Body wide fasciculations a few months after confirmed respiratory muscle weakness

[Pubh12]

Hello everybody

I’m a 29 year old male who’s suddenly had major issues breathing. I have Ehlers Danlos , POTS, recently had a tethered cord release in May 2022 and have been diagnosed with Atlantoaxial instability - however it’s the controversial diagnosis from the cci experts and not only a handful of surgerons in the world deal with it and most deny its existence)

So my breathing issues started in late November and have not given me a moment of peace since . I wasn’t feeling great leading up to it. In fact , i fell at the pharmacy because i was feeling super weak, before the noticeable weakness in breathing occurred. I had recently started Fludrocortisone during this time. I feel this is relavent and I’ll explain in a minute.

Anyway, i finally got testing done for my respiraotry muscles and it was not good. Inspiratory and exploratory forces and all that stuff was terrible. Wasn’t even getting half way to where It was supposed to be although I don’t have the exact numbers. It’s very difficult to breath constantly , swallowing is harder, some tiredness chewing to to the point it’s hard to finish meals. Im losing weight. When I lay on my right it’s harder than on my left to pull air in. Ofthen even a wheeze will present on exhale despite no asthma which I’ve been worked up for. I wake up a lot not being able to breathe or claim I’m choking. It feels like muscles in the upper airway and supporting properly when I’m on my side. Fluid collects in my airway all the time as well.

So around the end of Feb i started to get full body fasciculations. Butt, legs, arms, face , neck , chest. I think I was having them before to a degree but not like this. It’s not like those videos where it looks like their arms are crawling with a million worms but it’s very constantly popping up everywhere. Some will hit like 8 or nine times and some will hit a couple times. Upper legs and upper arms the worst. Occasionally the toungue but not really crazy fasciculations on them. Fingers and thumb a lot too. I have a video of my leg but won’t post for now.

If I try to do a full belly breath it’s very difficult.

I have muscle atrophy in what seems like both legs around the knee.

The thing I struggle with is I’ve been sick since summer of 2019 with weakness that I’ve always attiributed to the cci/ tethered cord. Also i thibk undiagnosed cushing syndrome might have played a role.

Cushing syndrome- I think I may have had this for years. Ever since I got sick a few years ago I had those supra clavicle fat pads and insane bouts of what felt like “cortisol dumping”. I’ve had proximal muscle weakness and slight issues with diaphragm breathing but nothing that really caused me much concern. A doc in the summer mentioned my fat pads looked like cushings and gave me a cortisol urine test that came back negative. However it can be cyclical and it doesn’t necessarily rule it out. And in terms of weakness I was doing okay at that time. Not perfect but as good as I usually got.

So i had been prescribed Fludrocortisone that summer and had been hesitant to try it. Finally sometime in early Nov i said screw it ill give it a fair shake and try to take it consistently. I hadnt thought much about the prior doc thinking I had cushings (because of marfanoid habitus I’m not a typcial presentation anwyay ). So after I started it I was getting progressively weaker. Then I fell. By late novemebr I was googling things like “three day asthma attack” and stuff like that. I stopped it first week of December so I might have been on it a month if that. Hoping the breathing would resolve after that- it did not. And now I have confirmed weakness in the respiraotry muscles.

It’s not typical of cushings - something I don’t even know if I have for sure- to cause major respiratory issues. Or body fasciculations from my research. In Jan they gave me a taper dose of prednisone as well for suspect asthma and that made me feel awful. Breathing was already bad before it though.

I really want to (and have been) chalking this up to possible cushings (i have a pee test to do again sitting next to me that I’ll bring in Monday) but the severity of my breathing and body wide fasciculations just doesn’t seem to fit with it despite the timing of it. Especially since the fasciculations started bad a month and a half after the last prednisone (Jan 15) and Fludrocortisone (Dec 5?).

Proximal muscle weakness got worse on Fludrocortisone i believe - but I’m not sure diaphragm and respiraotry or neck muscles typically count in this and it doesn’t seem to happen to most people I ask.

I have an EMG at the end of the month at least.

Reasons I’m considering als- Confirmed respiraotry weakness that started in Nov followed by body wide fasciculations starting late Feb and no improvement discontinuing corticosteroid drugs. Atrophy of legs as well. But the body wide fasciculations really made me pause and have to consider this a little more. I know it’s not the end all be all but I csnt help but be worried a bit. No real diagnosis of cushings and no respiraotry involvement typically seen.

I think I covered most everything - if anyone’s willing to talk it out with me I’d be very appreciative

 

[lgelb]

I'm not clear who's managing your care, but for example if you have symptomatic atlantoaxial instability (a pretty well recognized phenomenon, in all the textbooks), I would seek both a medical and surgical referral as to next steps, at least monitoring.

Likewise, if you have clinical respiratory impairment, that would typically be managed by a pulmonologist. The need for BiPAP is increasingly recognized for CTDs such as EDS, so you might ask about that.

Obviously, ruling out Cushing's and other endocrine disorders is desirable. I would note that not everything needs to have a single cause. The perceived respiratory issues may not relate to fascics [though both/either can certainly be associated with POTS -- you might need different meds] at all. I don't see ALS on the table here.

Best,
Laurie

 

[Pubh12]

I have been recommended for surgery in the last and I think if I have a clear emg I’m going to go. I appreciate your input. The surgeron didn’t really think the breathing was due to it but said I couldn’t be sure unless we do it.

I just did the pulmonary testing last Wednesday and should hear something from someone this week regarding the results I hope.

If this is a hypothetically a respiratory onset als (not saying it is) is that still going to show up on an emg ? Should I request certain respiratory muscles or bulbar muscles be tested as well?

 

[KimT]

Let the neurologist decide which muscles should be tested. If it is ALS, your EMG will show specific patterns that are widespread (many muscles.)

It doesn't sound like ALS so just let your doctors advise you what's next.