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bone33

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Learn about ALS
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Klosterlechfeld
Hi everybody,

It took me a several months till I decided to post and apologies that it got right away quite a long one...

Just to briefly introduce myself I am now 30 and w/o any family history of neurological issues. “Past” presentation of: fit, sporty with a stressful and demanding job (so as per today’s post on alsnewstoday more subject to ALS?!)…

Having read stickies, having seen x doctors over past 12mths, having received dozen dx from psychosomatic to BFS, Lyme to unfortunately a DD of MND too… I am still not smarter... unfortunately my muscle issues have been progressively getting worse since symptoms onset.

Dont get me wrong, I know you are no doctors and if those have been in the dark still, how could you come up w sthg – that’s not my expectation! But i am sure you might have at least an opinion/idea based on your mnd knowledge and maybe own trips thru doc’s offices.

I try to focus on the key elements but still it is a lot (all additional things I had checked/experienced can be posted upon request or via PM):

Summer 2015: crazy back pain that shot into my left leg, moreover I noticed that my recovery times after soccer got longer and longer (up to a week);

Dec 2015: First dx: Disc issue w radiculopathy (L5S1). A first EMG (left calf & sheen) was abnormal attributed to the disc issue. Got an injection into vertebra and pain was gone (but real issues started)!

Dec 2015: Just some days after injection my calves felt like strained and overnight I developed crazy twitching and had issues on my right hamstring. When walking it felt like a paresis there and I got calf cramps.

Jan 2016: Saw Neuro again and got brain MRI (no issues) – he waved me home and said I was just anxious. Started psychotherapy and physiotherapy to strengthen abdomen (but instead those muscles got worse every PT session). Also my fingers got stiffer and started cramping when typing and tremoring. Moreover I noticed my breathing got worse (cant breath thru fully anymore).

Feb 2016: Exam at bigger university clinic to have proper check done. Clinical exam absolutely fine – twitching had spread to other parts though. Profound EMG revealed denervation but only decently. Since no clinical issues/no atrophy/no Babinski/no hyperreflexes he sent me home with Dx depression but should come back in 6mths to re-do EMG

Apr 2016: Went to another local neurologist – he said no issues – did a quick EMG again (calfs&thenar) – didnt see any denervation - in contrast to previous.

June 2016: Went for 3 days to MND specialized clinic where I got checked thru – swallowing study, another EMG showed fasics only (but it was not as profound just 2 muscles done again but those properly I thought): Same clean clinical exam – no issues – CSF checked – no issues – bloodwork no issues (CKP ok etc). Dx: BFS and Asthma (which pulmonologist is not 100% sure but doesn’t have a better idea either – FVC ranging around 100%-FEV 60-70% ranges)

July 2016: Back to University clinic to re-do exam. Prof was happy that I am still optically fine w/o any clinical presentation and re-did the EMG. Afterwards he wasn’t as happy anymore and told me he suspects sALS – EMG had shown a worsened picture – acute & chronic signs, psw etc. but absent UMN signs or atrophy or weakness he can just diagnose a "Suspicion of generalized motoric neuropathy" and a DD MND – BOOM! Prescribed Rilutek and I should see a MND clinic – funny enough that’s where I had been 6weeks earlier.

Sep 2016: Back to MND specialist - Showed EMG results and letter of the colleague. He didnt care and said he’s the MND specialist. No MND w/o clinical signs – still no atrophy (for him), still no weakness or motoric problems still no UMN signs: Dx again BFS - I was happy but problems havent stopped! (thought the psych had stabilized and also the therapist said it was not psychosomatic based on her experience).

Nov 2016: Started ABX treatment some days ago against positive lyme/CPN and other bacteria – additionally EBV – (HIV hasn’t been checked yet)… hoping it will help (as Lyme is at least a dx that more than 1 doc shared so far but really not sure if that’s really the root cause – don’t want to re-start the controversial discussion either here… but it’s worth a shot).

Key problems/symptoms now:
Sitting straight and standing straight a bit longer than 1min really hard for abdominal muscles – it feels like constant exhaustion in the belly.
Breathing feels like diaphragm is blocked (FVC remained ok; FEV low but Plmax got worse) – when I eat something have extreme fullness feeling and sounds and breathing gets harder, had constantly hick-ups after drinking or when speaking longer.
Muscles shaking crazily when doing exercise against weights; much less power than I used to have (but obviously all still works it’s just getting worse and harder),
Muscles everywhere getting thinner and i can see lines/dents that were not there before. Same at hypothenar and thumb palm…
Cheeks quivering when lifting nose or brushing teeth even…

Obviously you could argue I monitor myself too much – fully agree (unfortunately there’s a sader story behind going back to my teen’s)... but I see what I see and I feel stgh is really wrong.

Long story short: Issues with breathing – bad EMG (that was kind of neglected from MND specialist though), but twitching, atrophy (or whatever tissue is wasting in my body); But still ‘good’ clinical exam for 11mths after first twitch etc... all parts of the body somehow affected – not a focal/asymmetric start ... so I just can’t put the pieces together as nothing seems to fit classically…

If there wasn’t this crazy EMG that still sits in the back of my mind plus those abdomen issues that get worse every day I would fully buy in on the BFS...

Any clues on pure LMN onset ALS, or Abdomen/Breathing onset ALS or does it point to PMA? Would that fit?

Thanks!
Matt
 
Very widespread throughout your body. ALS tends to focus and then spread out. Others will give you a more complete opinion, but I am thinking perhaps some other problem, not classic fatal ALS.
 
It is not usual for ALS to present with LMN signs only. So that's not a reason to delay dx. Can you post the EMG report?

I find it very strange that one says BFS and one MND. What manner of clinics are these -- where? Perhaps some Germans will chime in. But there are good centers in Belgium and Switzerland, for instance, if you truly need a 3rd opinion. At the very least, the doc who diagnosed you could send your tracings and other results via e-mail for a consult.
 
Well indeed it is a bit odd...
the presentation of whatever it is remains probably not 'textbook classic' so that a slight hope remains...

Both clinics were rather reputable ones imo:
1) the MND suspecting one: a neurological policlinic as part of a huge University clinic

2) the BFS diagnosing Prof: director of a pure neurological university clinic with a dedicated MND ambulance (and supposedly under the top ones in GER for MND)

EMG basics of 1) just showing the worst elements here:
Biceps: fib2+; psw:2+; had 0 in Feb;
Trapecius: fib1+;fas1+;ppp1+;
Inteross. dorsalis: psw1+;amp+1;ppp1

In all muscles except rectus abdominis they found either sign of acute or chronic denervation
Muscle sono showed polytope fasics solely in soleus.
Conduction studies and motor recruitment all okay.

I am seeking a 3rd opinion in a specialist muscle institute but waiting times 4-6 months ...

Maybe in the interim checking for gene defects for pure lmnd with local neuro?!
 
To chase some rare and/or hereditary LMN syndrome is going to be past your local neuro, Matt.

But less invasive would be to force the 2 docs who seem to primarily disagree re the interp of your EMG to speak with one another and explain clearly to you what they think you have, and/or refer you for a third opinion or themselves pass your tracings up to another expert.

If recruitment is unaffected, that's a good sign, for sure. It also doesn't appear that there's evidence of both acute/chronic denervation in the same muscle and I'm not hearing much clinical correlation either, so certainly much more room for hope that you have a spinal process, possibly exacerbated by the injection, than ALS.
 
Thanks for your comment and words of hope.
I understand and my local neuro as well that he cannot do any gene analytics but he said he could trigger that with some specialized clinics.
Getting the docs talk about the emg results would not work as the 'BFS guy' clearly didnt care about the EMG but kinda dismissed it as not relevant.
He said " no MND wo clinic as per his 40 yrs experience in MND and an EMG is just a test that could help and he would not diagnose me w MND - not now not 3 mths ago."
So it is probably all about getting opinion nr3 w neuro-muscular specialists which would be in some months timeframe.
Keep you posted after my visit w local neuro tmrw to see what he said.
 
just an update from yesterday's neuro visit... it was the first after having seen the MND specialist who said BFS in Sept while having received the worse diagnose before in July.

He noted the heavily remaining discrepancy between those two positions after reading thru the MND specialists position of keeping "BFS diagnose". The only chance to get that clarified fully is to go for the 3rd opinion with the neuro-muscular center and he'll send a referral letter asap.
He rechecked the clinical basics (reflexes, clinicial weakness, visible fasics) - not surprisingly (and fortunately) nothing striking. So in his opinino there hasnt been any clinically relevant progression over the past 9 months - but he acknowledges that also there has not been any improvements and that I do experience issues ongoingly.

Kinda out of curiousity he also re-did NCV testing as well as an EMG again of 4 muscles (2 distal / 2 proxixmal - mainly those that appeared badly in the EMG report from July)... and surprise, surprise: he didnt find anything at all (no PSW, no fibril, no too high potentials)...

He said he remained wondering why there was this abnormal EMG and despite of not having seen anything now I should see the NM specialists.... 'cause they would also find out if it was something really rare.
His position though is similar to the MND specialist one - he doesnt believe in me having ALS... but also he doesnt know what's causing the issues I experience...

Of course I am really happy that his EMG was normal but the doubts about the situation somehow remain - especially as he said it's so much about the interpretation of EMGs...
Anyways it is getting quite clear that in my case several positions will turn out to be heavily wrong - either the bad one... or the benign ones...
Obviously nobody wants to give a MND diagnose but delaying or withholding it or actually not suspecting it on purpose is surely not what I would assume principally.

As the appointment there is still a couple of weeks (if not months) down the road I will try to neglect any upcoming symptoms as far as doable and just pray that nothing will advance into the clinically "no more functioning or obvious atrophy state"...

Any additional thoughts from your end are welcome!
 
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