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2 of 63 patients with muscle pain/fibro had Myotonic Dystrophy type 2

pattismith

Senior Member
Messages
3,930
Sorry, that the quest goes on. But, did they agree to the genetic blood test for DM2 to absolutely rule that out?

As you know, my trapezius percussion myotonia also looks like yours. Maybe, this is related to a channelopathy. In my case, no channelopathy SNPs stand out on GENOS, so perhaps related to an antibody?

I would be interested if others could test this, as this may relate to a subset.
Did you have an EMG done yet?

My neurologist concluded that I don't have clinical myotonia, nor electrical myotonia, so I have little chance to be offered a DM2 genetic test. I may do it on my own if I want to rule it out any way.
The fact that there is no early cataract running in my family doesn't favor the DM2 hypothesis either...
 

pattismith

Senior Member
Messages
3,930
Sorry, that the quest goes on. But, did they agree to the genetic blood test for DM2 to absolutely rule that out?

As you know, my trapezius percussion myotonia also looks like yours. Maybe, this is related to a channelopathy. In my case, no channelopathy SNPs stand out on GENOS, so perhaps related to an antibody?

I would be interested if others could test this, as this may relate to a subset.

Do you mean you had a whole exome sequencing by GENOS?
I didn't find any channelopathy in my 23andme, only a CFTR pathogenic variant (it's a chloride/bicarbonate channel, but the variant I have doesn't seem very bad, and is not known to alter the chloride flux, only the bicarbonates).
I too wonder if an antibody could be involved, but my disease started 30/35 years ago and was progressive, so genetic seems more likely to me.
The problem with Repeat Expansion genetic diseases like DM is that they usually don't show up in Whole Exome Sequencing, unfortunately...
 

Gingergrrl

Senior Member
Messages
16,171
I had an EMG done and nerve velocity, and nothing showed up.

I am sorry to hear that the EMG did not confirm your diagnosis. Does this rule it out or is there a chance the EMG results are wrong? When I did the EMG & nerve conduction testing in 2016 for LEMS, it was conducted wrong and should have been a single fiber EMG vs. a generic one.

They also stopped it mid-way through (without me knowing) so I did not get the full test. Lastly, they told me that my test results were "normal" but when I insisted on getting a copy, they showed that my left phrenic nerve to the diaphragm was only functioning at 57% (vs. my right phrenic nerve was 93% which is normal). But I had (and still have) the LEMS calcium channel autoantibody and the symptoms so my main doctor felt that was enough without the positive EMG. I wish I'd had the single fiber EMG in 2016 done by a competent neuromuscular specialist but it is too late now!

I share here my trapezius percussion test (video), in case someone will find the same as I do: https://files.fm/u/kw6q5uwu

Thank you for sharing that with us and it was really interesting.

I didn't find any channelopathy in my 23andme

How does someone look for a channelopathy in their 23andMe results?
 

pattismith

Senior Member
Messages
3,930
@Nine lives

this australian team may have developped a software able to detect repeat expansion from WES datas:

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6008857/

Here the name of the lab (github) and the software (exSTRa), I think you can download the software from this page:

https://github.com/bahlolab/exSTRa

@Gingergrrl

I didn't manage to have my EMG done by a neuromuscular specialist, so you could be right about the quality of the examination. Of course I am not competent to judge, but I do have a copy of the result.

I browse my 23andme datas with the ENLIS software, which is helpful to screen for chloride channel, sodium channels, etc :thumbsup:
 
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junkcrap50

Senior Member
Messages
1,330
Hope okay to post and discuss my questions here.

I have been looking for an answer to my muscle symptoms: muscle aches, lactic acid burning feeling, muscle knots, tight muscles, muscle tension & clenching (having to consciously relax my muscles), fasiculations. It was all caused by taking methylation supplements (Fredd Protocol). Fibro expert says it's fibromyalgia.

My neurologist has ruled everything out (besides mitochondrial issues), but says there's a small chance it could be some sort of hyperexcitability syndrome and prescribed mexiletine. So, I'm considering taking it just for a trial to see if it helps and eliminate that drug.

@pattismith , sounds like you really do have myotonic dystrophy type 2. Did the mexiletine help you? Have some other questions too.
 

pattismith

Senior Member
Messages
3,930
Hope okay to post and discuss my questions here.

I have been looking for an answer to my muscle symptoms: muscle aches, lactic acid burning feeling, muscle knots, tight muscles, muscle tension & clenching (having to consciously relax my muscles), fasiculations. It was all caused by taking methylation supplements (Fredd Protocol). Fibro expert says it's fibromyalgia.

My neurologist has ruled everything out (besides mitochondrial issues), but says there's a small chance it could be some sort of hyperexcitability syndrome and prescribed mexiletine. So, I'm considering taking it just for a trial to see if it helps and eliminate that drug.

@pattismith , sounds like you really do have myotonic dystrophy type 2. Did the mexiletine help you? Have some other questions too.


Sorry, I'm still not diagnosed for my muscle delayed relaxation. My EMG looks fine and neurologists dont buy the MD2 diagnosis. No genetic test done up to now.
I focused on the neuropathy diagnosis. Small Fiber Neuropathy can produce burning skin, but some neurologists think it may produce burning muscles as well. Mexiletine has been helpful in small fiber neuropathy as well, so I wish I could do a trial with it.
 
Messages
90
My EMG came back negative too BTW...

Slightly improved this by upping magnesium even more - 700 mg a day. (My RBC still poor at 4.4).

Maybe some antibodies acting on muscle? My creatine kinase and lactate dehydrogenase are low too.
 

junkcrap50

Senior Member
Messages
1,330
Sorry, I'm still not diagnosed for my muscle delayed relaxation. My EMG looks fine and neurologists dont buy the MD2 diagnosis. No genetic test done up to now.
So sorry to hear that. He still won't let you just trial mexiletine? It's pretty safe (as far as I know). I hope you get some answers and relief.

You describe your symptoms as "burning muscles" not burning skin. Can you describe it in more detail? I know it's hard to describe something vague like pain. But it sounds similar to my symptom, but don't want to assume. Is it a chronic dull burn all over, deep in the muscle (not surface/skin pain)? Is it like a lactic acid build up, exercise burn pain? Do your muscles feel very hot?

When I described my muscle burning that feels like lactic acid build up to my Fibro expert (does research in Fibro) who's a pain/anesthesiology doctor, I was very insistent it was NOT neuropathy pain as I know what that feels like. But she said that some fibromyalgia patients have described their muscle pain the same was I had. But I doubt it was the same(could have been poor wood choice, difficulty describing the pain, etc.)

"Central Sensitivity Syndrome" might be a good search term to use. But I'm sure you have looked into it already. It's newish to me, in that it's much broader that I thought includes a lot of other pain conditions.

After doing deep dive / search in the PR archives, I see you have investigated Ambroxol. I'll ask and post my questions about that drug there. I'm also interested in Dantrolene, as it too is a ion channel bocker and has given muscle pain relief (not just muscle relaxation).

Have you heard of or considered "Central Core Disease"? Genetic defect on RYR1 gene. Presents with scoliosis, joint laxity/dislocation/instability, muscle weakness/fatigueability, hypotonia, and stiffness. This patient had a genetic defect on the same gene but had stiffness, muscle knots, and muscle pain (slightly different symptoms). She was cured with Dantrolene, which works on these ryanodine receptors (Ca channels).
 
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pattismith

Senior Member
Messages
3,930
Last update:

I have been tested for Myotonic Dystrophy type 2 (DM2), and the test came back negative.

I'm glad that this disease is now ruled out in my case, and I wish to look for other genetic or acquired diseases with delayed muscle relaxation.


You describe your symptoms as "burning muscles" not burning skin. Can you describe it in more detail? I know it's hard to describe something vague like pain. But it sounds similar to my symptom, but don't want to assume. Is it a chronic dull burn all over, deep in the muscle (not surface/skin pain)? Is it like a lactic acid build up, exercise burn pain? Do your muscles feel very hot?

yes, I have burning muscle if I exercise to strongly. You call it lactic acid build up, but i prefer not to call it that way.

I also have muscle burning pain during several days after an intensive contraction.


When I described my muscle burning that feels like lactic acid build up to my Fibro expert (does research in Fibro) who's a pain/anesthesiology doctor, I was very insistent it was NOT neuropathy pain as I know what that feels like.
But she said that some fibromyalgia patients have described their muscle pain the same was I had. But I doubt it was the same(could have been poor wood choice, difficulty describing the pain, etc.)

"Central Sensitivity Syndrome" might be a good search term to use. But I'm sure you have looked into it already. It's newish to me, in that it's much broader that I thought includes a lot of other pain conditions.

Central core disease is an inherited myopathy, it can show up on muscle biospy.

Like you I would like to rule out genetic myopathies and muscle dystrophies as well!

Burning muscle doesn't mean you have a genetic muscle disease, I agree with you fibro specialist, and I also agree with her that the burning muscles are very often the result of central hyperalgesia.

I know I am affected with Central hyperalgesia (I prefer to call it this way than central sensitivity).

I know it because every time I had electrical/tingling or burning pain somewhere in my body, I found a real cause behind (nerve contact from cervical herniated disc, oxalate crystals in my urine for example are some events that occurred in my life and that confirmed my hyperalgesia. The central origin is just a supposition that correlate with my daytime sleepiness that is likely of central origin)

Muscle burning pain does not mean you have necessarily a genetic myopathy/muscle dystrophy.

If you have concomitant elevated CPK, (creatin kinase), in that case only you can be sure that your muscle burning sensation is linked to a muscle disease, otherwise you are not.

So if like me, you never show any CPK elevation, you are not likely to have this kind of genetic disease.

On the other hand if you have some Percussion Myotonia (i have it), or if you have Hyperlactatemia (I have it), if you have some muscle weakness symptoms (eyelids ptosis, mandibule ptosis, I do have them),
if you have hypoventilation (high blood PCO2 and high blood bicarbonates like I have),

then it makes sense to look deeper in genetic muscle diseases. (but also metabolic genetic diseases)

Muscle biopsy and genetic testing are the way I wish to go now.

After doing deep dive / search in the PR archives, I see you have investigated Ambroxol. I'll ask and post my questions about that drug there. I'm also interested in Dantrolene, as it too is a ion channel bocker and has given muscle pain relief (not just muscle relaxation).

Have you heard of or considered "Central Core Disease"? Genetic defect on RYR1 gene. Presents with scoliosis, joint laxity/dislocation/instability, muscle weakness/fatigueability, hypotonia, and stiffness. This patient had a genetic defect on the same gene but had stiffness, muscle knots, and muscle pain (slightly different symptoms). She was cured with Dantrolene, which works on these ryanodine receptors (Ca channels).


Central core disease can be ruled out by a muscle biopsy , I wish i could have this kind of test.

Any Way, I did a short trial with Dandrolene and couldn't tolerate it, I got diplopia...:lol:

I tried Ambroxol with some transient positive effect, I tried Mexiletine but didn't see any effect.
 

pattismith

Senior Member
Messages
3,930
a 2017 article I just read with much interest!

Rapamycin, an mTORC1 inhibitor, improved muscle relaxation and increased muscle force in HSALR mice without affecting splicing. These findings highlight the involvement of AMPK/mTORC1 deregulation in DM1 muscle pathophysiology and may open potential avenues for the treatment of this disease.
https://www.jci.org/articles/view/89616