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    • #20431

      I think we’ve all wondered why ALS is so difficult to diagnose and in the end, it’s basically ruling out all other possibilities. As a result of this difficulty comes much confusion about motor neuron diseases and often times misdiagnosis. Some of the health problems often considered and possibly the initial diagnosis include:

      Primary Lateral Sclerosis (PLS)
      Progressive Bulbar Palsy (PBP)
      Pseudobulbar Palsy
      Progressive Muscular Atrophy
      Spinal Muscular Atrophy
      Kennedy’s Disease

      (The motor neuron diseases (MNDs) are a group of progressive neurological disorders that destroy motor neurons, the cells that control skeletal muscle activity such as walking, breathing, speaking, and swallowing. This group includes diseases such as amyotrophic lateral sclerosis, progressive bulbar palsy, primary lateral sclerosis, progressive muscular atrophy, spinal muscular atrophy, Kennedy’s disease, and post-polio syndrome.

      Normally, messages or signals from nerve cells in the brain (upper motor neurons) are transmitted to nerve cells in the brain stem and spinal cord (lower motor neurons) and from them to muscles in the body. Upper motor neurons direct the lower motor neurons to produce muscle movements.

      When the muscles cannot receive signals from the lower motor neurons, they begin to weaken and shrink in size (muscle atrophy or wasting). The muscles may also start to spontaneously twitch. These twitches (fasciculations) can be seen and felt below the surface of the skin.

      When the lower motor neurons cannot receive signals from the upper motor neurons, it can cause muscle stiffness (spasticity) and overactive reflexes. This can make voluntary movements slow and difficult. Over time, individuals with MNDs may lose the ability to walk or control other movements.

      Were you diagnosed with anything other than ALS initially? Have you or anyone in your family been diagnoses with another Motor Neuron Disease?

    • #20449
      Jim Knepp

      I was diagnosed with Primary Lateral Sclerosis (PLS) in February of 2010 by a Neurologist in South Bend, Indiana. My PLS diagnosis was confirmed by the Indiana University School of Medicine, Indianapolis, Indiana, and during 3 visits to the Mayo Clinic, Rochester, Minnesota. My care was transferred to the Northwestern Hospital PLS/ALS Clinic, Chicago, Illinois. On April 22, 2014, my diagnosis was changed to upper motor neuron, slow progressions ALS, and my care was transferred to the ALS Clinic at the Indianapolis, Indiana, VA Hospital. At the present time, I am being treated at the ALS Clinic at the Gainesville, Florida, VA Hospital.

      To the best of my knowledge, I have no family history of motor neuron diseases.

    • #20450
      Mark Shefsiek

      IMO it is so hard to diagnose because modern medicine is nearly 100% dependant on technology.

      Doctors are losing the ability to do physical exams and don’t take the needed time to do histories.

      Research shows they are not great at testing reflexes if they even test them at all.

      In all my exams only one Dr ever tested the jaw jerk reflex, only a few Hoffman.

      Quick “don’t let me pull you” only check a single initial muscle activation, and not relative or sensitive to say 2 months ago.  3/5 bicep is observable without testing and 8/10 when you don’t know what 10 was is impossible.

      Also language.  Numb means you can’t feel a pin prick or vibration. However ALS creates a weird feeling in muscles that feels “numb”ish. There is also pain and sensory abnormalities.

      Then EMG, read the literature, it’s not great and has to be guided by the initial exam.  My super EMG Drs didn’t even do the needle placements my neurologist ordered.

      Lastly, there is a major incentive to avoid a false positive.  So they default to letting patients decline where no tests are even needed, because a 1st year could see it.

      I don’t like being so cynical, but ALS dx requires both skilled primary care and general neurology.  Two specialty care areas that are becoming harder to obtain.

      What should happen.

      Quality Neuro exam. If UMN signs are observable, scans and blood work to rule out list. If everything ruled out, honestly say, we don’t know but symptoms are consistent with early MND and we should see each other every 3-4 weeks to see if progressive.

      Anyway, my point is we could do much better with what we have until there are biomarkers.




      • #20453

        I nearly completely agree Mark, except the bit about biomarkers.
        We have a good biomarker, it is TDP-43 aggregates in cell’s cytosol, it appears in 97% of ALS cases, it could even be detected in the blood stream.

        Why is it not used? Perhaps because it does not fit the narrative about this disease that scientists expect. TDP-43 aggregates are not specific to upper motor neurons, it indicates a systemic problem.

        Plus most actual cases of neurodegenerative diseases have a mix of proteopathies, the patients have perhaps mainly ALS, but also proteopathies such as what is found in Parkinson, FTD, Alzheimer, etc. Neuros with their beloved EMG test can’t detect that.

        So much for the clear textbook definition of ALS as mainly a disease of upper motor neurons as described above.

        Max Plank famously said that science progresses one funeral at the time. Do we have to wait for a new generation of scientists to discover effective drugs?

        Perhaps not, there is now a flurry of activity on TDP-43, for example Promis Neuroscience made news about it few days ago.

        • #20454
          Mark Shefsiek

          Until established test it doesn’t exist and even then…

          It took me well over a year to get the full MG blood panel. My mother had MG and it should have been fully tested on the first visit when I complained of jaw weakness when eating.

          Ordering tests is point and click.


    • #20458

      The protein biomarker is still being studied. My understanding is that it is the same protein that is elevated in other diseases and they are trying to determine what level is indictive of ALS and not another disease. Insurance companies will not pay for tests that are considered experimental or not confirmed by research.


    • #20481
      Jim Conner

      I was diagnosed with ALS in late Oct. 2019. I went to Mayos in March 2020. The first day they thought I had Kennedys. They did a couple of genetic tests, spinal tap, a blood test and sent me back home. Got a call a few days later that I had ALS cause the tests were negative. They were fooled too.

      The funny thing was a few medical folks did not believe I had ALS. There had not been a case in my former small town for over 30 years. None of the doctors there had ever had an ALS patient, even the older doctors. My chiropractor is the one that suspected first and sent me on journey, crappy as it has been. I always thank him.


    • #20486
      Mark Shefsiek

      The exceptions often prove the rule itself needs to be reconsidered.

    • #20515

      For diagnosis of ALS – neuros follow Gold Coast criteria which is considered most apt at this time –

      The Gold Coast criteria for diagnosis of ALS require (1) progressive motor impairment documented by history or repeated clinical assessment, preceded by normal motor function; (2) presence of UMN and LMN signs in at least 1 body region (with UMN and LMN dysfunction noted in the same body region if only one body region is involved) or LMN dysfunction in at least 2 body regions; and (3) investigations excluding other disease processes.

      My diagnosis story: I was examined by 4 neurologists over past 10 months, the first one used only 1 and 2 (did EMG and NCS) of Gold Coast above, and came to conclusion of ALS. Whereas 2nd did EMG and NCS and also many other tests (MRI, LP, blood etc) and concluded multifocal motor neuron disease which is treatable with IVIG, I did about 5mo treatments but did not improve the symptoms. The 3rd neuro did very detailed examinations – with additional blood tests, concluded PMA. The 4th one just went by Gold Coast and concluded ALS.  The 3rd neuro says I have not any symptoms which qualify for ALS, he mentioned Flail Leg since weakness is only limited to lower limbs.  I am soon due for another EMG / NCS to check for any progression.  My weakness continues and limited to legs only.


    • #20527
      Mark Shefsiek

      <p style=”text-align: left;”>I had long consult at the neuro-muscular clinic and Cleveland Clinic yesterday.</p>
      The first thing the resident said was “wow, you have a chart.” I said yes it is a mess and we talked extensively about it.

      Then, he gave the most organized and complete Neuro exam I have ever had.

      Surprise! It confirmed everything I have been telling (and being ignored) the neuro-muscular specialists at UPMC. The thing about physical exams is you have to actually do them, not cut and paste notes from other exams that were not done.

      The previous EMGs did not test areas of primary weakness, so yet another complete study, the one that was ordered 22 months ago and never done.

      I get so stressed for doctor’s appointments, especially new Drs because you have no idea if they are going to do their job and if they don’t, you really have little recourse at the time.

      While the progression/outcome would have been the same, I really would have liked to live aspects of the last two years differently.





    • #20533
      David Crellin

      I went through the whole gamut: vitamin defficiency as I’d become vegan; nerve damage from surgery & numerous traumatic injuries; arthritis in my neck; damage caused by ‘bare-foot’ running.

      What occurs to me now is that no GP or neurologist asked until I had a confirmed diagnosis if family members died from ALS or early-onset dementia. I did keep telling them that my mother died aged 49 with ALS.

      Prof Dame Pamela Shaw, who now is in regular contact with me, is campaigning for genetic testing to be made available to everyone on diagnosis. This has numerous benefits, not the least of which is a greater pool available for research & clinical trials.

    • #20540
      Fran Finney
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