Unexplained symptoms

[Clarissa40]

Previously healthy 50 year old female with no existing conditions- I was diagnosed with community acquired pneumonia (negative Covid test) on 3 Sept this year and received antibiotics. The pneumonia began to improve but about 4 days later I began feeling that swallowing was becoming difficult.

About a week later I started to feel short of breath which I hadn’t experienced at the height of the pneumonia but which my doctor naturally assumed was caused by the infection.

Then, approx 10 days later, I started to get feelings of weakness/stiffness in hands first then arms and then legs. I did seem to suffer a period early on where I had unusual psychological/CNS symptoms where I felt very agitated, had sensory overload and became completely unable to sleep - whenever i began to drop off to sleep I would immediately wake with a sudden jolt.

I pretty much spent 6 weeks in bed as I was suffering from general malaise which could explain the muscle atrophy which is noticeable and the loss of about one stone in weight. I now seem to have widespread twitches. Sleeping is still severely impaired, as I am finding it hard to go to sleep with the shortness of breath and when I frequently wake, the shortness of breath becomes an issue.

I saw my GP who was perplexed and referred me to a neurologist. The neurologist did a clinical examination and said that I had general weakness 4/5 and there was some fatigueability on repeated use and brisk reflexes. They did a blood test for myasthenia gravis but said they were expecting it to come back negative and to return in November.

I actually saw the consultant a week early on Wed, as all the symptoms have been worsening with the added symptom of feeling like it was harder to form words sometimes mispronouncing words. He noted same weakness and reflexes. By this point the shortness of breath feels distinctly as if the breathing muscles are restricted and uncomfortable and is there all the time.

It’s getting progressively harder to swallow and I’m becoming more restricted with what I can eat. I had by this time got it into my head that this was some kind of rapid onset motor neurone disease and said as much to the neurologist. His words were “No, this is most definitely not motor neurone disease”. He sent me for an MRI of the brain and spine which was all clear. I see him again on Tues and he has talked about doing a spirometry test and nerve/EMG tests.

I am assuming that if this was bulbar or respiratory onset, because I have some limb involvement that the conduction tests should be able to pick up any abnormalities?

 

[Nikki J]

The emg should show ,yes even if they don’t do any bulbar muscles though I would think they would. Why do they think it isn’t MG? And just fyi 5% of mg cases have negative blood tests.

It sounds like you need pulmonary function testing and perhaps a sleep study. Also a swallow study

Let us know what happens. In the meantime be careful with swallowing

 

[Clarissa40]

Many thanks for replying. They didn’t think that MG really fitted the symptoms as I couldn’t detect any pattern to the weakness i.e. worse in the evening when tired etc. and one of the antibody tests has come back negative. It’s very odd as I was fine before the bout of pneumonia and all the symptoms seem to have developed over a 4 week period. My partner is hanging on to how determined the neurologist was that the presentation didn’t fit MND, the neurologist was thinking it is a possible infection triggered auto immune response but I need the further tests before I can hopefully stop worrying about it. Have been referred to speech and language so hopefully they will organise a swallow test.

 

[Clarissa40]

I am finding that the breathing is getting harder, feels difficult even at rest. This has deteriorated over the last week/few days even and I have uncomfortable tightness/aching in the back/shoulders and sides. I know only the neurologist is realistically going to be able to answer the question but what do you think about the symptoms and the fact that everything appeared over 4 weeks - could this be a presentation of als?

 

[lgelb]

I doubt it. You could have reacted badly to the abx or have a secondary infection or a new onset sleep disorder like RLS. Any of these could be compromising your breathing in sleep and starting a cascade such as you describe. Of course, a neurologic explanation is also possible but I don't think ALS is it, nor, evidently, does the neurologist.

While you await further investigations, a wearable to record your pulse/sats/sleep patterns/movement could be revealing. If you don't have one, maybe you could borrow a friend's.

 

[Clarissa40]

I have considered the antibiotics as a possible cause. I was given Levofloxacin which I have since read can cause some fairly horrific and long lasting adverse reactions affecting the CNS and the autonomic system. I believe there have been some big court cases over in the US? Is it possible/likely for breathing problems, dysphagia and muscle weakness/stiffness in hands, arms, and legs to begin pretty much all at the same time with ALS? Is there any evidence that a drug with known mitochondrial toxic side effects can trigger ALS? I am trying really hard to keep a handle on my anxiety as I know that will make breathing worse but it is difficult when you have a wait between appointments.

 

[Nikki J]

No it isn’t the pattern of ALS to start all over. I don’t believe there is any evidence that levofloxacin triggers ALS

 

[Clarissa40]

So I had my follow-up yesterday. To recap, I saw a registrar neurologist originally on 8th Oct who noted general weakness and fatiguability possibly of the eye muscle and took blood tests for Myasthena Gravis (negative).Then I saw the consultant neurologist last Wed who I received limited feedback from, but I have now learnt that he saw no clinical signs that he was worried about. I had a follow-up yesterday with the registrar neurologist who agreed that there were no clinical signs upon examination that would make them think of ALS. Because of this they have decided they don’t need to do an EMG.
The trouble is, my breathing is getting more and more difficult, almost worsening by the day. It feels as if it is restricted by the muscles or as if my diaphragm isn’t working properly and the muscles in my back below my shoulder blade spasm and twitch if I try to breathe in deeply, but I don’t know if this is how it would manifest. The breathing issues also seem to be making the swallowing difficulties worse. I have read here of several atypical cases where respiratory problems have occurred early on. I don’t seem to be able to get the neurology team to see this as a possibility. Is it your experience that neurologists can often stick to the more typical presentations as a benchmark and determinedly ignore anything that doesn’t fit that?

 

[Nikki J]

Respiratory onset is rare. About 5% of ALS. It can be ruled out by pulmonary function testing which I expect your gp could order.

This has never sounded like ALS to us Apparently it doesn’t look or sound like it to your neurology team

 

[Clarissa40]

I am at a bit of loss to know what to do. My neurologist has referred me for lung function and swallowing tests but as this is the nhs these will be weeks or months away. I am continuing to get worse. The weakness in my arms and legs, accompanied by stiffness and the strangest aching is worsening particularly on my left side. I have twitches and muscle pain in my upper back and shoulders. I have muscle twitches mostly in the legs but also frequently body wide. I feel like I am constantly struggling to breathe even during the day and at night I wake almost as soon as I fall asleep with a sense that I am barely breathing and feeling a sense of dread and unwell. My O2 drops to 90-91 during these times and I’m barely sleeping 1 to 2 hours a night. I cannot seem to get any medical professional to understand that I’m finding it really hard to breathe because it feels as if the breathing muscles are not strong enough. They check my O2 which is usually around 98, check my blood pressure,heart rate and temperature and declare me to be fine.

If there is a problem with my respiratory muscles, and it was due to MND how is this going to progress? Will there be obvious signs that the muscles are failing and would I deteriorate quicker if nothing is done about this at this stage? I am somewhat alarmed by how fast I seem to be deteriorating. I would appreciate some advice, many thanks.

 

[lgelb]

Again, you can track your own sleep, including average sats, to have some data for your GP with an eye toward ordering a sleep study (which can be done at home) if needed. And pulmonary testing as mentioned above. You can even buy an inspiration spirometer and test yourself.

I doubt you are only sleeping 1-2 hours a night, if your vitals are fine. Of course, you can also consider humidification (after ruling out dust mite allergies, which worsen in high humidity), a nasal steroid, an extra or different pillow, etc.

As you track your sats, your pulse can also be revealing, and an EKG may be indicated if there is significant tachycardia (that can influence that dread and unwell feeling). You might need medication for that apart from any sleep issues. Likewise, if you have significant abnormal movement in sleep, that would be another indication for a sleep study.

I am not doubting your distress. But it's not down to ALS.

 

[Clarissa40]

Am I not right in thinking that O2 stats can remain high for some time even when there is a problem because it the build up of CO2 that is causing the problem? I always have a headache when I wake from the brief periods of sleep I am getting. I am also constantly losing weight virtually every day. Although swallowing is hard, I am managing to eat a reasonable amount and I am bedbound because I am very weak and the breathing is made worse by any exertion, so I am not using the calories due to movement.
I have managed to arrange a lung function test for Monday with a private respiratory consultant.

 

[lgelb]

Yes, when I mentioned "vitals," I was not thinking of O2, but rather pulse, respiratory rate, and blood pressure. These are all more sensitive to CO2 buildup than sats.

I expect your tests will be reassuring as regards ALS. If so, certainly solicit other recommendations or thoughts from the consultant.

 

[Clarissa40]

Have received results of lung function testing which the respiratory consultant says is completely normal and after a CT scan with contrast of my chest, the respiratory consultant is at a loss to know what could be causing me to experience difficulty breathing. He is referring to cardiologist as precaution. Still waiting for swallow test and then referral back to neurologist.
I am assuming that these results would pretty much make it impossible for the difficulty breathing to be caused by ALS?

 

[Nikki J]

Correct