Time for diagnosis - slowly progressing ALS or PLS

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mThompson

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Hi,

Just wondering if anyone has any knowledge in this area or has unfortunately experienced it? My mum developed symptoms nearly two years ago, starting with slightly slurred speech and then ankle weakness and foot drop. Both have progressed slowly, although she is still able to talk and walk (albeit slowly and carefully). Other symptoms also developed, such as emotional issues, muscle twitching etc. She has been seeing a Neurologist for the past 15 months who has done all the tests (MRI, EMG, Lumbar puncture etc).
All have come back clear, we were frankly expecting the EMG to show that it was ALS. The Neurologist says that it could be slow developing ALS, but the symptoms seem well developed for that or PLS. There doesn't seem to be anything to do but wait and see how the symptoms progress and have follow up EMGs.
 

Nikki J

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Past thread Slurred speech and foot drop

you hear a lot about diagnostic delay but that is mostly attributed to the delay in actually seeing a neurologist. Most people wait a bit after their first symptom, then see their gp who might order a test or two or PT then the next step is often orthopedics or rheumatology. With waits in between it is often close to a year before neurology. It is comparatively rare by the time you get to the emg phase that way not to have a preliminary answer. Occasionally the emg is not normal but worrisome and there will be repeats scheduled. PLS is diagnosed tentatively mostly by clinical exam. These people are followed to make sure that there is no lower motor involvement but they are not really undiagnosed. I had a relative who had slow progression and did not see a neurologist for several years but when she did she was diagnosed as soon as they completed all the tests

if the neuro has told her to follow up then you are right there isn’t much to do but wait. Some neurologic diagnoses just take time unfortunately. Of course your mother could seek a second opinion but it sounds like she has had a proper workup
 

mThompson

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Thanks for replying. My mum's EMG was actually described as completely normal but the symptoms are definitely getting worse. I have read that some ALS cases do develop slowly over ~4 years and that the EMG can be negative throughout that time. My mums symptoms are fairly advanced after 2 years so would expect the EMG to show some abnormalities.
Not a nice thing to hope for but, hopefully she has PLS, which will stay as PLS.
 

Nikki J

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The vast majority ( probably all) of those accurately reporting diagnosis after normal emgs are those with upper motor neuron onset that had PLS as the main differential. If your mother has the umn signs then the longer she goes without lmn findings the better she chances for pls
 

mThompson

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Thanks, she definitely has UMN signs that the neurologist has confirmed. We got the impression that he was very surprised when the EMG came back normal. It has been 2 years so far so hoping that it will continue without LMN involvement although I appreciate it seems that it takes ~4 years before they will tentatively confirm PLS. It may of course just be ALS with a slow UMN start, but hopefully even that might progress more slowly than other types of onset.

Thanks very much for responding by the way, much appreciated
 

lgelb

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Yes, upper motor neuron dominant ALS, if that's what she has, would be expected to progress more slowly.

If she has emotional lability, you might want to ask about Nuedexta as a treatment. And please try to ensure she uses whatever mobility device(s) she needs to prevent falls, which are often devastating in any case.

Best,
Laurie
 
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