Time Table For EMG Results

[Nikki J]

Do you have more text?The interpretation didn’t mention the emg. We do not need the tracings. The nerve conduction had a number of abnormalities which go along with your current diagnosis and point away from als. Your emg which is what matters in als just had a couple of minor niggles that don’t suggest als at all

 

[CatM]

There's one more file which didn't upload, for some reason.

 

[CatM]

Thanks for replying Nikki. I missed a section which is the EMG impression.

 

[lgelb]

Everything you have posted aligns. But if you have high ammonia levels, the treatment plan certainly isn't limited to any one drug -- it's the underlying cause that's treated, such as hepatic encephalopathy, which is implicated in slurred speech, altered sleep, etc. , and for which multiple meds can be used. And yes, if high enough long enough, that alone can damage your brain/cause death.

 

[CatM]

Liver and kidneys have been ruled out as causes of the hyperammonia. I've not been checked for urea cycle disorder as a cause. My insurance wont pay for the genetic test. Its to my understanding there IS a med for urea cycle disorder, if its that and I could tolerate the med.
Altered sleep is caused by choking on saliva during the night and is also now the result of not getting a good enough cough to cough fluid out of my lungs. Its worse at night. I keep waking to struggle to clear my lungs and bronchial tubes.

 

[CatM]

I cant take the meds to clear the ammonia from my blood, due to having CVID.

 

[lgelb]

It's true that genetic testing could determine whether there's an inbred error of metabolism that caused a UCD, but genetic tests are not necessary to determine the cause of your high ammonia, be that a UCD or something else. Lab work and possibly a liver biopsy can usually do that. Depending on the results, you might then see genetic testing approval since typically plans want other dx stuff done first.

And even while you are being worked up, you will see suggested dietary interventions/supplements mentioned in the same article. It's not "the one drug that cures it all."

Re sleep and breathing, have pulmonary function tests been done? Yes, if you need BiPAP, it usually helps breathing quite a bit.

Honestly, if your ammonia's been high for 5y and the cause is still undetermined, I'd find a new resource because understanding the cause obviously helps to hone in on the best treatment and the stakes can be high. Are you seeing people in Cincy?

And yes, studies have certainly linked muscle weakness with high ammonia. That could include muscles used in breathing. As you say, it's not clear whether the ammonia is linked to your issues, but knowing what is behind it would certainly be a big head start on that answer, and it should be addressed anyway.

 

[CatM]

I'd like to thank you, Igelb and Nikki, for caring enough to try to help me with your obvious expertise.
To answer your question Igelb, I've been to Ohio State Wexner Medical Center, but not cinci yet.
I need help traveling long distances now, due to the seizures.
I wasnt aware of those studies. That would explain the fatigue and muscle weakness. Does it result in muscle atrophy as well?

Yes, pulmonary function tests have been done, but not recently

I've been trying to limit protein levels in my food to try to keep serum ammonia levels on the lower end of high, in an attempt to control it. It usually runs 40-60 but has gotten in the 80's a few times.
I've had labs (liver panels) recently, as well as a liver biopsy years ago, but they were looking for cancer at that time. Would anything else have presented in the specimen, that they'd recognise as being a metabolic problem?
I understand and appreciate your explanation of the process to get the genetic testing, and will keep my upcoming appointment with gastro this week. Maybe gastro doc can help me get genetic testing.

 

[CatM]

Igelb, do they have to genetically check for UCD specifically?
I've had genetic testing before and they found mutated variants they couldnt identify.

 

[lgelb]

The labs to determine the cause of hyperammonemia are laid out here. I'd talk to the gastro about any you don't have results for.
Genetic testing to rule out UCDs, justified by some of the labs (blood, urine, possibly CSF) would normally follow. If you are talking about general OTC genetic tests, they are not so equipped.

Depending on findings, you might receive dialysis or amino acid supplement recommendations, since you say you can't use Ammonul.

Sarcopenia (the loss of muscle bulk/quality/strength) is often found with the kinds of liver and kidney disease that cause high ammonia. So again, depending on what labs were done when, that is a through line to consider even though you say they were ruled out. I would also ask about repeat PFTs if it's been a while, and, again, a sleep study.

 

[CatM]

Thanks so much, Igelb!
I did have a recent head CT, which showed no brain edema.
I'll discuss the page you provided the link for, with my doctors.
Thanks again!

 

[CatM]

Hi, just to update and ask a couple of questions...
I got my serum ammonia back and it was within range so, normal. I looked at my chart record and the last time it was checked, which was in Feburary of this year, it was 94.
One of my questions are, with the serum ammonia being in range, and these symptoms progressing, would it be logical to rule out hyperammonia as the cause?
The second question is, would my motor neuron diagnoses act like ALS?
My speech is getting even worse, and I can tell its because I dont have control of some of the muscles in my tongue and mouth. I get out of breath before I can finish sentences too, at times.
I just now woke up choking again, resulting from inability to swallow saliva while sleeping , and couldnt control the muscles of my throat and diaphram to cough out the fluid. I've been drooling worse as well. Even now, my tongue feels strange.
I've had the ultrasound of my.shoulder muscle which showed the areas are fluid. No obvious cysts or masses, which is good news. I dont need another cancer to deal with.
This is getting dang scary, I dont mind telling you.
So would motor neuron disease present in this fashion, with the loss of muscle control, as well as jerking? I can tell its my nerve pathways with the jerking because I have pain as well, at the points where they fired me up with the nerve conduction test
Apologies this post is so long.

 

[CatM]

Another question, have I been diagnosed with MND as the result of the EMG and nerve conduction test?

 

[lgelb]

I'm very confused. 94 is a high ammonia level and I would expect it to be investigated especially if it was high for several years, as discussed above. And it can cause muscle problems. So again, if it's not being addressed, I would go somewhere it can be.

You have not been diagnosed with an MND. Nothing you have said or linked suggests you have one. Again, not because I think you have an MND but for general health reasons, I would ask about a sleep study and updated PFTs. As to muscle atrophy, if your muscles are weak and you don't use them, that can cause disuse atrophy. But your tests do point to neuropathy and so I would also ask about a PT evaluation.

 

[CatM]

Thank you for responding, Igelb.
I use my muscles frequently. I'm the only caregiver for my mother, who is 97 with dementia.
As a matter of fact, I'm exhausted all the time. I can no longer care for her though, due to my own health limitations.

I asked if I do have MND, because my primary said "If in fact you do have MND", and she said it that just after the EMG results. Also, the 2nd neurologist I saw, diagnosed me as having an MND after he examined me.
He said he just didnt know which one I had yet. That was before the EMG. I'm trying to get another appointment with him.

Wouldnt my ammonia level have to be high at the time, to cause these muscle problems?