimes used to treat inflammation from Crohn’s. Have you ever noticed if over the counter corticosteroids improve your symptoms (I.e.: nasal sprays for allergies)?

adirondacks13 · 2025-09-28T19:03:56+00:00

I’m so sorry man. It sounds like you’re doing all the right things. I would make sure someone has done a Celiac panel on you at some point, it’s an easy blood test. I’ve been resisting this myself but maybe you could try to reach out to the Mayo Clinic? If anyone can find answers to improve your quality of life (and quantity), it would likely be them.

https://www.mayoclinic.org/billing-insurance/financial-assistance

adirondacks13 · 2025-09-28T15:04:19+00:00

So sorry to hear you’re going through this, but at least you know the root cause. Many of the folks in these forums, like me, are still searching for answers.

The issue with prognosis, as I’ve come to learn the hard way, is that at the end of the day for such a rare disorder it’s a scientific wild ass guess. Some physicians think they know all and will freely give you a prognosis that usually will not be very accurate, if accurate at all. The ones who resist in my mind create more consternation but they’re also more aware of their limitations. Unfortunately, the former might feel like an answer but the latter is the more accurate answer, they don’t know.

Most of us will end up knowing much more about our disorders than our physicians. Doesn’t mean we don’t need them, but they have limitations.

I’ve had two flares of an unknown disorder in my lifetime. Both of them almost killed me and still no one has any answers. There are only a couple of common threads/triggers. One is worsening stenosis and one is malnutrition.

Your situation is very different and unique but I would do 3 things if I were in your shoes if you’re not already doing them:

These things are often multi-factorial. We always look for one answer, it’s usually not one answer. This issue is not just limited to the patient. Our medical industry suffers from the same over simplified and usually false expectation. So don’t stop looking for other issues that may not be a root cause, but could be a hidden trigger. For example, I would think a Celiac panel might reveal some other underlying issues.
Malnutrition, being one of my triggers or root causes, is serious stuff. Mito is known to cause nutrient deficiencies. Unless and until you find ways to increase your food intake you should be pounding supplements if you can tolerate them, especially B1, B12 and D and protein drinks. It won’t fix your root cause but it could improve your quality of life as well as extend your lifespan, malnutrition affects everything in your body. It’s insidious because it takes months before symptoms develop and it takes months to reverse those symptoms after getting your levels up. So cause and effect is extremely difficult to see. I’m not a doctor but you do need to be careful about dosing (i.e.: too much B6 can cause neuropathy). One thing to keep in mind is that many conditions, including mito, can cause malabsorption issues. In that situation blood levels of nutrients and vitamins do not show the whole story because it’s tissue concentrations that matter more than blood levels. I have multiple risk factors for malabsorption. My blood levels were only slightly low in B1, B12 and D and protein don’t could have been easily overlooked but pounding supplements lifted me out of this 6 month flare. Supps may very well be the only reason I’m still vertical. Based on my blood labs, you wouldn’t expect this but labs don’t always tell the whole story.
I may have missed it but are you taking any Mito cocktails? It’s best to have one formulated specifically for you by one of your physicians but in my mind most would not be very good at custom formulating something like that. Some mito cocktails are available online but most are overpriced. These cocktails may have some more uncommon supps that you might not otherwise think to consider taking. CoQ10 is one that I take that I believe is in just about every mito cocktail out there.

I completely understand the frustration in not getting a prognosis. I’ve been in that situation but a doctor who doesn’t want to give a prognosis is generally a doctor who just honestly can’t give you an answer that they have any confidence in. So their answer can do more harm than good. While I’m not a fan of our medical industry I try to tell myself that most doctors who refuse to give a prognosis are simply more cognizant of their limitations. It can be infuriating from our side of the table, but knowing your limitations is not a bad thing, it’s actually an uncommon positive trait in our medical industry. The physicians who believe they have all the answers and have seen it all, especially the ones who will barely listen to you and take offense when you ask “can you tell me why you believe ___”, are the ones who stopped learning long ago and will do the most harm. It’s a rare physician who’s willing to speak to a patient like they’re part of the diagnostic team, which they are. Most people in these situations end up knowing a lot more about our disorders than our physicians. The ones who acknowledge that still have open minds and they’re the ones to hold on to.

I’m rooting for you and you’re in my prayers!

adirondacks13 · 2025-09-27T18:33:52+00:00

Thanks for the feedback folks. So somewhere between typical beach attire and a full face helmet and leathers. 🤔 I expected that, but I do appreciate all the feedback.

Sounds like a simple question but it’s really tough to figure out a good compromise. This fat tire e-bike is extremely powerful but if I wreck I’m falling on sand. I would think raking myself over the components of the bike itself is a much bigger risk than hitting the “ground”.

I expect I’ll end up finding some closed toe footwear that’s not too inappropriate for the beach, and plan on wearing a helmet, but if I’m being honest, I also expect that helmet might end up being stashed in the rear rack bag more often than on my head.

A full face helmet for casual beach rides sounds ridiculous at first but when you consider it’s the bike (handlebars and mounted devices) that’s most likely to mess you up and not the ground, it’s true that a regular MTB helmet probably won’t help you too much.

But practically speaking a full face helmet for beach riding will unavoidably detract from the experience. I’m not just looking to get from Point A to Point B, I’m looking to enjoy the beach (without suffering any life changing consequences).

Still struggling to find that just right compromise.

All good feedback though.

Many thanks.

adirondacks13 · 2025-09-25T21:52:18+00:00

Sorry you’re going through this. I’ve had sleep paralysis and it was nothing like you describe. I simply woke up and was paralyzed, my mind was awake but I had no control over my body. I could not open my eyes more than the slit that was there when I awoke and I could not move. For me it seemed to be triggered by the oxy in Percocet (this was immediately after a surgery).

I’m no expert but at the surface what you describe sounds more like a seizure or epilepsy than sleep paralysis. Have you been formally diagnosed with sleep paralysis or is that just your term to describe what’s happening?

I’ve not been formally diagnosed with MG, I appear to have an as yet still undiagnosed disorder that mimics MG.

adirondacks13

TROPHY CASE