GeneChat

Muscle issues (contracting and not releasing)

#1

I’m wondering if anyone has found out what genes might be involved with muscle issues.
The reason I’m asking is because my muscles tend to contract and not release.
It gets worse when I use the muscles more.
I’m thinking it’s something genetic as I had an uncle with the same issues.
My PT guy suggested looking into Ion Channel Diseases, but there are so many and I can’t sort them out. (I have brain fog a lot because of autoimmune issues too)
My doctors haven’t been very useful at figuring this out, so I’m hoping that someone here might be able to point me in the right direction. My regular doctor is willing to look at things if I can point her in the direction.
This is something that is getting worse as I get older, but I’ve had issues with it since my teens (maybe before, but I don’t really remember).

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#2

I have this issue but my reasons for it may have nothing to do with your reasons for it.

I’m disabled with ME/CFS and I have orthostatic intolerance. My PT says that when it happens on the tops of my feet near my ankles that that is low blood volume, an issue for people with Orthostatic Intolerance.

That said, I have mild kidney disease and retain potassium, I have to consume sodium to help raise my blood volume. Also, if I don’t keep my sodium labs up to the mid range, the orthostatic intolerance is intolerable. One of the first signs that I’m not getting enough sodium is the contractions on the top of my foot. If I get too much potassium at the same time, I’ll have these contractions in other muscles (e.g., hands, hips, etc.).

I don’t know what the real answer is, but I just noticed this connection between sodium, fluid intake, and potassium.

You might want to have your electrolytes measured if this sounds like you. I have severe OI symptoms even if my sodium is in the low normal range. But by the time it reaches the mid range, I’m rarely / barely affected.

The kidney specialist doesn’t know what to make of my mild kidney disease since I have low BP and must consume salt–sort of the opposite of most kidney patients.

Yours might be for other reasons, but I have friends who report the contracting muscles on the top of their feet who have OI and blood volume issues.

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#3

Hello, I have late onset Pompe disease. I was just diagnosed January 2016. It’s a muscle disease.

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#4

Well finally got a doctor to take this seriously.
Tried muscle relaxers, but they do nothing to help the locked up muscles.
Guess next visit we’ll try something else.

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#5

Have the heart issues, but the rest of it doesn’t fit.
Still searching.

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#6

Are you hypermobile by any chance? Hypermobile people tend to get stiff to the point of permanent contractions, as a protective measure to keep their joints in place. There are vids on Youtube by Jan Dommerholt that explain this. It was one of my first symptoms. Many muscles were constantly spasmed up and full of knots. I did not even know I was hypermobile, but it turned out I am in many joints and am now diagnosed with EDS. (Ehlers Danlos)

As eClaire mentions, minerals could have a major influence too (magnesium, potassium), as can your blood volume and ability to keep your blood pressure in check. I was also diagnosed with OH which may just as well be POTS and is seen a lot with EDS and the HMSD’s (former Hypermobility Syndrome)

Magnesium deficiency alone could even cause this, I would look into wether you have other symptoms, blood tests are not so reliable. Supplement 600-800 mg with a well absorbable form like -malate, -taurate, -bisglycinate etc, Oxide is useless. Careful with calcium, because a magnesium deficiency makes the calcium just pile up in your body (bio-unavailable) and increases the relative mag. shortness. Also a mag shortage makes it hard to take up D and potassium, those may show up as secondary deficiencies until your mag levels are ok.

Another thought is to look at serotonin and serotonin receptors, and neurotransmitters in general (MTHFR influences this) esp if you also have insomnia, ibs, brain fog etc. Serotonin has a major influence on muscle tension too.

Genes you could look into are MUSK, and things which have to do with dopamine and serotonine: HTRA1, B, D, F, 2A (see template on Livewello), BDH, DDC

I hope this may help you some!

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#7

Have you had a look at your LDHA genes? Mutations can result in low levels of LDHA enzyme, which can also show up in blood tests. Low levels of LDHA enzyme give problems with energy conversion for skeletal muscles and can give muscle problems during or after exercise.

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#8

I have that, and my functional doc says that in my case it is due to mitochondrial disfunction. As I work on that it has gotten much, much better.

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#9

I have it too. Mine has been diagnosed as mitochondrial myopathy. MUSK is OK. Magnesium doesn’t help. Calcium and Vit. D make me cramp up worse. I will check LDHA SNPs. (I do have some connective tissue disorder, too.)

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#10

Oh, lactate dehydrogenase. No. My lactate is normal but pyruvate doesn’t replenish itself fast enough.

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#11

Periodic Paralysis here. Get magnesium, potassium electrolytes tested. Dr. Teal’s mahnesium soap is great. Magnesium malate is pretty good. (no trots).

#12

Hi Genetic Janet… so far I have a clinical diagnosis of Andersen Tawil syndrome. It is a potassium ion channel disorders. When looking at some of my potassium ion channel data I discovered I have a mutation in my kcnj5 gene but whether it is yet accepted as a cause for Andersen Tawil syndrome I do not know. I also have many collagen defects. I also have lax joints and muscle stiffness. All of my symptoms have responded to the hypokalemia diet and significant supplementation of potassium and magnesium. I just got on here a couple of days ago and I have a lot to learn yet.

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#13

I was interested in these answers I have muscles in my back and thighs which go into spasm and I have to have a lot of physiotherapy to help release them but it always happens again. I don’t know any Doctors who deal with genes and mine says it will be years before a regular GP does. If I know of a snp I can look it up to see if it affects me. Meaning I would not know how to check for a kcnj5 gene just as an example.

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#14

It could just be a magnesium deficiency, that will cause leg cramps and sometimes cramps in other muscles. If the muscles seem to be jerking, that could be too little calcium in the diet. You can just eat a half teaspoon of mustard, it contains isothiocyanates that attach to the energy receptors and dampen energy to the muscle. Cheaper than cabbage or broccoli, way quicker too.