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LemonTree

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My father was diagnosed with an ALS or a very similar condition. He was treated in a third world country, which cannot pride itself with very advanced diagnostics, so I thought that it would be worth to ask for a second opinion online. I'll try to be very concise.

60 year old, male, 80kg (stable, no weight loss)

General:
- severe weakness, short breath, symptoms for 1 year (following a bacterial infection according to the patient)
- mixed descriptions about the progression and starting symptoms/areas
- muscle wasting
- negative Romberg test
- negative Nystagmus test
- drives a car (yesterday for 3 hours), can climb 25 stairs slowly
- condition is deteriorating quite quickly

EMG:
- diffuse lesion of motor neurons, heavy degree in distal region of all limbs, with fasciculations
- no sensory neuron issues
- recruitment pattern, mostly severely reduced
- confirms Lower Motor Neuron disease

Arms:
- suspected muscle wasting of abductor pollicis brevis, weak thumbs, weak pinch grip, good power grip (4 fingers holding)
- able to write well, but about 25% slower than a peer
- can strengthen the fingers/hand (otherwise would suggest MMN)
- Wartenberg sign negative

Legs:
- Mingazzini negative, with gradual sinking


Speech:
- slight disturbances appearing lately
- patient wears denture since recently, blaming slightly increased salivation and speech disturbance on the denture
- weakness to cough

Upper Motor Neuron evidence:
- hyperreflexia (symmetrical) - could not identify any alternative cause
- pseudoclonus feet (suspected by one doctor)
- probably no spasticity
- negative Babinski
- negative clasp-knife response
- pronator drift ok
- no pyramidal deficit
- cannot confirm upper limb extensor weakness (can lift 8kg weight with triceps, 5 times correctly, plus 5 more with effort in continuation)
- cannot confirm lower limb flexor weakness (when legs bent in knees and hip, examiner/me could not strengthen the legs in knees against the will of the patient)

Thyroid hormones: ok, but Hashimoto elevated (can possibly give a hint of autoimmune process within the body elsewhere)
Ultra sound of thyroid gland - mostly ok

CSF test: protein levels are ok, lymphocytes 0.33*10^6/L

Blood test: mostly ok, sedimentation slightly elevated, creatine kinase ok, still waiting for results for GM1 and GM2 anti-ganglioside anti-bodies, vitamins and electrolytes - ok, Lyme negative, (any other suggestion?)

MR, fine with the exception of neck region: dorsal protrusions, fully reducing front liquor space, but no traces of compressive myelopathy. Stenosis of certain foramens.


Question:
Is it possible to confirm the diagnosis of ALS?


ALS:
- Lower Motor Neuron lesions without doubt
- Upper Motor Neuron lesions assumed due to presence of hyperreflexia
- abductor pollicis brevis muscle wasting, likely for other muscles as well
- LMN lesions are described as diffuse (vs. MMN)
- if ALS, then limb onset

Multifocal Motor Neuropathy:
- contradicts hyperreflexia (as listed above), but other UMN tests are negative, while symptoms are evident
- Hyperreflexia could be caused by neck MR findings
- CSF protein content low (less likely for MMN)
- pending results for GM1/2 anti-bodies
- EMG does not describe conduction blocks specifically

Any other mimicking condition suggestion would be helpful?
 

Clearwater AL

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Good job, your description is almost as good as Neurological case studies found online.

Maybe one of our very knowledgeable members may help you.

I'd think it would be more definitive to get a second opinion from a Neurologist.
 
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Atsugi

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Would help to know where he is.

Also, he can drive, walk up stairs, and write. What is it he cannot do?

Curious: Who wrote that? (Some of it seems verbatim from the chart, but some seems to be personal conjecture not verified by doc.) It might be helpful to know which is which.
 

KarenNWendyn

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It’s hard to make a diagnosis without seeing the patient. From the description above, it sounds like generalized weakness, some reduction in pinch grip, some vague speech abnormalities, hyperreflexia. Based on just that information, ALS is possible, but more information would be needed.

Then we get to the EMG. It would be helpful if you could post the actual EMG summary, or a translation. Looking for more information than just recruitment. Eg, some mention would be helpful of insertional activity, sharp waves, fibrillation potentials, denervation, reinnervation, location of where abnormalities occur.

Even if we have all the above info and it points towards ALS, the best we can do is state whether or not ALS is likely. It will still take a neuromuscular disease specialist to make the final call.
 

LemonTree

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My mother is a neurologist, but she never had a patient with this diagnosis and doesn't know too much. I prepared it myself and had her help to verify some inputs, thus I would assume it coming from a medical professional. It is combining reports of several clinical neurologists and extensive medical analysis over the past few weeks. He was treated in Serbia so far.

He can do these activities with significant effort and for short amount of time. His general condition is poor and is worsening. Extensive diagnostics excluded oncological conditions, to the extent we could think of. Half an hour walk the other day made him very tired, to the extent he had trouble speaking in the middle of the day. He could not cut food on another day.

I am thinking to ask if it makes sense to prescribe immunoglobulin 160g/day for 7 days. The GM1 and GM2 anti-bodies should be done by the lab by Saturday. It will drive the decision on whether to proceed with immunoglobulins.

At one point T3 hormone of thyroid gland was elevated, so I was hoping that it was causing hyperreflexia, but it is now within the reference range and hyperreflexia is still there.
 
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LemonTree

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EMG report attached.

Very brief narrative was provided as well, translated below (difficult to grasp the meaning even in the original language):
REMG diagnostics shows existence of diffused neurogenic lesion of severe degree in distal muscles of both upper and lower limbs with moderate innervation, mostly fasciculations. [Sensory velocity conduction [SBP]] reduced in lower limbs, with lower amplitudes of EP. In lower limbs, two distal latencies are extended with with partial reduction in [motor velocity conduction [MBP]] and reduction in amplitudes of motor EP with extensions of distal latencies for both n. medianus.
EMG confirms lesions of proximal lower motor neurons as part of MND, with presence of sensorimotor polyneuropathy.
 

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Clearwater AL

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Lemon, as previously asked could you post the actual EMG summary/conclusion?
Last page, generally a paragraph near the bottom.

Being your mother is a Neurologist would she consider becoming a member?
She would be an excellent CALS.

Do you have a medical background?

The reason I ask is from what you wrote...

"I am thinking to propose immunoglobulin 160g/day for 7 days. The GM1 and GM2 anti-bodies
should be done by the lab by Saturday. It will drive the decision on whether to proceed with
immunoglobulins
 
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LemonTree

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I don't have any medical background. I did find myself in a situation where few doctors understand the condition well and had to do my own research over the past week or two.

Do you have a medical background?
 

Clearwater AL

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Wow... you've learned a lot in a week or two. Your medical terminology is
excellent. Amazing.

Again, can you post the actual EMG report summary/conclusion?
 

lgelb

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Al, Lemon did post the interp of the report here.
 

Clearwater AL

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Ok, excuse my lack of medical knowledge and medical terminology.
There are two photos of the charts, thought she might post the last
page. But... my mistake.

Is it a diagnosis of ALS?

Don't want to keep Lemon up... it's late over in Serbia. :)
 
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KarenNWendyn

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If one is using El Escorial criteria for diagnosis, the requirement for definite ALS is upper and lower motor neuron involvement in at least 3 of 4 spinal segments. EMG can substitute for lower motor neuron involvement in the absence of clinical weakness.

So it sounds like we have documentation in the upper and lower extremities by physical exam and/ or EMG. Though there are symptoms of shortness of breath and some vague speech abnormalities, it is not clear to me if EMG abnormalities have been documented in either the thoracic or bulbar regions (please correct me if I missed something).

So I would say we’re dealing with possible ALS. To get a firm diagnosis, he should see a neuromuscular disease specialist. He might also need to be observed a little longer (unfair as it may seem) to monitor for disease progression, and possible spread to bulbar and/ or thoracic regions, or documentation of characteristic EMG abnormalities in these other areas.

I’m not sure what other ALS mimics need to be ruled out, but a neuromuscular disease specialist can advise there.
 

Clearwater AL

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Karen,

As little as I know as to others here, I saw moderate innervation, mostly fasciculations.
I thought there had to be indication of denervation and reinnervation for a diagnosis of ALS.

Was that mentioned in other terminology?
 
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lgelb

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Al, the first page that Lemon attached demonstrates acute denervation via PSWs, fascics and fibs. Chronic reinnervation was suggested by large motor units, decreased recruitment, increased amplitude and duration. So judging by this page, if the history/progression synched up, the criteria for demonstrated LMN dysfunction appear to be met.

I have attached a paper outlining the EMG criteria.

Best,
Laurie
 

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