Questions about PLS en ALS

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LuposMaximus

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Hello,

First of all, my apologies for disturbing.
I am a man, 27 years old in Belgium.
Everything started at the end of 2018, beginning of 2019. I started suffering from muscle tremors all over my body. Then I started looking up and I ended up in a rabbit hole. I then started measuring my legs. My right calf is 1 cm narrower than my left calf and my right thigh, so just below the hip. Is 2 to 3 cm narrower than my left upper leg.
Walking is no longer possible, this puts too much pressure on my right leg.

We are now 2021 and I have had 7 emg's, 3 mri's and a hundred thousand blood tests. I am scared every time, that this could be ALS, that this is too early. I have read stories here of people who said the first emg's were clean and then still had ALS.
I don't want to bother people here. But could this be PLS?

The first EMG in February 2019 was the EMG, with the most "damage on".
First, I was treated by a number of neurologists here in Antwerp: Here are the results of the studies:

This was the result of the first consultation:


* EMG OL ZNA Middelheim 02/2019:
Nerve conduction Re : normal SNAp's, MCV's, F waves and H reflex S1
Needleodner search Re : no resting activity, normal insertions. Interferential / intermediate contraction tracts. Thv
multiple muscles there is acceleration with polyphasia
Conclusion : no indications of polyneuropathy / anterior horn lesion
The needle EMG can fit with myogenic suffering : MRI muscles will be planned after which re-evaluation on the consultation in
Reet

* MR pelvis and shoulders AZ Rivierenland 03/2019:
Description:
Preserved muscle architecture and signal intensity in the muscle tissue at the level of the shoulder girdle, pelvic girdle
and both upper legs. No muscle edema. No lipomatous atrophy or other signs of degeneration. Normal
Aspect of the subcutaneous adipose tissue. No pathological free fluid in the small pelvis. No arguments for
mediastinal adenopathies. No enlarged axillary lymph nodes.
Decision
Normal MR examination of the muscles at the level of the shoulder girdle, pelvic girdle, and thigh. No
signs of myopathy or denervation.

* EMG OL ZNA Middelheim 06/2019:
Nerve conduction Re : normal SNAPs, MCVs, F wvaes and H reflex S1. Fairly small CMAPs n peronealis
Needle examination Re : no resting activity, normal insertions. Interferential / intermediate contractile tracts. Slight
Acceleration and polyphasia thv muscles Re upper leg / myotoma L2/L3
Conclusion : normal nerve conduction. Persistence of chronic neurogenic (myogenic?) suffering in the upper leg with slight
slight acceleration and polyphasia at myotoma L2/L3(L4).
Cause ? status after infection/inflammation ?
Re-evaluation after 1 year

* EMG OL AZ Rivierenland 09/2019:
Nerve conduction : normal SNAPs nn surales, MCVs nn peroneales (CMAP Re < Li) and nn tib post (normal
CMAPs). Normal MCVs and H reflexes S1 relative to the length
Needle examination : no resting activity, normal insertions. Interferential / intermediate contraction tracts myotomes L2-
S2. Discrete acceleration and polyphasia Re m TA and ext hall (edge normal).
Decision
No more significant abnormalities on needle examination
Persistent small CMAP Re n peronealis

* MR LWZ AZ Rivierenland 09/2019:
Preserved vertebral heights. No indentation fractures. Normal position of the conus medullaris.
L2-L3: no significant disc bulging. Spinal canal and conjugate holes permeable. Preserved
facet joints.
L3-L4: minimal posterior disc bulging. Spinal canal and conjugate holes permeable. Preserved
facet joints.
L4-L5: again, discrete posterior disc bulging exists. Spinal canal and conjugate holes passable.
Preserved facet joints.
L5-S1:No posterior disc bulging. No spinal stenosis. Permeable conjugate holes. No facet arthrosis.
Decision
No significant discopathies. No significant posterior disc bulges or disc herniations. No
detectable foraminal root conflicts. Preserved facet joints. No spinal stenosis.

* Echo right hip 11/2019:
The gluteus medius tendon at the insertion of the posterosuperior facet of the trochanter pajor occurs swollen
hyporeflective, suggestive of a subacute tendinosis. Surrounding pertrochanteric bursa fluid.
Less pronounced tendinosis of the gluteus minimus tendon. No enthesopathy or calcification observed.
Normal recuts femoris tendon, sartorius tendon and tensor facialata tendon.
No intra-articular fluid noted.

* EMG OL AZ Monica 03/2020:
Nerve conduction : normal SNAPs nn surales, MCVs, CMAPs and F waves nn peroneals and H reflexes S1
Needle examination Re OL : no resting activity, normal insertions. Interferential, not accelerated contraction tracts
myotomes L2-S1
Conclusion
Normal and symmetrical nerve conduction OL
Normal needle EMG L2-S1 Re

* MR neck/shoulder girdle/pelvic girdle/upper legs/lower legs AZ Monica 03/2020:
Axial T1 turbospine echo.
Axial T2 Dixon with fat and water images.
Normal aspect of the neck, shoulder girdle and pelvic girdle musculature.
Normal aspect of the upper leg musculature.
Impression of slight diffuse oedema in the gastrocnemius and soleus musculature of the left calf; possibly also to a
discrete degree

Then I went for a second opinion to the hospital in Ghent. UZGent. It is a large hospital in Belgium with Professor Jan De Bleeckere, one of the better known neurologists in Belgium.

In Ghent all the tests had to be done again, but now the neurologist says that there is 4 cm leg circumference, while when we measure it at home it still remains the same.

Patient consults us asking for a second opinion in regards to more than one year existing feeling of
for more than a year existing feeling of trembling over the whole body musculature with one month later also arising of weakness in the right
A month later weakness developed in the right upper leg with anamnestically also a component of exercise intolerance. Iv. of additional pain in the
right hip at the end of last year a subacute tendinosis of the gluteus medius tendon on the right was diagnosed. For the
other complaints the patient was worked out at several colleague neurologists in Antwerp with biochemically only a
mild hypercalcemia and otherwise reassuring findings. EMG of the lower limbs showed initially at
repeatedly a picture corresponding to neurogenic or myogenic suffering, but on the last EMG in March this year
normal findings were described. MR of the soft tissues on the other hand was initially normal, but
earlier this year showed a slight diffuse oedema in the musculature of the left more than the right calf, with normal aspect.
right calf, with normal aspect of the proximal musculature though. MR of the lumbar vertebral column showed no
explanation.
On clinical neurological examination today we withheld a normal segmental force test and a normal
musculature. The Achilles tendon reflex shows asymmetry to the detriment of the left without additional lateralization,
except for a remarkable difference in circumference of almost 4 cm of the upper legs at the expense of the dominant right leg.
right leg. We plan further development here with, in the first instance, repetition of the EMG of the right arm and leg.
right arm and leg. Following the consultation, we plan an extensive lab with CK's, autoimmune bilan, serologies
bilan, serologies and an ischemic workup test.
Control is provided after the EMG.

This is the answer of the second time in UZGent:
Clinical neurological examination:
Conscious adequately oriented patient.
Nn. craniales without abnormalities.
Force:
Normal trophy, no fasciculations visible.
Quadriceps circumference (10cm above patella): 53cm li and 50cm re.
no scapula alata
symmetrical normal segmental force 5/5 thv upper and lower extremities, proximal and distal.
Barré/Mingazzini negative.
Sensibility: normal indicated superficial sense of touch.
Reflexes: symm vivid, APR present bilaterally.
Normal gait pattern.
Unipodal position normal.
Technical examinations performed:
* EMG:
Susceptible conduction study:
" Normal SNAP for the n suralis right
Motor conduction study:
" Normal DML, amplitude, and conduction velocities for peroneal nerve to EDB right
F-waves: normal latencies
Needle examination:
" Spontaneous muscle fiber activity: absent
" Normal morphology MUAPs and normal recruitment
Turns/amplitude (m rectus femoris): normal analysis
Thus normal EMG. Ihb. m question no arguments for myopathy.
* lab
Nl PBO, nl kidney x, nl ionogram, nle liver set, sed nl, CRP neg
nl FZ and Vit B12
proteinEF normal, IgG/A/M nl
CK nl, LDH nl

nl TSH and FT4
plasma lactate 0.73 [0.9-1.7]
RF, anti-CCP, ANF, ANCA, anti-ENA neg
anti-ganglioside AL'n neg
serologies:
- Toxo, Borrelia, HSV, HIV, HBV, HCV, HEV negative
- HAV, EBV, CMV passed
- VZV IgM borderline, IgG pos


And this is the last report at UZGent in April this year.
Each time in Ghent I have had a different neurologist assistant, other than the last time I had a 5 minute conversation with De Bleecker. He asked me if I had any pediatric plans this year? Then they took my blood again for a DNA test to see if this is not FSHD. I am getting mentally tired of this. Since 2019 I have been looking at already what is happening to my body. What is causing these spike tremors and what made this atrophy and muscle weakness in my right leg?

Also come in to the hospital in Ghent and they only speak negative or the Universiteire hospital in Antwerp. I pay a lot of money for these appointments, then I want to be helped and know what this is instead of telling me which neurologist is good or bad, in this hospital.

Now at the last appointment in April, he suddenly started talking about my shoulder and shoulder muscle? It never occurred to me before:

Conscious, adequate, oriented.
Normal OVB.
Normal facial mimicry and sensibility.
Median tongue protrusion. No fasciculations or atrophy.
Sensibility bilaterally normal and symmetrical.
Segmental force everywhere 5/5 but trophic:
- impression of right some atrophy thv the shoulder girdle with there also discrete scapula alata on force testing
- Clear atrophy of upper and lower right leg.

Could this be PLS? Can I give my head a rest that this is not ALS? In September I will go to the Neuro Muscular Center in Antwerp.

This was the last explanation
He consulted us for the first time in August 2020 after complaints of muscle weakness in the right upper leg next to
muscle tremors' (to be considered fasciculations?). There was clinically a striking atrophy of the right thigh
retained. Sir was very worried about a possible motor neuron disorder, but serial EMG was able to
reassured.
We learn today that his pattern of symptoms is definitely stable, with no arguments for progression. Also EMG
today is reassuring.
On clinical neurological examination we do indeed note a clear asymmetry in trophic status of
his musculature, with atrophy of the right upper and lower leg, next to discrete scapula alata on the right compared to the left. Clinically
image could still fit a fascioscapulohumeral dystrophy.
We plan a genetic check-up and will see Mr. Back within 1 year

Sorry, i wanted to say that running is no longer possibly, because the right leg is fast fatigue. I can walk. But when i walk 15 km, my left leg is compensating for the right weaker leg. When i do stares, right leg is easly fatigued.
After two years can this be pls or a slow variant?
 

Nikki J

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You never had anything on emg that looked like ALS and as far as I can see nothing on your clinical exam. PLS has some pretty obvious findings and you have had multiple exams so I don’t think that would be your answer. There are a huge number of neurologic diseases besides ALS and PLS and it sounds like you probably have one. It is very frustrating I know to have to keep looking but your answer doesn’t seem to be here which is a good thing
 

LuposMaximus

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Thank you for your answer. Sorry for interrupting but i was trying to say that i can still walk, but when i cannot run anymore. There is too much preassure on that leg. I also think that my lef leg is getting bigger because it has to compensate for my right leg. When i walk 15km, i feel that the left leg has to compensate for the right leg.
 

Nikki J

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Yes that is understood but there are many reasons for that and your exams and tests indicate it is not ALS or PLS. Saying it is neither of those as far as we can see does not negate your symptoms Simply there is something wrong but we are not neurologists and can’t even see you or examine you we can only say it does not seem to be in our area of personal experience. Please work with your doctors
 

Clearwater AL

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Get Real
Being your Thread is 1,850 words, 163 paragraphs and 233 lines and as Nikki wrote...
"There are a huge number of neurologic diseases besides ALS and PLS and it sounds l
like you probably have one."

(*I'm breaking my self imposed desire not to reply to this sub-forum anymore but...
Maybe this might help you... being that ALS nor PLS is in your picture.)

Below is a list of early symptom mimics that make a diagnosis
of ALS/PLS a process of observation, testing, and elimination.

The first two are the most common neurological determinations.
Not applicable for you… whatever.

Anxiety
Benign Fasciculations.
Myasthenia Gravis.
Multifocal Motor Neuropathy.
The Parsonage–Turner syndrome.
Spinobulbar Muscular Atrophy, or Kennedy's Disease.
Demyelinating Syndrome
Asymmetrical Spinal Muscular Atrophy.
Cervical Polyradiculopathy.
Facial-onset Motor Neuropathy.
Chiari Malformation Syndrome
Hereditary Spastic Paraparesis.
Primary Progressive Multiple Sclerosis.
Metabolic Myelopathies.
Corticobasal Degeneration.
Cervical Myeloradiculopathy.
Multiple Sclerosis.
Carpel Tunnel Syndrome.

And... there may be others Neurologically related.

I hope your doctors find a treatable and hopefully curable finding within your
complicated case study.
 

lgelb

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They are looking at a form of muscular dystrophy, FSHD. That corresponds with the myogenic findings seen on some of your EMGs and the atrophy noted clinically. But there are hundreds of muscular dystrophies -- and adult onset variants are usually milder, though I know it doesn't seem like that to you.

The good news is that myogenic processes are completely different from ALS and PLS, which are neurogenic. And based on what you have described, you will experience much less disability throughout your life than the people with those diseases will.

Honestly, the investigations you have pasted in seem pretty much on point. The only thing I would say, which they probably have as well, is that there may come a point when diagnosing the "label" of whatever you have may not be as productive as just classifying it as some sort of insidious myopathy, at which point the team can focus on the mobility aids, therapeutic exercise, etc. to minimize its effects. If there is an inflammatory component suspected, a steroid or other medication trial might even be contemplated, though to date FSHD itself has not seemed responsive to short-term steroid use.

Accordingly, I would ask about physio, empiric medication (depending on the differentials that remain after the latest testing), and/or adaptive aids like an orthosis, as the diagnostic process proceeds or stalls.

Best,
Laurie
 

LuposMaximus

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Thank you for your responses and your time. I apologize that the text was so large, but wanted to include all the results of the EMGs and the MRIs.

I understand your reaction. But I just don't really understand that after 2.5 years of examinations, they can't find anything that is present now. Because I went through the rabbithole I have read stories of people who had 6 years of research. If there is something degenerative in there, it should be seen, right? That's why I asked the question for PLS. Because there are no results found during the emg exam, right? My apologies for interrupting. September 16 is my appointment at the neuromuscular center in Antwerp. I will not post any further text. Thank you in advance!
 

lgelb

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You can't jump to PLS because of a negative EMG. Your account doesn't reflect what we know of that disorder, so you can have 20 negative EMGs and that will still be the case.
My advice is to stop reading about other people, whose accounts are past, biased, and about different biology than yours.
I'm sorry the diagnostic process has been prolonged, but playing it out is still the best course.
 

LuposMaximus

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EMG foto 1.jpg

EMG Foto 2.jpg
 

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LuposMaximus

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These were the resulsts of the latests EMG. I have to go to the neuromuscular center in late August and mid-September. After that I will post those. They themselves tested my back last time and also my arm but they didn't include it. I find that very strange.
 
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