Spasticity...anyone else?

[augustabenard]

Hi! I'm new around these parts and exploring ME, trying to figure out if it might be playing into my diagnosed issues: acute encephalopathy, spasticity and weakness.

I don't have general fatigue, pain or sensory issues, but here's what IS going on...

Immediately after bouts of intense physical activity: spasticity + right-sided hyperreflexia (both diagnosed). Most prominently affects my face, neck, chest and trunk, although I do have more dystonic reactions in my wrists, ankles and feet.

A day or two after prolonged periods of lower-impact physical activity: severe breathing discomfort (not wheezing or gasping - just a feeling of lack of oxygen) followed by short, sometimes clustered episodes of, mostly in this order, full-throated hoarseness > complete closure of the right eye > ataxia + head drop > dysarthria > aphasia > pseudo-bulbar effect + sharp decrease in cognitive ability. Throughout, I get loud clicking/popping in my Eustachian tubes (or upper palate maybe)? Symptoms are much worse when I'm on my back - feels as if my chest and diaphragm aren't working.

The only dx's that seem to be left on the table are atypical MS and upper motor neuron disease, but my symptoms are definitely intermittent, which throws a (hopeful) wrench in things. I usually make a full recovery to baseline, although things have progressed over the past 4+ years, by which I mean my physical activity threshold is much lower and my symptoms during the episodes are much more severe.

Anyone else have this specific constellation?

Sorry to bombard. I know how much distress confusing symptoms can cause, so I ask these questions with the utmost gratitude towards this community.

Best,
M

 

[xebex]

I have a friend who got diagnosed with ALS last year but his profile doesn’t really fit it 100% so they are now considering stiff person syndrome. Might be something to look into? It’s possible it shares similar pathways to ME/CFS.

https://www.healthrising.org/blog/2...romyalgia-the-neuroinflammation-series-pt-3a/

 

[augustabenard]

Thank you so much for the reply - I've actually been tested for stiff-person-syndrome, strangely enough! It was negative. I can't remember the mechanism for that issue, but I think it's a chanellopathy (like periodic paralysis, etc.)? I actually hope your friend finds that SPS is the cause - I think it's treatable.

 

[augustabenard]

I think the main thrust of my inquiry into ME/CFS is whether there are certain subgroups of patients that experience symptoms that almost exclusively mimic neurodegenerative diseases. My suspicion is that if ME/CFS is truly a mitochondrial/energy production issue at its core that perhaps it presents in ways that align with a person's genetic predispositions. For example, if you have a family history of cancer, does ME/CFS put you at extra risk of that genetic switch being flipped? If you have a family history of thyroid disease, do ME/CFS put you at extra risk of THAT genetic switch being flipped. And so on and so forth. I know that environmental factors are always at play and we're not hostage to our genetic profile, but it's been on my mind...

 

[augustabenard]

To clarify...the reason it's been on my mind is because of the intermittent nature of my symptoms. Many neurodegenerative diseases are progressive and pop-up much later in life. But if a younger, otherwise healthy person is having intermittent, downward spikes in energy levels (post-exertional malaise?)...maybe disease expression would follow suit, creating an atypical presentation.

 

[augustabenard]

I have a friend who got diagnosed with ALS last year but his profile doesn’t really fit it 100% so they are now considering stiff person syndrome. Might be something to look into? It’s possible it shares similar pathways to ME/CFS.

https://www.healthrising.org/blog/2...romyalgia-the-neuroinflammation-series-pt-3a/

Whoops! I didn't see the link at first for some reason. So it's definitely NOT a channelopathy - sorry for the confusion. Thank you for the article. It's very interesting!

 

[xebex]

Whoops! I didn't see the link at first for some reason. So it's definitely NOT a channelopathy - sorry for the confusion. Thank you for the article. It's very interesting!

you're welcome! i absolutely think that ME/CFS will align with one's genetic predispositions. but i'm not sure there is any solid proof of that. I also think that a certain genetic profile aligns with the development of ME/CFS, there are some genetic mutations and morphisms that seem common in ME but again, doesn't seem to be 100% that case in everyone. I do wonder how many people with ME have the COMT gene mutation. There seems to be a lot of links with ADHD and fibromyalgia for instance.