Possible root cause identified? MYLK Mutation

[eddyrms97]

After 13 years I believe to have found the root cause of my disease which began with brain fog at 13 years old, POTS at 18, Orthostatic intolerance at 23, PEM at 24, CFS, dysautonomia, peripheral autonomic neuropathy, severe heat intolerance SIBO and gastric issues at 25.
After years of putting off EDS genetic testing due to fears of it being vascular(I have almost every feature of vascular EDS except any acute dissections or facial features) I finally manned up and did Connective tissue panel.

The results were negative for all testable EDSs' however positive for a mutation in MYLK gene. I wasn't very far off with my initial suspicion, I was looking at the wrong layer(connective tissue).

MYLK codes for Myosin Light Chain Kinase, phosphorylator and activator of smooth muscle cell contraction.

MYLK deletions and mutations are known to lead to multisystemic smooth muscle disorder and aneurysms/dissections.

A dysfunction in smooth muscle cells would explain 99% of my list of 30 or so symptoms and issues. Just to list some of the main ones:

-reflex tachycardia/pots( EXPONENTIALLY worse with heat as excess vasodilation from impaired vasoconstriction)\
-PEM(EXPONENTIALLY worse with heat)
-severe blood pooling
-lightheadedness
-severe brain fog
-gastroparesis/Sibo: impaired digestion, explained by GI smooth muscle dysfunction
-large pupils- iris composed of smooth muscle, impaired contraction leads to large pupils
-Sleep apnea
-hypohydrosis- symptom of smooth muscle dysfunction
-peripheral autonomic neuropathy


I am in the process of seeing specialists to further investigate whether this truly is the root cause of my disease. Although I am not too hopeful as the Drs' current strategy is to rule out thousands of other diseases rather than to prove Smooth muscle Dysfunction by testing function/expression of my MCLK enzyme.



thank you for reading and I would love to hear any insights or any alternative ideas as I know it's possible this isn't the root cause of my POTS/OI/PEM/CFS but deep down I feel like this is what is going wrong.

 

[lenora]

Are other people in your family victims of EDS (and may not know it). Usually the appearance can lead to testing in that particular direction. Good luck as you try to put the pieces of the puzzle together. Yours, L.

 

[eddyrms97]

Are other people in your family victims of EDS (and may not know it). Usually the appearance can lead to testing in that particular direction. Good luck as you try to put the pieces of the puzzle together. Yours, L.

Hey Lenora, not that I know of although it is possible that a collagen disorder could also be at play making the symptoms much worse. My dad also has the MYLK mutation and he’s had mysterious symptoms his whole life but no where near as severe as mine. But it is very common for people with the same exact mutation to have much different presentation of phenotypes.

 

[Bobbi007]

Hey Lenora, not that I know of although it is possible that a collagen disorder could also be at play making the symptoms much worse. My dad also has the MYLK mutation and he’s had mysterious symptoms his whole life but no where near as severe as mine. But it is very common for people with the same exact mutation to have much different presentation of phenotypes.

Has anything helped you? I also have a lot of those symptoms. Vasodilation

 

[lenora]

Good Morning All.....Thanks for your responses @eddyrms97 and @Bobbie007.

Since I had so many back problems when I was a child, severe kyphosis, lordosis and worst of all, scoliosis, I have to assume that I also have EDS. Actually, I have a whole body experience and find it amazing that I'm now 76 years old. I have problems everywhere....heart problems, also. 7 stents later I'm doing OK, not great, but OK.

My scoliosis, etc., isn't too visible now. Clothes always fit, that sort of thing, but I couldn't sit @ age 3 without the help of plaster casts and braces. I walked a lot as a child (everyone did, one car per family) and I firmly believe it helped strengthen my muscles and back. I don't have a rod.....so it was all the really old-fashioned way. Symptoms have changed over the years. Yours, Lenora

 

[eddyrms97]

Has anything helped you? I also have a lot of those symptoms. Vasodilation

Nothing has.
I fear that whether it’s lax tissue from a collagen disorder or just excess vasodilation from some sort of neuropathy, once the vessels have expanded to a certain level they will never return to normal. I imagine this is a progressive thing. And I truly believe it is the root cause of all my symptoms: POTS, PEM, impaired gastric, SIBO, etc

 

[Bobbi007]

I’m on my way to POTS . Heart rate has steadily been increasing. What’s up with your gastric issues? Constipation issues or frequent BM’s?

 

[eddyrms97]

I’m on my way to POTS . Heart rate has steadily been increasing. What’s up with your gastric issues? Constipation issues or frequent BM’s?

Poor gastric motility. Whatever is making my blood vessels not function well is also affecting motility of the small bowel. They’re made of similar layers, connective tissues and smooth muscle. Over time the poor motility has made the perfect environment for bacterial overgrowth so now I have severe distention after any meal no matter how small. Also lots of tachycardia after eating, since a lot of the blood is displaced to the bowels the rest of the body isn’t getting much.

 

[Bobbi007]

It’s so strange because I have all your symptoms but I am going to the bathroom more. Also, the more I come off my medications (that are vasodilators) the more my heart rate and bp are increasing which is odd because I’ve always been low bp and you’d think I’m so vasodilated id have lower bp….