Atypical Parkinson's like ALS

Neutrino

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Hey Everyone.

As ever, appreciate any kind of entity opening its doors to offer advice to essentially strangers. SO, thanks for reading this. Ill keep it brief, and hopefully its not the typical anxiety protocol.

For reference im 38 and male. Working backwards. I currently have a diagnosis of probable Parkinsons, with possible Multiple System Atrophy (im sure your aware MSA cant be 100% diagnosed until post mortem). Of course, something like MSA hanging over me has been something to get used to. However, have some niggling feelings that things don't quite add up. Although pretty much anything else could be better than MSA.

The reason for the possible MSA is the Parkinsons diagnosis is given as atypical, as i presented with non typical symptoms. With a number lining up with MSA. Its very early stages, i only started noticing something wasn't right at Christmas, was under the care of a movement specialist neurologist from March, and had the probable diagnosis about 6 weeks ago. In that time have had spinal and brain MRI's plus DATScan. The datscan was borderline for initial loss of receptors. So at the moment the diagnosis is on clinical symptoms, and im to be reviewed again with another DATscan in January to see how fast its progressing (which will give a better indication if standard Parkinsons or MSA).

Anyway, im sure your realising there is a BUT coming. So since my last Neurologist appointment i now have fasciculations + cramps in my lower legs (i already had clinical weakness in arms and legs, but currently attributed to Parkinson's). You do get cramps (Dystonia) with Parkinson's, but you don't get fasciculations. I also saw my GP this week for something less troublesome, but she noted atrophy of my hands and feet. I didn't bring up ALS, and she herself just assumed again to do with Parkinson's. But again, Atrophy is not common in Parkinson's until very late stage when immobile.

Just to add, the atypical symptoms i presented with where heart rate control, inappropriate sinus tachycardia and premature ventricular contractions. I can get up to 15 premature beats in a row, and my resting heart rate varies a lot, upto 130bpm. Plus weak, tight chest muscles. Now, those are all definitely possibilities in MSA, but im aware they can be for ALS as well.

So i have to wrap this up into a question don't i! Essentially i have the clinical lead for Parkinson's as my Neuro, a very good movement specialist. Quite confident its atypical Parkinson's. But symptoms have progressed since last consultation. So i am contemplating booking another appointment before the next January set of scans. But, should i get an opinion from a musculoskeletal neurologist, that may have better insight to what's going on. Or stick with current one and bring up ALS/concerns around current diagnosis, and ask for EMG etc (i suspect there is also the option of type 4 spinal muscular atrophy, especially as tremors are common in that).

In summary the things that led me here, over the current diagnosis:

  • Rigidity/clinical weakness first appearing around 6 months ago in hands
  • Moved to upper arms around 4 months ago
  • Feet about 2 months ago
  • In the past 6 weeks fasciculations and cramps in lower legs
  • Most recent, atrophy noted in the hands
  • Everything is worse when its colder
  • Now starting to not be able to do things i used to, silly things like i cant wear jeans with buttons anymore as cant do them up
  • I have lost about 2 stone in the past year, but 0.5st of that is in the last 6 weeks, and i have been increasing my calorie intake to try and gain weight, with no luck
  • No anxiety - weird i know, but i have a stress laden job, and am very good at taking things as they come
Things that make it not so straightforward/give the Parkinson's/MSA diagnosis:

  • Action/postural, bilateral tremor (but no resting tremor) - mostly on extension or when forcing the muscles
  • Bradykinesia
  • Synkinesis
  • Cogwheel rigidity (apparently pretty much only appears in Parkinson's/MSA) - muscles cause a ratcheting affect when twisting
  • Initial, although borderline abnormality on the dopamine receptors in a DATscan - have seen that there can be extrapyramidal involvement in ALS, and often only a hint of it in Datscans
I don't have any sensory issues, no pain except for the cramps, no funny feelings etc.

So yeah, that's about it, i generally don't like making a fuss, and firmly believe my neurologist knows his stuff. But, thought id get some feedback on the above to either help me make the decision to go back to him with it, or to just go with the flow and see how things go over the next 6 months.

Thanks in advance.
 

Nikki J

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I would go back to the doctor who knows you. If they think there is cause for you to see someone he can facilitate that. We always advise people to check with their doctors about health concerns
 

affected

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I agree with Nikki, way out of our range to say anything about your complex case. Only your doctors can sort through any new symptoms and their implications with you. I hope you get it sorted soon.
 

lgelb

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Sounds like MSA/atypical PD/another hybrid neuromuscular disorder (there are at least hundreds) is much more likely than ALS. Likewise, agree with staying the course on diagnosis. There might be thought of empiric Parkinson's treatment to help narrow down the process.

Best,
Laurie
 
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Neutrino

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Thank you for the replies, also the PMs received (for the life of me i couldn't find a reply button in the pm sections?!). Thought id pop back in to update (sorry i didn't reply originally, but know you all have better things to be getting on with).

There has been a fair few changes, and progress with the various people involved. So initially i spoke with my GP again, and i got a referral to a university run MSA clinic, im currently waiting on that appointment, as they don't take private patients, which is fair enough for a institution like that. This was with the blessing of my main Neurologist.

Over the past 5-6 weeks though, symptoms have continued to evolve. On that basis i had appointments with my GP, and lead neurologist last week. Primarily this is to do with marked increase in atrophy, weakness, cramps and fasciculations. The parkinsonism type symptoms have remained steady. So i am now believed to be in the situation of a hybrid neuromuscular/atypical parkinsonism. Or, one of the conditions (ALS/MSA/Parkinsons), and symptoms of the other being caused by something else.

They have now noted moderate atrophy in the Thenar, abductor and first dorsals, progressing clinical weakness, and the fasciculation's where evident on examination (primarily calves, which are now there more often than not, and starting in the hamstring muscles). So the neurologist has referred me for a EMG/nerve conduction studies at another university hospital, and will liase with a neuromuscular specialist there. My GP has also noted distinct changes in my voice sound and speach quality since she last say me a month ago.

So i will report back once have had the EMG, i should hopefully have details of the appointment tomorrow which should be in the next couple of weeks, he seemed to be quite urgent to get it done.

I will finish today with a question if thats ok. Its just around prognosis. I know bulbar onset is typically the fastest progression. With limb onset being slower. Then sometimes it can be blurred where there isn't much time between the two, so its not clear which would have been first. But i couldn't gauge what the progression rate/prognosis is for that. Is it in the middle, or, faster due to being quite widespread initially.

So far my symptom's started in the right arm, then left, then left leg, then right leg. Then potentially up top to speech etc. Its been only a matter of weeks, or month or two between each limb showing symptoms, and as mentioned, speech seems to have been affected over the past 4-6 weeks.

Thanks again.
 

lgelb

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There is not going to be good data around diffuse ALS onset -- it's not really a subtype that's studied, as such. For research purposes, you would be classified by your self-report of the first signs and/or what the EMG showed. So that sounds like limb onset. Parkinsonian forms may progress differently, especially if there is dementia.

All survival studies are looking far into the rear view anyway, as options/adaptions have changed.

We're none of us promised tomorrow. What we can control is how we respond to whatever comes our way. In the end, a diagnostic label may be less important in terms of dealing, than staying ahead of what pops up.
 

Neutrino

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Thank you for the reply. Makes sense to still class it as limb onset. It followed one of the published patterns for limb onset aswell. Just with not to much time between the spread. But agree, will see what the EMG shows, which is next week.

The EMG will be done at a ALS clinic, one of the main centres in the UK I beleive. The results are then viewed by a panel of 3 neuromuscular specialists (plus input from my movement specialist neuro), in theory with a diagnosis on the day (as I have already had all of the scans, lab work ups, clinical examinations etc) - so my question is, if it is ALS or similar, would the recommendation still stand to get a second opinion?! Or that will be pretty conclusive?

Again, agree - I'm a positive person, aiming to make the most of whatever the situation may be. Never seen the point in worrying about what can't be controlled. But do like to be in charge of what can be done influenced, if that makes sense.

Will report back with the EMG results and hopefully it is squeaky clean!
 

Nikki J

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If your case is reviewed by several expert consultantsI am not sure whether you would need another opinion especially if they also lay eyes on you as one or more of them examine you. good luck
 

Neutrino

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Thanks Nikki.

Had the EMG today. I won't get the full report/specifics until tomorrow. But had a good chat with the consultants about the test in real time. It's still quite complex, and they couldn't reach a diagnosis today.

So it has shown as an abnormal scan, showing mild lower motor neuron damage. Similar to what is sometimes seen in very early mnd. I'm still relatively uneventful on upper motor neuron symptoms though.

So aparently it is likely a waiting game now and to repeat it again in 3 months to see what of the various MNDs it could be.

I'm hopefull, as it was commented that if I first noticed symptoms in January, and the EMG showed what it did today, it would be classed as very slow progression. Also that it's only showing lower motor neuron signs. So maybe PLS or similar.

So, limbo for a bit longer. They said want to be cautious and not dive into a diagnosis yet. They will do genetic testing in the interim.

Thanks all.
 

Nikki J

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Do you know what the genetic testing is for? Kennedy disease perhaps?

if you have no upper motor neuron signs it won’t be pls as that is an umn disease. the opposite would be pma. Hopefully tomorrow you will have more specifics
 

lgelb

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Just to keep the record straight, PLS is when most of the damage is to upper motor neurons, not lower. Most EMGs are not powered to detect upper motor neuron damage, and upper motor neuron signs are not needed outside a research context to diagnose MND. But whatever MND you might have, "mild damage" and slow progression sound good. If you can get a copy of the report and post with identifying details removed, we of course would be happy to comment.

If you are still having inappropriate sinus tach, you might ask about a beta or calcium channel blocker.
 

Neutrino

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Thanks both. Yes, my bad, PMA, not PLS. So many abbreviations!

Kennedy disease was mentioned, along with adult onset SMA. Plus a few others I can't remember the names of. Plus the genetic forms of parkinsons as well, as aparently a couple of those can affect LMN

Will definitly revert back when have more specifics.

And yes, on beta blockers at the moment for the sinus tachycardia, which has it relatively under control. Minus the annoying side effects of course, which are just about tolerable.
 
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