Status
Not open for further replies.

krl111

New member
Joined
Feb 18, 2016
Messages
8
Reason
Learn about ALS
Country
UK
State
Greater Manchester
City
Manchester
Hello everyone.

Firstly I would like to thank you for this forum which gives hope to those who are new to or awaiting anxiously for a diagnosis. Secondly I want to say how I respect all contributors who highlight the strength and positivity that people can show even in the most difficult of circumstances.

I would like to share my journey so far and ask a few questions.

I am a 37 year old male health professional who started off with widespread fasciculations just under 6 months ago (August 2015). It all started by a sudden pronounced twitch in my left arm one afternoon and within 24 hours I was randomly twitching all over my body including calves, thighs, back, buttocks, arms and neck. I had single brief superficial twitches, more pronounced deeper ones in bigger muscles and “repetitive fire” ones in several muscles. I also developed buzzing in my feet and legs and a feeling of worms under the skin in my calves. At the time I was training for a half-marathon and had lost considerable muscle mass especially in my arms. There was no weakness or wasting however and I was still managing long runs of more than 12k on the weekends. After two weeks of symptoms I started to become anxious and a search on Google along with my perceived upper limb muscle loss pointed without doubt to ***.

Due to my contacts at work I managed to see an *** specialist (Dr E) in my third week of symptoms. My clinical exam was completely normal and an EMG done the next day (3 muscles in each lower limb and 3 in right upper limb) hardly showed any fasciculations and definitely no features of ***. I was reassured and told to get back in touch if any problems. I was over the moon that day and celebrated with my family and friends. Over the next few days however I realised that this would only be the beginning of a living nightmare. A colleague told me that the EMG can be normal in early *** and my symptoms were still pretty florid with twitches, bumps and thumps everywhere including my abdomen. I also started clearing my throat most of the time even though I didn’t link this with anything at that stage. My anxiety started deteriorating and I lost even more weight. I had insomnia with bouts of uncontrolled crying and retching. I was sure my muscle mass was decreasing, I was yawning all the time and there were specific episodes after walking or going up stairs where I suddenly felt very weak legs and could barely walk. I was waking up suddenly with completely numb hands which I could not move for a few minutes and that caused me to panic. I was also getting very specific things like eyelid crustiness and thick saliva which I then looked up and found links to ***. I attributed all the above to *** not realising that my mental state had spiralled out of control at this stage and I was becoming even more depressed and anxious by the day.

I got in touch with Dr E about two weeks after my first review and he examined me once again that week. Once again clinically I was fine and he said that I very likely had peripheral nerve hyperexcitability (PNH), even though the EMG was essentially normal. I had a CT scan of my chest, MRI brain and bloods for electrolytes, thyroid function and voltage gated channel antibodies, all of which turned out to be normal. He said he would see me again in two months.

My GP initially prescribed Diazepam to help my sleep and anxiety and then added citalopram. The diazepam definitely helped me sleep and controlled some of my symptoms. By this point I had gone off sick at work, a high powered job in a big teaching hospital that I had only started 4 weeks previously. My twitches started getting worse, particularly in the calves where a frenzy of activity would start even after a short walk or after driving. I started to run less and less, not because I couldn’t but because of my depression and also weight loss. I tried increasing my food intake to gain weight but initially couldn’t. I was 76kg and over 6 feet tall.

I also started to note some very fine jerking of my wrist and fingers which occurred when I was resting in bed at first. This was quite subtle at this stage. I managed to exist (rather than live) for the 6 long weeks to see Dr E again. At this stage I was still clearing my throat all the time but did not link it to *** and when asked about swallowing and speech I confidently said I was having no problems. I had a very thorough clinical exam, especially of my lower limbs, and I was told that apart from brisk reflexes, which Dr E attributed to anxiety, I was fine and I did not have ***. No fasics were actually seen on the day either even though I was counting one every 30 seconds at home. At this point I had also mentioned isolated episodes where for example a wrist tendon started twitching and my pinky finger was being pulled towards the palm of my hand. This lasted about an hour and I never felt it again. I also mentioned the potential jerks or spasms but I was told that my exam was normal so I shouldn’t give them any significance at that stage.

An EMG was booked for two weeks later. This was just short of 3 months from my previous one and showed only the odd fasciculation (the same muscles plus a needle in my left hand this time). The consultant neurophysiologist (who had also performed my first EMG) told me that this was highly unlikely to be ***. I returned home that day, only partially reassured by this news. I had a chat with my GP and we decided that I should try returning back to work. He stopped my diazepam so as to not interfere with my work and we planned a return date for the following week. What followed however was a marked increase in my jerks/spasms off diazepam to a degree that I could not sleep at night. These occurred in the big muscles of my arms and legs, sometimes resulting in a whole limb or joint moving. Even my chest or abdomen would get them sometimes. By now I was totally consumed and worried about ***. I emailed Dr E who suggested I should get a second opinion as up to then he had examined me several times and could find nothing wrong. He recommended a local neuromuscular expert (Dr R) and I managed to see him within a week. After hearing my long history, this time also including my throat clearing and possibly some bite marks on my tongue, he did an extremely thorough exam especially of my limbs and told me that he was absolutely sure that I did not have ***. He only briefly looked at my tongue and simply said there were no fasciculations. For my piece of mind he said he’d see me again in three months and repeat the EMG if I thought it was necessary.

I went home that day and could not sleep at all at night. I kept twisting and turning all that had been said in my head. It suddenly dawned on me that I had bulbar ***, hence the normal EMGs! It all made sense, the throat clearing, tongue bite marks, irritated sides of the tongue. I started feeling that I was slurring some words. I felt it was very subtle, hence not noticed by my partner or best friend, both of whom are doctors and were convinced that my main problem was psychiatric. Although acknowledging the latter I was 100% convinced I had bulbar ***. I started testing my swallowing by downing pints of water and choked one night, aspirating water and nearly killing myself. My tongue felt thin, I felt I couldn’t chew properly and I noted some possible fasiculations especially in an area where two ridges had started developing on the right side of the top of my tongue. I completely broke down just after Christmas and I got admitted to a psychiatric unit just before New Year’s eve. I’ve been an inpatient since.

On the ward my medication was changed to Sertraline, Mirtazepine and Quetiapine with Diazepam if needed in between. I calmed down a little although I still believed that I had ***. An urgent appointment with Dr R was organised by my psychiatrist for less than two weeks later. I don’t know whether I was prepared or not for that appointment. I saw Dr R on the 11th of January. He noted that my speech hadn’t changed since seeing me a month earlier. He also looked at my tongue and said it looked normal. He then sent me to a room next door where a fellow consultant neurophysiologist examined my reflexes before performing an EMG. I noted that my reflexes were brisk and I mentioned it to him. He said his own reflexes were just as brisk and he wasn’t worried, especially since they were also symmetrical. This third EMG was therefore being performed at 4 months from the first. He performed the EMG slightly differently with less active muscle contraction than the previous ones. He put needles in all four limbs and then did my neck muscles (including sternocleidomastoid) and my tongue (4 needles through the chin/upper neck). The report said there were a few scanty fasiculations in the limbs but no definite evidence of ***. The tongue EMG was normal. The neurophysiologist told me that I definitely had PNH and there were no signs of ***. He also said that he had never seen such cases develop into *** during his career although *** is a type of PNH and therefore he couldn’t exclude it fully 100%. He told me he would go and speak to Dr R whilst I changed back into my clothes. For those brief moments after he left the room I felt for once a degree of reassurance. Unfortunately it didn’t last very long…

Dr R came into the room and sat down next to me. He said the good news was that I certainly had fasciculations so I wasn’t imagining them! He then said that in view if my continuous concerns and self-vigilance, my EMG findings, and also being a medical colleague, he would keep me under review at 3 monthly intervals for the next year rather than discharge me. This was a change in tone compared to the previous month where he was ‘absolutely certain’ that I did not have ***. When pushed to give me an estimate he said he was 90-95% confident that my fasics were benign. I left the clinic with very mixed feelings and went back to the psychiatric ward.

For the past 5 weeks I have been on the ward trying to get my mental strength back. I have tried to be more positive and to appreciate and live for the present. There have been ups and downs. There were a few nights where I woke up suddenly feeling that I couldn’t breath in my sleep and attributed this to ‘air hunger’. There were nights where I got restless legs (a known side-effect of Mirtazepine). My fasics have calmed down quite a lot but apart from their eternal presence in my calves, particularly on the left. I thought the latter was getting slightly smaller compared to the right two weeks ago but calf exercises in my room and at the gym have pumped it up again! (the fasics do get worse straight after exercise though). My throat clearing has mainly disappeared (quetiapine causes dry mouth so it could be a beneficial side-effect of my meds rather than spontaneous improvement). I have put on 17kg and now weigh 93kg! This is partly due to the increased appetite from Mirtazepine but also much less running than I used to. I’m still managing to run 5k in 27 minutes (despite the extra weight) and I have been doing weights at the gym to build muscle. I know that I cannot defeat this disease if I do have it but exercise does help me feel better overall.

My improved mental state now means that I have some hope at the moment, an essential human quality which I was missing up to only a few weeks ago. However, my objective self still feels that it is highly likely that I have ***. My left calf fasciculations are frequent and have become slightly longer and deeper in quality. I am still getting spasms or jerks in legs, arms and fingers particularly when resting in bed, mostly after waking up in the morning. Most make a muscle contract for less than a second, some make a whole joint or limb move (myoclonic jerk), most make a finger move very suddenly and briefly, the ruffling sound on the pillow making me aware of it. I am not sure whether these are jerks (common to BFS) or spasms (which I link to ***). The most worrying thing for me is my tongue. I am sure that it is smaller and thinner than it used to be. I can still move it from side to side and in and out of my mouth but I feel that it is less strong especially lifting it upwards and I cannot reach the entire roof of my mouth with the tip. The double ridge on the right side is still there and a subtle ridge on the left has now appeared. Food like nuts and fruit coatings adhere to the top surface of the tongue for longer. I also feel that some words come out slightly slurred and I cannot make certain sounds continuously (eg. BRRR or GRRR). I am also aware that the neurophysiologist mentioned in passing that my tongue amplitude was on the lower side of the normal range, even though he said not to worry about it at all. I am nearly sure that I have bulbar ***.

I apologise for the extremely long thread and hope you have managed to read through it all. I just feel that details are important in this story. I do have a few questions if that is ok and would also like to share with you some tongue photos if you could help me upload them...


1) How likely is it that if I had bulbar *** the tongue EMG 5 weeks ago would not have picked it up? (bearing in mind I felt I was already symptomatic).
2) With fasics going on continuously in my left calf for 6 months, shouldn’t the EMG show fibrillations, sharp waves etc. by now or can it still be normal (with fasics) in ***.
3) In view of the symtoms and changes in my tongue and spasms/jerks would you suggest I move closer my next neuro appointment which is not due before another 2 months? (I know that the earlier you start riluzole the more marked the effect)
4) I would like to share with you some tongue photos if you could guide me on how to upload them?

Thanking you in advance for your answers,

Best wishes

K
 
I'm am so sorry you are experiencing such debilitating mental illness, it must be awful for you to suffer this way.

To answer your questions:

1. It would definitely have been picked up on EMG
2. Benign twitching will return a normal EMG, which is what seems to be the case.
3. No, you are being seen very often by specialists who have set your schedule closer already than usual.
4. We don't need to see tongue photos.

My husband was bulbar onset ALS, you don't describe it at all.

All the best solving your serious issues and returning to complete mental health.
 
K,

As you are aware, PNH is an umbrella dx. It does seem to apply in your case, but as you are also aware, better characterization of which syndrome is actually involved would improve the specificity of tx. I am unclear as to whether your testing actually revealed myokymic and neuromyotonic discharges, and why if so you're not on a low-dose anticonvulsant; indeed, as you know, psychotropics like quetiapine and even SSRIs can exacerbate your symptoms.

But from my limited perspective, the hesitation in saying "100% benign" relates more to natural reticence to label anything 100% and to the association of some PNH variants with malignancy, K channel origin, and dysimmune conditions (why I would be less than comfortable with a simple "PNH label") than the suspicion of MND.

The widespread onset you describe, coupled with the duration/course of sx and the paucity of EMG/NCS findings, simply does not fit either bulbar or limb-onset MND as I understand them.

So as your psych treatment stabilizes your mental health, I would focus on a sharper differential (perhaps there is a specialty unit in your region), treat it if/as indicated and live your [likely long] life.

Best,
Laurie
 
Dear Tillie and Laurie,

Thank you both for your prompt replies.

I will refrain from sending you tongue pictures. Regarding the PNH diagnosis, I believe that it is based on the finding of fasics in more than one muscle group. To my knowledge there were no findings consistent with neuro-myotonia (such as triplet potentials) and the diagnosis of PNH is purely clinical. The letter from my neuro only stated that 'NCV was normal with no evidence of a generalised neuropathy nor reduction in C map amplitudes; EMG of the limbs did show a few scanty fasciculations but there was no change in motor unit morphology. EMG analysis of the tongue was normal.' At a point between first and second EMG I was indeed prescribed Lamotrigine on an increasing dose but I stopped it after a few weeks (when I had reached half the maximum dose) partially because it didn't make a difference but also because it gave me skin rashes.

From a fasciculation point of view I feel that things are overall better, perhaps because I am used to the occasional (daily) bout in an arm or chest, most often after exercise. My concern when it comes to fasics is the continuous calf ones, particularly on the left and I worry that this fits in more with *** as it is localised and more prominent on one side. Interestingly I actually 'feel' the fasics less which once again fits in more with *** but might be that I'm used to them or because I've got more fat in my skin from the weight gain.

My main concerns remain twofold: firstly my tongue which I definitely feel is smaller and thinner with a fine ridge on each side, more prominent on the right. I feel I need to control my speech so as not to slur. I know this is a subjective evaluation - my partner doesn't think my tongue or voice has changed but I believe I can pick up subtle differences as I live with my tongue 24/7. A little more disconcerting are the leg, arm and sometimes torso spasms/jerks. They are present every single morning when I wake up and really put me down. Once I'm up and about I hardly notice them, although I do feel the occasional one throughout the day (for example my hand may suddenly move abruptly whilst typing a text on my phone or whilst holding a book or newspaper. I definitely had these spasms/jerks before my last review but wonder whether the diazepam was partially hiding them both to myself and my neurologist.

I wonder what you think of these spasms and whether I should be worried about them. And I really hope you are right about the tongue EMG. I really value your opinions as you must have experienced a barrage of different symptoms by your loved ones.

I am being discharged from hospital today and will face the prospect of returning to work over the next month. I wonder whether this has augmented my fears and prompted me to post my thread on this forum. Whatever the reason I will better for expressing my thoughts in words, knowing that people who have already experienced these fears and worries are listening and sharing their own experiences.

Best wishes,

K
 
I would really try not to worry about those spasms/ jerks. They do not sound typical for MND and you have had amazingly thorough testing probably mostly because of your profession, perhaps also because of your fragile psychiatric state

Please consider that your professional judgement is skewed. First, it is difficult for any one to evaluate themselves objectively , more so through the lens of anxiety. Considering posting tongue pictures on the internet is an example. You were going to have strangers on the internet offer an opinion based on a photo when your physician partner has examed your tongue in person and you were also seen by the consultant about a month ago. Surely you can see this is anxious behavior?

I hope you will share with your psychiatric providers all of what you are feeling/ thinking including your need to post here.

Best of luck as you return to your community and to your work
 
Thanks Nikki

I agree with your point on self assessment. It is a nightmare to control he anxiety, despite the medications.

My concern is that the tongue EMG was done too soon and that it failed to pick up
early signs of bulbar pathology. I read on another thread that paraspinal EMG is the best to pick up bulbar - I only had neck muscles and tongue which another thread said was less accurate in finding changes.

I look at my tongue and I definitely see it thinner and it tends to sit further back in my mouth. I'm not sure whether I have the odd small fasic as well. Could my tongue EMG 5 weeks ago have missed this? (I thought the fasic was present then)

K
 
I do not know the thread to which you refer. What you say is not what I was told. My information comes from the doctors who do my EMG for two genetic ALS studies in which I participate. They are considered leading EMG doctors in the United States and are well known in the UK as well. The paraspinals are considered to increase the sensitivity of the limb EMG. For bulbar the sternocleidomastoid and under the chin are considered the test sites of choice one prefers the first, the other the second. You had both

You of course can believe whatever you wish I can only quote what doctors I consider very expert have said to me
 
Dear Nikki

That is very reassuring, thank you.

I cannot recall where I read those threads but they certainly weren't from experienced neurologists or any other medical background as far as I'm aware.

Do you think that in the context of my history and the time frames given it would be very unlikely for the EMG not to pick anything up?

K
 
For what it is worth I do- but my opinion should not matter- those of your 2 consultants matter the most, followed by your partner and best friend since they are doctors. When you are well and seeing patients I am sure you encounter situations where they say they were told x y or z medical opinion by their brother the plumber or by some random person on the Internet. I am sure you advise them not to heed these opinions and to listen to you and your colleagues
 
Thanks for including so many details, KRL. That helps. I don't see any ALS in there. From the impressions I've received from others and professionals, I think your EMG would have picked it up if there were any ALS to see.
 
Dear Nikki and Mike

Thank you both for your replies.

I was discharged from the ward yesterday and it's nice to be out and about after 7 weeks. I am going to try and live by the day and appreciate the world and people around me more. That includes the people on this forum like yourselves who give such valuable support from first hand experience. I hope you don't mind me keeping you updated and asking the odd question as time goes by.

Best wishes

K
 
The best thing you can do now is read the sticky again.

It says clearly that once you have been answered that you are not presenting with ALS symptoms you need to move on. Now I say this in your best interests. If you keep coming here, you are only feeding your mental health condition. The very best thing you can do for yourself is never come here again.

I sincerely wish you a full recovery and congratulations on being released home again.
 
Dear Tillie and all,

Thank you so much for your responses. They will certainly help with my attempts to move on.

Best wishes,

K
 
Dear all,

I have a quick question for you.

My symptoms have not got worse since my last post, if anything I have learned to ignore them. I still have permanent fasics in my left calf although frequency waxes and wanes. I also get random fasics in other muscle groups but these are not permanent in location. I have no obvious muscle atrophy or weakness - I am purposely doing quite intense gym work outs to maintain muscle bulk. I have actually put on 20kg (!) since my deal started over 6 months ago. I cannot run long distances as easily as before (I attributed this mainly to my increased weight) but still can run 3-5k easily at a slower pace. My voice hasn't changed and although I feel I slur some words on a daily basis I'm no longer obsession with having obvious tongue atrophy. I'm having no particular problems with swallowing either. I am still getting daily random muscle contractions/jerks as described previously.

My main concern and question is regarding snoring. For the last 1-2 weeks I have noticed that I am making snoring sounds when sleeping at night. They are bad enough to wake me and my partner up. I'm not experiencing morning headaches but the last couple of nights it has significantly affected our sleep. Should I be worried about this? Do I need to contact my neurologist to get reviewed/tested earlier? I am quite worried about this which is a shame as I was making good progress mentally and finally felt that I could start to move on since my discharge from hospital 2 weeks ago.

Best wishes

K
 
My thought would be it is related to your increased weight. Do not let yourself lose all your good progress.
 
Status
Not open for further replies.
Back
Top