Muscle fatigue/weakness, fasciculations

[concern3d]

I want to share my story. I have seen many doctors in many specialties (including many neurologists), and nobody can help me. I'd like to ask (1) if this sounds like ALS, (2) if this sounds like another motor neuron disease of any kind, or (3) what else it could be and where else I might look for answers in hopes my condition can be treated. I’ve read the sticky posts at the top of the forum (including the “What It Was When It Was Not ALS” part) and have already ruled out many of those conditions with testing. I’ve also read as many publications and have watched as many videos as I can get my hands on to educate myself.

I have tried to [source] [articles] in my post below, so you can see what I’m referencing when possible.

The week of March 11th, I noticed my nose started running on Monday, and that week I started to have a fasciculations. The fasciculations started in my shoulders within a day or two spread to be throughout my body, in all four limbs, my trunk, and my facial area. This is the first time I have had fasciculations in my life. I have read that fasciculations in ALS or MND (motor neuron disease) are abrupt and widespread. [1][2][3][4]. This same week, I was having intermittent tingling in my distal extremities (more on that later), and I remember that I was more sensitive to cold sensations on my foot than usual (this has since resolved). Later that week, I was seen in the emergency department for what I believed at the time to be spinal pain (in hindsight, I think it was muscles around my spine causing the pain), and during that visit I also had my right arm fall asleep for about 2 hours – the arm was numb to some senses, but not to pressure. While most people seem to not have sensory symptoms, I have read that ALS can present with sensory neuropathy. [5] Around the same time the fasciculations started, I began to notice muscle weakness– this is now my chief complaint. The paragraph below will explain more about the muscle weakness.

The weakness in my muscles is fraught with ups and downs. It seems to be getting progressively worse over the past 4 weeks; it is relapse/remitting and progressively worse – meaning, it gets bad, it gets better, it gets worse than bad, it gets better for a day, it gets worse than worse than bad, repeat. I used to exercise very much in January with no trouble (I’m a male in my late thirties), but now I have trouble even shoveling snow or walking long distances – my muscles get overly fatigued and then weak without much exercise at all. And, I have seen that this is another ALS symptom. [6] [7]. The first I noticed muscle weakness was when I was doing some house work and my neck and shoulder muscles were more fatigued that I would have expected for the amount of work I did. Now, the weakness and fatigue-ability is even worse. I have also had more than one occasion where the weakness has been so bad that I thought I would be paralyzed very quickly, only for it to get better (and then bad again). There have been times where it has felt like my muscles were “slower” to move (no other way I can describe it), and I'm not sure if this is what doctors call spasticity or not. If I had to summarize the muscle weakness, it feels like I am being slowly paralyzed in all limbs. The muscle weakness is about equal in all four limbs as of March, 2019. It all came on quickly.

Backing up in time, all my symptoms started in January of 2019. It started with tingling in my left distal extremities, tinnitus (ringing in both ears), and some "ocular migraine" -like symptoms. In particular, my vision had what I called "heat waves" in the peripheral, and in hindsight I think this could have been due to muscles shaking my eyes. It was only in late March of 2019 that I was put on nortriptyline, which seems to have stopped the sensory symptoms and vision symptoms, but motor symptoms (muscle weakness and fatigue) are now the problem. I have also developed what I believe to be an action tremor, and my face will tremor when I hold a smile for any period of time or scrunch my nose -- almost like my facial muscles are giving out on me. There is no tremor at rest.

More recently in late March, I also lost my appetite and vomited each morning for about a week. In April, my appetite is back but I’ve now started having drenching night sweats, which I have to literally get up and wipe off with a towel. I’ve read that night sweats are another early ALS symptom for some. [8]. My night sweats have since stopped as of mid April, 2019.

I have had numerous tests. Negative tests were: a Lyme disease blood test, EMG (both nerve conduction study and listening electromyography needle), lead, zinc, iron, sed rate, CRP, thyroid, vitamin B1, vitamin B6, rheumatoid factor, anti-SSA/SSB, ACE/angiotensin, complete blood count, and a comprehensive metabolic panel (sodium, potassium, calcium, etc.). Some tests were positive/abnormal: vitamin D (for which I was prescribed supplements), and a QSART (Quantitative Sudomotor Axon Reflex Test). The technician performing the QSART test was fiddling with the attachments after the test started, and I’m not convinced that one was accurate – but it did show abnormal findings. These tests were all in the past three months.

I should also note that I’m having autonomic symptoms. In particular, there are times when my tinnitus will increase in volume and one or both ears will become bright red, sometimes with my face also becoming flush and other parts of my body feeling warm. It is these times that my muscles feel even more weak and fraught with tremors, while these other symptoms are happening. I have read there is a thing called “red ear syndrome” [9], but my ears don’t hurt when they turn red – they simply get very warm and very bright red, for minutes to hours. Frequently when this happens, my heart rate and blood pressure also increase. I have read that ALS can involve the autonomic system. [10][11][12] I have also had an incidence where my sense of smell felt different (hard to describe), almost like the air was “hard” (no other way I can describe it). Again, I’ve read that olfactory dysfunction can be another ALS symptom. [13]

All roads seem to lead to ALS, and the doctors can’t find anything else wrong with me.

Does anyone have ideas about what may be causing this if it's not ALS and how I can get better? Or, does this seem like ALS? I’d be glad to answer any clarifying questions anyone has, and I’d be interested to hear others’ stories of how their early ALS symptoms presented. I’m concerned it’s just very early in the disease for me. Thanks, in advance, for any ideas you can offer.

[1] https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2077699/
[2] https://pn.bmj.com/content/13/3/153
[3] https://hal.archives-ouvertes.fr/ha...www.ncbi.nlm.nih.gov/pmc/articles/PMC2117693/
[7] The ALS Association
[8] https://www.als.net/forum/Default/?g=posts&t=53836
[9] https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3850925/
[10] https://www.ncbi.nlm.nih.gov/pubmed/16155429
[11] https://www.ncbi.nlm.nih.gov/pubmed/25211238
[12] Autonomic nervous system dysfunction in motor neuron diseases | Rare Diseases Research & Treatment
[13] https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6093848/

 

[KarenNWendyn]

I’m responding without having watched your videos because I do not feel they are relevant. You do not have ALS.

You mention all sorts of sensory symptoms including numbness and tingling. You mention perceived weakness. You also mention you had an EMG and that it was normal.

Why do you assume “all roads lead to ALS”? No they don’t. Not these roads.

First of all, ALS is a disease of motor neurons. There are no sensory symptoms. Secondly, perceived weakness is not the same as true weakness demonstrated on an exam by a neurologist.

And finally a normal EMG clears you of ALS.

So keep working with your doctors. But you don’t have ALS and you don’t need to be here.

 

[lgelb]

Agree w/ Karen completely that you are on the wrong track, concerned. There could be multiple conditions at play, and of course all these manifestations can feed off each other, but there's no "slowly feeling paralyzed in four limbs" in ALS. Assume MG and GB have been ruled out by testing and/or history.

You're in the wrong place -- a great thing. You need a good internist who can parse all this with you, but it's not ALS. If you are on a TCA and have high BP, that can worsen it and have other autonomic implications as well. So it might be time to talk about starting/better antihypertensives, for example, and/or tapering off the TCA. Again, an internist should be your first port of call.

Best,
Laurie

 

[Vincent]

A runny nose? Surely you are kidding. There is nothing I see in your post that says ALS. Please find somewhere else to work out your neuroses.
Vincent

 

[concern3d]

I appreciate the replies very much -- it means a lot to me!

I have an upcoming neuromuscular appointment and will update this thread to let everyone know what happens at the appointment. I'll also come back to this thread and update it over time, so that others can see what happens in the future with these symptoms, over time. I think it's valuable to have the historical information reported back. Hopefully others might appreciate that. I do have a couple of follow-up questions, if you would be so kind as to consider them:

1) My doctors just recently tested me for MG, and I'm waiting on the results.
Separately, does a negative nerve conduction study and EMG rule out Guillain-Barre Syndrome?

2) There are several publications (like here: https://www.ncbi.nlm.nih.gov/pubmed/4056836) that ALS patients can present with paraesthesia or fasciculations. Is that not the case, and/or is there more up-to-date research on this topic? It seems like many people are interested in pre-clinical and subclinical presentation.

3) If I am healthy, I'm interested in volunteering some of my time to the local ALS chapter or in some other way to ALS research. Just thinking about this has significantly impacted me. Is there anything in particular that those suffering from the disease would find helpful? What's the best way to give to others?

Thanks again for your time and thoughtful consideration.

 

[KarenNWendyn]

To answer your questions,

1). Guillain-Barre is a neuropathy, unlike ALS which is a brain disease. Electrodiagnostic studies (ie, electromyography and nerve conduction studies) in G-B should show abnormalities on the nerve conduction part of the test with corresponding changes in the EMG consistent with acute denervation. In ALS, the nerve conduction test is typically normal and the EMG shows acute and chronic denervation with reinnervation. So the two are very different. Also the reflexes tend to be absent in G-B.

2. ALS does NOT start with paresthesias (numbness and tingling). Fasciculations in the absence of muscle function failure are nonspecific, common, and meaningless.

3. Donations to the ALS association, ALS TDI, or to this forum are always welcome and appreciated.

Finally, since your presentation does NOT suggest ALS AND you are planning to see a neuromuscular specialist, I would ask you to refrain from further posting until AFTER that appointment.

 

[concern3d]

I can't offer much help because I haven't been diagnosed with a disease, but I'd like to ask a question about the DNA testing --

How did you get tested for rs10122902?

I had some DNA testing done and wasn't given information about rs10122902, so I'm interested to learn how you had rs10122902 tested. There's a great explanation of ALS genetics in this video (at 1h 20m and 52s into the video) that is updated in the 2016-2018 time-frame with new genetics. It would be interesting to me to learn more about all of these.

I'll let others reply with more insights, but I wanted to simply mention this information about genetics and ask about your rs10122902 test.

 

[grounded]

As far as I am aware, genetics testing of any kind isn't routinely done - at least not at my clinic. However, I was tested for C9ORF72 as part of a research project - negative for me.
Also, at my last visit in March, they drew blood for a clinical trial/research project of sorts - to look for all known ALS related genes & maybe look for new ones. The results should be available at my next visit in September.
There are many gene anomalies associated with ALS. Not sure why you are asking about one in particular?

 

[concern3d]

I'm writing to follow-up on my neuromuscular appointment.

First of all, I'd like to thank everyone for your time and help. Your help means the world to me.

Second of all, I'd like to mention that I've taken steps to address the anxiety I have around my health issues that started in January. Specifically, I've started anti-anxiety medication, I have an upcoming session with a psychologist, and I've started other therapy to help with anxiety. I've learned that whether or not I have a devastating disease, I shouldn't waste precious moments worrying about things I can't control. It's a work in progress, but I'm working on it.

That said, I am interested in planning ahead and treating things that can be treated. MY ASK FOR THOSE READING THIS: if you have any ideas at all about what I can ask my doctors or what tests I can get to find answers, treatments, or cures, please let me know. Any and all ideas will help at this point. Similarly, my promise to you is that I'll update this thread from time to time if I find treatments or cures for these symptoms.

I have new tests that were ordered, and then I have another upcoming neuromuscular appointment. I'll update this thread again as I continue to learn more from the tests and then have the next follow-up neuromuscular appointment, so others can see if I recover or determine the cause of my illness. Now, on to the details of my last neuromuscular appointment, my new symptoms, and the new tests that were ordered, etc. --

New tests that were ordered include:

* PTH Intact Blood: CAME BACK NORMAL
* Ionized Calcium: CAME BACK SLIGHTLY ABNORMAL
* Ionized Calcium was ABNORMAL, 1.33 mmol/L with a reference range of 1.08 - 1.30 mmol/L
* Normalized Calcium was NORMAL, 1.28 mmol/L with a reference range of 1.08 - 1.30 mmol/L
* Voltage Gated Potassium Channel Antibodies: CAME BACK NORMAL (9 pmol/L with reference range of 0 - 31 pmol/L)
* Skin Biopsy for Neuropathy/CNL: WAITING ON RESULTS
* Neuro Cardio Autonomic Refex w/wo Tilt: WAITING ON TEST TO HAPPEN

My new symptoms since last post include:

My sensory symptoms are gone, and it's just motor symptoms and tinnitus now. In particular, I have fasciculations, cramps in my calves every day (not at night, just during the day with use), and subjective bilateral muscle weakness with exertion, both proximal and distal. I have noticed cramping in other areas (such as my wrist or neck muscles) with use; I believe the reason my calves are cramping every day is because I use them when I walk around. The tinnitus is in both ears and varies in intensity but is present 95% to 98% of the time (since January). The motor symptoms are new as of mid-March, 2019 and are my primary complaint, now. I no longer have any of the numbness or tingling that I had since Jan/Feb/March, 2019. I also have what I call an action tremor and a neurologist calls "tremulous" if I use my muscles too much and they become fatigued. The tremor also happens when I smile and hold the smile for 15 or 30 seconds; I don't know if this is like the "quiver" I've seen others mention in the forums. This is effecting my life because I can no longer exercise or even walk long distances without becoming extremely fatigued, whereas back in January I was running miles at a time, every day. The tinnitus is also bothersome, and the fasciculations remind me of my health all day, now. All the energy I used to put into working out and eating right now goes into thinking about why I can't walk any distances without cramps / tremors.

What the neuromuscular doctor said:

They are "confident" I don't have ALS or any other motor neuron disease. I asked how confident, and their reply was just "confident" and "never say never." After I explained to them all my symptoms, they did a very, very thorough clinical exam and didn't notice clinical weakness.

What I would really, really appreciate help with:

I don't know where to go for help or what to do next. I feel like I'm almost "tested out," but yet I'm not ready to give up searching for answers. If you have any ideas for what to look for next or any tests that can help to determine what's wrong, please share your ideas. I'm in a top-rated health system, but doctors (being only human) are running out of ideas and haven't been able to provide me with any answers whatsoever.

I've included below a list of tests I've already had, to give you a sense of where I've been since January, 2019.

* Abnormal Tests:
- VITAMIN D 25 HYDROXY (tested twice, 15.4 ng/mL and then 29 ng/mL)
- HYPERCOAG DIAG PANEL - raised concerns for antiphospholipid antibodies or lupus anticoagulant antibodies, but "inconclusive"
- PLATELET NEUTRALIZATION - same concerns around antiphospholipid antibodies, etc.; part of the same set of tests
- Creatinine (low) on Basic Metabolic Panel
- QSART - raised concerns for small fiber neuropathy
- BUN and Creatinine (low) on Basic Metabolic Panel

* Repeated Tests w/ Different Results:
- HIAA-5 QUANT 24H UR - first abnormal then normal

* Normal Tests:
- ALPHA FETOPROTEIN BL
- METANEPHRINES 24H UR (Metanephrine)
- METANEPHRINES 24H UR (Normetanephrine)
- METANEPHRINES 24H UR (Tot Metanephrine)
- METANEPHRINES, FREE PLASMA (Metanephrine, Plasma)
- METANEPHRINES, FREE PLASMA (Normetanephrine, Free Plasma)
- Acetylcholine Recept/Binding (ACETYLCHO R BIND AB)
- Acetylcholine Recept/Blocking (ACETYLCHO R BLOC AB)
- Acetylcholine Recept/Modulating (ACETYLCHO R MOD AB)
- Electromyography (EMG) and NCS
- SED RATE (WSR)
- C-REACTIVE PROTEIN (CRP)
- Free T4 (T4 FREE/FREE THYROX)
- Fluoride, Serum (FLUORIDE BLD)
- PHOSPHORUS INORGANIC
- FERRITIN BLD
- CBC
- Magnesium
- VITAMIN B1/THIAMINE, WHOLE BLD
- LEAD BLOOD
- ZINC BLD
- Vitamin B6, Plasma (VITAMIN B6/PYRIDOXIN)
- SED RATE (WSR)
- C-REACTIVE PROTEIN (CRP)
- RHEUMATOID FACTOR BL
- ANA by EIA (ANA PANEL BLOOD SCRN)
- Anti-SSA (BLD)
- Anti-SSB (BLD)
- ACE/ANGIOTENSIN BLD
- CBC + AUTO DIFF
- COMPREHENSIVE METABOLIC PANEL
- Magnesium
- CK CREATINE KINASE
- Magnesium
- Magnesium
- CBC + AUTO DIFF
- TSH BLOOD
- DILUTE RVVT (DRVVT Screen, DRVVT Confirm, DRVVT 1:1)
- Thrombin Time
- FACTOR V LEIDEN/PCR
- PROTEIN S IMMUNO (Tot Pro S and Free Pro S)
- CBC
- PROTEIN ELECTROPHORESIS RANDOM URINE W/INTERP
- PROTEIN ELECTROPHORESIS W/INTERP
- FOLATE SERUM
- TSH BLOOD
- LIPID PANEL BASIC
- ANA BY IFA SCREEN
- HGB A1C
- C-REACTIVE PROTEIN (CRP)
- ERYTHROCYTE SED RATE
- VITAMIN B12 BLOOD
- SPINAL MRI
- BRAIN MRI - was "unremarkable" with chronic T2/FLAIR WMH in left temporal poie
- HEAD CT WITH AND WITHOUT CONTRAST TO CHECK BLOOD FLOW
- Lyme disease test was in there somewhere, can't find it, but it was normal

Thanks again. Your time and help means the world to me.

 

[KarenNWendyn]

You’ve seen a neuromuscular specialist who was “confident” you don’t have ALS. Great! I’m assuming the EMG was clean in so far as ALS. If you’d like to post a copy of your EMG with identifying information blacked out, we could take a look at that.

As far as asking us what else it could be and where to go next and what to do, that is really not our function.

You are seeing doctors who have examined you, tested you, reviewed your records, and (presumably) discussed your case among themselves. Please work with them. They are your advocates.

This forum is here primarily to assist people with ALS, their families and caregivers, and people who have lost loved ones to ALS. For people worried that their symptoms may suggest ALS, we’re here to answer a few questions, and those on this forum who do so are giving of our time and limited energy. We can not substitute for a real live doctor who can examine and test you. It really is not fair for you to expect us to do more, especially when a specialist has already cleared you of ALS.

 

[Clearwater AL]

I'm going to be blunt.

Concerned, your command of medical terminology is stunning.

You have written nearly 7,000 words and countless paragraphs.

You have described countless tests and results.

But... you have been evasive when it concerns your EMG.

Please don't post again unless it is the summary/conclusion of
your EMG. (Last page, generally last paragraph.)

 

[concern3d]

Thanks, Clearwater -- I appreciate the compliment. As you requested, I've attached the EMG (including summary/conclusion) to this post. As I mentioned above, the EMG and NCS were in the list of normal tests, but I've included them here for your reference, so you can see the details.

The reason I'm hopeful that visitors to this forum may have ideas is because I've seen people come here with symptoms that are so very similar to my own. For example, this person's progression of symptoms seems ALMOST IDENTICAL to mine (beginning with tinnitus, as mine did, then including buzzing in hands/feet, then stiffness in the calves with twitching, etc.). While we might not have ALS, here we are with similar symptoms and no answers. I believe these circumstances allow us visitors here the opportunity to help each other as we find ourselves in this place, searching for answers. Of course, I have to rely on the goodwill of moderators approving visitor posts with ideas to my thread, please. But, this forum has the eyeballs of people with symptoms similar to my own, some of which may hopefully have some answers or ideas to share.

I'm not expecting free handouts or expecting those here to replace a doctor, but I do believe there will be visitors to the forum who have had a similar experience and can help and want to help offer ideas based on their own experiences. Similarly, I donated to the forum and am a "supporter," which is all I know to do to contribute and give back in service of others, other than sharing with others my experiences, in kind.

I'm just trying to find any answers and help I can find for myself and those with similar symptoms, that's all. I'm willing to do more to help others if you can share specific suggestions about how I can give back to others here. Thanks for your kindness and understanding in this difficult time.

 

[Nikki J]

Your EMg says no ALS. Your doctor said no ALS. ALS/ MND is what we do here. It is a full time job.

If you get a diagnosis you are welcome to come here and report what it is. That is helpful for all.

You are welcome to post profile messages to other DIHALS as long as they do not violate TOS or contain personal contact information

There are several facebook groups for the undiagnosed where you can share symptoms and test results if you choose to do so.

You can help us / give back by accepting your doctor’s assurance of no ALS and utilizing other means of communication with your desired audience of other undiagnosed people.

 

[concern3d]

I wanted to post a quick update since my last post, for those following my story.

First, I've been taking Buspirone regularly and occasionally Xanax for anxiety. These medications have helped me not worry as much, and I would recommend Buspirone in particular to others who worry a lot (I have heard Xanax is addictive, so I use that only very sparingly).

I still have daily cramps primarily in my calves, hands, and wrists, and sometimes hamstrings (not as often). I still have fasciculations all over my body. The cramps and fasciculations vary in intensity throughout the day. I have not noticed a lot of cramping in bed at night; hardly any. I have also had nausea that comes and goes, and I've been vomiting a few times per week, which is highly unusual for me (not since college have I vomited before now). The tinnitus that started in January is still there, and very rarely it almost all clears up for minutes to 2-3 hours, only to come back again soon. The tremor/quiver I used to have after using my muscles a lot is still there but noticeably better -- for example, I can do more yard work than I was able to do a month or two ago without getting as much tremor/quiver afterwards. So, some improvement there. I do still have subjective muscle weakness at times, and my muscles still seem to tire more than usual. I went for a 1 mile light jog the other day thinking that maybe I could start exercising, and the next couple of days I felt horrible with all sorts of cramps in my legs and more symptoms. I also had my very first migraine aura about 3 weeks ago, which seems very strange for someone who never before January even got any headaches.

I have also recently been diagnosed with epididymis (including testicle pain sometimes spreading to the groin), for which I've started 21 days of doxycycline antibiotic. They did cultures, did urine tests, and they didn't find any infections; but, they put me on doxycycline nonetheless. Since I started doxycycline, the persistent night sweats I was having seem to have abated. I don't know if it's related or not; just an observation.

I found a video here on YouTube from someone with very similar symptoms, although my tremor looks different than his (his fingers move sideways, whereas mine is just a quiver/tremor like the muscles are giving out -- hard to explain, I'll take a video and post is sometime). I'm pursuing other avenues for finding answers, also. I start a functional medicine program in July, which is where I think they send people they don't have any other answers for. I took the Horowitz Lyme-MSIDS Questionnaire and scored a 68, which seems to be a high score. I searched out an International Lyme and Associated Diseases Society listed Lyme doctor who is also an endocrinologist and have an appointment later in June (although I've had two Lyme tests come back negative, I hear that the tests are about as accurate as a coin flip). I'm hopeful for a recovery.

I follow-up again with the neuromuscular specialist in August and a general neurologist in November. I'll continue to keep this thread updated from time to time (likely every 2 or 3 months so I don't post too often and end up bothering anyone) for those following it. Best wishes to all.

 

[Nikki J]

We don’t need to see video thanks. I am unclear why you posted video here of someone whovapparently doesn’t have ALS either

If you are being evaluated for a functional neurologic disorder that is a real thing , although a software problem- not a hardware one like ALS. With proper treatment you can be cured. Google Dr David Lopez Mass General and watch the videos

Be extremely extremely cautious of any Lyme doctor. There are a numbercwho do “ special “ tests and everyone is Lyme positive

If you wish to update kindly do it on your profile page until you get a diagnosis then you may post it. You were cleared of ALS so continuing this thread is not appropriate

Good luck