Many symptoms

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Jbeezy

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Feb 4, 2022
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Learn about ALS
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Brooklyn
Hi my name is John, I’ve been having symptoms of what I perceive to be neuromuscular. For about two years, I’ve had a weak cough, which has progressively gotten worse to the point where I can barely get a breath in and strength to expand diaphragm and chest and cough out. I have muscle loss in my chest. Recent EMG with an ALS specialist in NY said “I don’t have ALS right now” I however had chronic denervation in my legs and chest. I am also experiencing loss of muscle in my left hand and some in right. My left hand is developing the atrophy you would see in split hand. The back of hand between thumb and index finger and also the flip side of hand on bottom of thumb, hypothenar I guess. Muscle twitching everywhere except the tongue. Been checked for every disease under the sun. Both neurologically and pulmonary and metabolic and mitochondrial. Anything you can mention, I’ve probably done it and multiple times. All the typical mimics of ALS also. I’m freaked out this really is ALS and not sure combined with other symptoms what other diseases cause muscle loss in that part of hand. Also couldn’t open jars, or even the toothpaste cap. EMG showed some carpal tunnel in that hand but carpal tunnel even when severe not sure it causes atrophy in that spot. Doctor said today, he has to see something more objective and said all we can do is watch and see. But nonetheless, very scared.
 
Hi John
I can see how scared you are without a diagnosis.
I'm glad you have seen an ALS specialist, but I'm not sure why you would not believe them.
You seem to be presenting with symptoms all over your body, and that just doesn't make sense for ALS if you are passing clinical exams and EMG as well.
Maybe you are not addressing the causes of the carpal tunnel, you are maybe doing repetitive things for work/hobby/leisure and this could all be part of the problem.
I guess you need to address your fears now with your doctor as 2 years is a long time to be so unwell and yet have nothing that shows on exams and tests.
I hope you get to the bottom of all this, or find a way to live with what is happening. I certainly would not say the ALS specialist is wrong, it doesn't present as ALS. However, there are medical issues that can take a long time to pin, so the doctor is right that watch and see may be the only option. All the best.
 
What makes you say that it doesn’t present like ALS? The timeline? The actually symptoms? It’s not that I don’t believe them. I just know that even if they had a hunch it was ALS they won’t say so because the test shows damage you find in ALS just not enough of it. She said follow up with her in a few months. It’s basically to say, she can’t rule out ALS 100%, we have to keep watching. Obviously what freaks me out is that I’m still getting worse.
 
Symptoms that you report all over, yet no clinical findings.
Please, we can't say you 100% don't either, and I'm not sure what you hope we might say.
You are being looked after by experts, I hope you can get help with your fears in the meantime as no matter what diagnosis they do or do not come to at any point, you won't get this time back.
You can't control when you will get a diagnosis, but you can take control of how you spend your time until then.
I hope you get answers soon, but we won't be able to speed that process up.
 
You seem to believe you have respiratory onset ALS If it were so after 2 years many would be dead and virtually everyone would need respiratory support. What do your pulmonary function tests show? Your arterial blood gases? Do you have bipap?
 
I showed this to my neurologist and he says he doesn’t see atrophy. He just doesn’t want to entertain the idea of ALS. I’m 35, I get it, but last week, he finally got to a point where he said let’s just wait and see how you progress. He can’t rule in or out what it is and for ALS he said it has to be objective for him to say it is. I get it. And the only clinical findings were chronic denervation in my legs and chest. Chest being the worst and weakest area. Can’t get a breath and can’t cough. Hand is also very weak as well as my legs, but mildly. Breathing is the worst.
 
We don’t do pictures here. Can’t tell anything from them Your neurologist is the person to say atrophy or no. He did. we won’t disagree.

I asked reasonable questions about tests that you ignored.
 
Unfortunately when people with no medical training are sure they know more than their doctors it becomes almost impossible to explain anything to them.
Of course the doctor, when pressured by an anxious person, can't rule out 100% that you cannot possibly have any disease you push at them, and so they will say: let's watch how you progress. You push him to this, then go: aha, I knew he suspects it after all. sigh.

Please remember you are complaining to people who breath with machines, and have other machines to cough for them, and say to them that you can't get a breath. It's all comparative. Please go back to your doctor and work with them, and I wish you all the best for recovering.
 
Here are results of my muscle biopsy. I’ve got developing split hand, twitching all over, muscle atrophy in leg, chest and neck. Also have weakness, inability to cough strongly. My last EMG showed chronic denervation in legs and chest. Here is the report of the biopsy….

Tissue quality: Adequate.

Fiber size: A few mildly atrophic fibers are seen.

Fiber type: Atrophy is identified in both type 1 and type 2 fibers. No fiber type grouping is seen.

Nuclei: No significant increase in the number of internally nucleated fibers is seen. Exceedingly rare highly atrophic fibers that appear as nuclear clumps are identified. Fibers with internalized nuclei are noted at the myotendinous junction, a normal finding.

Fibers:
Target/targetoid structures: Not seen.
Necrotic sarcoplasm: Not seen.
Regeneration: Not seen.
Rimmed vacuoles: Not seen.
Other: - No abnormal intracytoplasmic structures -- such as rods
and cytoplasmic bodies -- are seen.- No ragged blue fiber is seen by SDH histochemistry.- No abnormally aggregated sarcoplasmic reactivity is seen by acid phosphatase histochemistry.- Histochemical reactions of myoadenylate deaminase are detected in the muscle.

Blood Vessels: No histological features of active vasculitis are seen.

Cellular response: No significant endomysial or perimysial inflammation is seen.

Interstitial tissue: No significant endomysial or perimysial fibrosis is seen. No extracellular amyloid deposition is seen with a thioflavin S stain.

Other: No significant sarcolemmal staining for HLA-A,B,C is seen with an immunohistochemical preparation.Based on immunohistochemical staining, no specific protein deficiency is seen for dystrophin, a-sarcoglycan, merosin dysferlin, caveolin-3, or a-dystroglycan. No significant upregulation of utrophin is seen.


DIAGNOSIS(ES):
Muscle, right thigh, biopsy:
Skeletal muscle with mild myofib
er atrophy, nonspecific. (See comment.)

COMMENT:
This skeletal muscle biopsy reveals a few scattered atrophic myofibers distributed in a non-specific pattern. No active myonecrosis, regeneration, or significant inflammation is seen. No vasculitis or amyloidosis is seen. The overall findings from the sampled material are mild and non-specific, and are overall insufficient to independently establish the diagnosis of primary myopathy.
 
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