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Why is ALS so difficult to diagnosis?
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. https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Motor-Neuron-Diseases-Fact-Sheet#3144_1
Were you diagnosed with anything other than ALS initially? Have you or anyone in your family been diagnoses with another Motor Neuron Disease?
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19 Replies
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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.
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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.
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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.
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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.
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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.
Amanda
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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.
LIONS NOT SHEEP
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The exceptions often prove the rule itself needs to be reconsidered.
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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.
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<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.
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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.
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I recently read about another test (would probably be through something like a spinal tap) that might facilitate an earlier diagnosis: https://www.neurologyadvisor.com/topics/neurodegenerative-diseases/elevated-levels-of-neurofilament-light-and-heavy-chain-as-diagnostic-biomarkers-for-als/?utm_source=newsletter&utm_medium=email&utm_campaign=na-update-hay-20210921&cpn=neuro_all&hmSubId=8Z2OTprZSSA1&hmEmail=w09-ckhqUPfRCuppwXwR1fiAWyDGhZct0&NID=1326184821&email_hash=c61868f9b224fc324de423ed14eb8e2d&mpweb=1323-154011-44948
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I’m curious if anyone has had a doctor mention abnormalities on brain MRI as part of diagnosis or follow-up.
You would have heard something like (T2 FlAIR hyperintensities).
There is a literature on neuro-radiology and motor neuron disease but it doesn’t seem to be utilized.
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Hi Mark, I began participating in an MRI study of ALS at Newcastle-upon-Tyne, UK just over six months ago. Three hours of intensive scanning every six months. The researcher is applying for grants to extend the study and I have suggested my 29yr old son joins the study. He carries the c9 mutation I have.
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And as part of the Focus C9 study I’m a sentinel participant MRI scans of the brain are a regular feature.
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Diagnosed with ALS May 2021 my story dittos much of this with the plot twist that I was born in 1952 within 2 years of my mother having bulbar polio.
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I was diagnosed with Pseudobulbar Palsy in Sept of 2020 through a one hour MRI at NYU Cornell . I had a series of blood tests to rule out Myasthenia Gravis and other ailments.
I had experienced symptoms in Dec of 2019 with difficulty articulating certain words. At that time I was prescribed an aerosol steroid to swallow for treatment of esinophilic esophagitis. I thought there might be a connection but my doctors thought otherwise.I am currently under the care of Dr. Rothstein of John Hopkins and Dr. Leitch of Robert Woods Johnson Rutgers. They have concluded that I have Progressive Bulbar Palsy.
To date my speech has been getting worse and I have weakness in my thumb and index finger of my right hand.I like many take a full load of supplements including Tudca, Theracumin, Alpha Lipoic Acid, Lions Mane, Selenium, Magnesium, Balance of Nature Fruits & Veggies and others.
The prescribed drugs are Rizuole 50mg 2x a day, Nuedexta 20-10mg 2x a day and Glycopyrrolate 1mg 2x a day.
One of the best meds is just to realize that healing is already in us, “but” we must believe and don’t let anything rob you of today.
God Bless you all
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My only diagnosis has been ALS. As far as family members we have had FTD, MSA both fatal, a rare nerve disease of the vocal cords and my ALS. Four diseases , all rare, four different family members. No clue yet as to what genetic mutations in play. 3 of 4 are in genetic study.
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Als forums and dx
I want to thank people here for really helping me out by chatting and reading your stories.
Most forums across all patient sites are disease specific, like medical clinics, which has advantages because of specific knowledge and experience. The disadvantage is it is often not that easy. Either people are undiagnosed, have multiple diseases, or odd presentations. People in the “possible” club are often attacked on forums where they are going because they are desperate. That’s very unfortunate because Neurological illness, every one overlaps to some degree with every other one.
This forum is extremely kind to people trying to figure out what doctors obviously have been unable to do.
This really helps ALS patients and everyone else. If doctors had the time or inclination to study forums they could greatly improve care.
Over the last two to three years people keep asking me, why do you think you have ALS. It’s not diagnosed. The answer is I didn’t, but it looks like it, all the mimics were ruled out and I was referred to multiple ALS specialists until they ruled out ALS as well. It was hard to understand because 1) my brain isn’t working well, 2) it cannot be nothing as you lose your ability to live.
So update:
Originally I thought my illness was autoimmune. The neurologists thought it was until it was “ruled out” that only left MND or mental illness, and no one thought about psych until my bulbar signs were deemed not Neuro.
What never made sense to me was the relapsing quality and history of stroke like episodes when younger. I brought this up all the time but Drs did not consider life long issues only current. The autoimmune markers were too “non-specific” or unrelated.
Wrapping this up, I am certain the mimic they ignored was autoimmune encephalopathy with anti thyroid antibodies. It is even more rare, at least by # diagnosed than MND. The patient stories are horrifying far worse than my terrible history.
The first doctor I sent my records to is one of the experts in the field but he declined. I contacted Mayo Clinic yesterday and am going to harass them until they see me. If not, mexico has good pharmacies.
Thanks again, the ALS community is unique and I am glad I got to know some people a little. If I can ever work again I will definitely try to help out.
You are all in my prayers.
Mark
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I think the above replies have about covered it: lack of simple biomarkers and paucity of expertise in primary care providers and even many specialists. I’m currently in the throes of a possible ALS diagnosis and have been shocked by the amount of mistakes I’ve seen GPs and even neurologists who aren’t ALS specialists make. Few seem to genuinely listen to the patient, so miss vital signs. This is compounded because knowledge of the disease is poor. One EMGer told me I couldn’t have ALS because ‘ALS doesn’t start like that’ (my first symptoms were sudden inability to burp normally and chronic yawning, followed shortly by facial twitching and swallowing difficulty). He clearly had not heard of bulbar-onset which can come on exactly in this way, seemingly thinking limb-onset was the only variety. The EMG is a faulty test, only as good as the provider. I can’t recall the precise article but I read recently that even in the hands of a skilled practitioner it was only something like 70% accurate in detecting ALS – but don’t quote me on that. In short: the diagnostic process is a mess and in dire need of reform. Discovery of biomarkers and better training for GPs and other doctors who aren’t ALS specialists would be a start.
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> He clearly had not heard of bulbar-onset
> The EMG is a faulty test, only as good as the provider. I can’t recall the precise article.
It could be for example:
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8596501/Where they tell:
Nonetheless, not all neurologists correctly diagnosed ALS patients at first evaluation (55%), even if an EMG was requested (75%). Although not systematically investigated, the most common alternative diagnosis in the EMG report was severe root lesion and spinal stenosis, in particular for patients with LL onset and preserved UL, bulbar, and respiratory function.
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After they ruled out everything else over a period of years , one excellent Neurologist concluded that it is ALS. Later confirmed by EMG by a Neurologist that manages two ALS clinics . My younger brother has PD and my older brother died with AD and Covid, but otherwise I know of no family history of any of it . Personally, I wanted to avoid the medical establishment for as long as possible .
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