Mom dx ALS/PLS....need help!

[KarenNWendyn]

I just reread through your post and caught this statement:

I remember my mom saying her thyroid meds have been increased again, for the 3rd time this year.

They still don’t have her thyroid under control. Maybe it’s best if she saw an endocrinologist given her symptoms. I’ll bet that many of her symptoms will improve dramatically once this gets under better control. Elderly people are particularly sensitive to changes in thyroid levels.

 

[KimT]

I noticed her TSH spiked at about the time she started getting bad symptoms. That, alone, would cause exhaustion. Certainly Kaiser will let her go to an endocrinologist to get her thyroid under control and do more thorough testing besides TSH.

I would push very hard for a referral to a neurologist who specializes in motor neuron diseases.

 

[KellyR30]

She has had untreated (or undertreated) hypothyroidism over the past year, and it’s getting worse. Hypothyroidism of this degree absolutely can be associated with a myopathy and many of the symptoms you report. The good news is that it’s treatable. My question is why hasn’t she been treated? Someone is ordering this test and getting the results but is not appropriately managing it. Time for them to get on the ball. An internist should be able to manage this. If any of the parathyroid tests come back abnormal, then she should see an endocrinologist.

Thank you

I just reread through your post and caught this statement:



They still don’t have her thyroid under control. Maybe it’s best if she saw an endocrinologist given her symptoms. I’ll bet that many of her symptoms will improve dramatically once this gets under better control. Elderly people are particularly sensitive to changes in thyroid levels.

I noticed her TSH spiked at about the time she started getting bad symptoms. That, alone, would cause exhaustion. Certainly Kaiser will let her go to an endocrinologist to get her thyroid under control and do more thorough testing besides TSH.

I would push very hard for a referral to a neurologist who specializes in motor neuron diseases.

Good advice! she is seeing a motor neuron specialist Tuesday. We are going to her primary dr Monday and i am going to request a endocrinologist appt as well.
Her neurologist said thyroid cant cause these severe symptoms , but research and case studies show otherwise.

 

[KellyR30]

Sorry to hear about your mom. If you could post a copy of her EMG results with identifying information blacked out, that would be helpful to us in offering an opinion.

But we do recommend a second opinion from a neuromuscular disease specialist. At the very least, you need a physician you can talk to.

ALS is diagnosed based on finding a pattern of weakness in at least three spinal regions (bulbar, arms, legs, thoracic are examples of spinal regions) in combination with hyper or pathological reflexes and characteristic EMG abnormalities. EMG findings show evidence of widespread acute and chronic denervation and reinnervation. Diagnosis also requires ruling out conditions that can mimic ALS and finding evidence of disease progression. An experienced neuromuscular disease specialist is needed to put this all together.

Hi, i got a copy of her tests today. I will post it below. I’m more confused than ever after reading these studies, especially the muscle biopsy. It reads there’s an autoimmune and myopathic component.
Also her t3 and t8 were the two areas she couldn’t really move well from being in a fetal position facing a wall unclear how to move the way he described . I’ve attached the conclusion and comments from dr.
Let me know your thoughts

 

[KarenNWendyn]

Here’s what I find confusing— their summary reports “no impressive upper motor neuron signs”. But and EMG does not show upper motor neuron signs, just lower. Upper is determined by physical exam. But then he goes on to conclude this is most likely PLS evolving to ALS. Except if PLS were the case, there would be upper motor neuron signs. I would also expect more widespread abnormalities with ALS.

I don’t see a muscle biopsy report.

I would definitely pursue a second opinion from another neuromuscular specialist. Meanwhile, I recommend seeing an endocrinologist and getting the thyroid tuned up, because that could be contributing to some of the abnormalities. A good specialist needs to see the big picture, history, physical exam, lab results, EMG, and integrate it all together including the possible contribution of hypothyroidism.

Btw, most cases of hypothyroidism are autoimmune, and hypothyroidism can definitely cause a myopathy.

 

[KellyR30]

Biopsy report

The muscle biopsy has two separate parts. I’ll atrach them. The interesting thing is the second deposit came through recently and no one notified us. I’ve been researching the terms in the biopsy as she tested positive for mhc-1 and Dysferlin , both autoimmune usually. The terms in the first biopsy is littered with terms that are only inflammatory myopathy.

 

[KarenNWendyn]

The biopsy findings seem somewhat nonspecific, but again, a neuromuscular specialist will be your best bet in interpreting the results. I don’t think she has a primary inflammatory myopathy (e.g. polymyositis or dermatomyositis). I’m still thinking this could be due to the hypothyroidism.

 

[KellyR30]

The biopsy findings seem somewhat nonspecific, but again, a neuromuscular specialist will be your best bet in interpreting the results. I don’t think she has a primary inflammatory myopathy (e.g. polymyositis or dermatomyositis). I’m still thinking this could be due to the hypothyroidism.

We went to the neuromuscular dr this week and she said she feels it is Bulbar ALS (something about brisk reflexes in her knees) but that she needs to try a 6 week drug trial of myasthenia gravis medicine, due to symptoms and she said noticed her right eye has pitosos and is very droopy covering half her pupil, and she won’t give a als diagnosis until everything else is ruled out. She said that would be cruel. She also said her muscle biopsy part two has the mch-1 upregulation and inflammatory myopothys have to be ruled out. She’s sending my mom to an endocrinologist and a rheumatologist as she noticed her leg rash has spread to her sides and back. She said she has thrush all over her mouth so between the rash and thrush there’s definitely something autoimmune happening. Her thyroid is still not working properly either. She doesn’t know if their all related or separate issues. She also is getting a new muscle disease dr they hired from UCLA to look at her in two weeks since he just finished residency and may know newer things than she does. So we’re in limbo , waiting, but i appreciate that she is being thourough.

 

[KellyR30]

The biopsy findings seem somewhat nonspecific, but again, a neuromuscular specialist will be your best bet in interpreting the results. I don’t think she has a primary inflammatory myopathy (e.g. polymyositis or dermatomyositis). I’m still thinking this could be due to the hypothyroidism.

Hi, i wanted to let you know this week we saw the new young UCLA muscle disease neurologist and he said my mom does not have als! In her rheumatologist testing there was a positive anti cn-a1 an antibody test which is a inflammatory myopothy. They think it’s caused from her statin (Lipitor). Her weakness is bilateral/symmetrical, her EMGs were normal he said. Started high dose steroids for two months as 4/5 are treatable with steroids (IBM isn’t, so we hope she has one of the treatable ones. )
Have you ever heard of being misdiagnosed with this?

 

[KarenNWendyn]

Glad it’s not ALS! Thanks for the followup. Many of the inflammatory myopathies are associated with auto-antibodies. I am not familiar with cn-a1.

Myopathies are among diseases that can mimic ALS. But as you said, symmetrical bilateral weakness is more characteristic of myopathy, and the EMG picture is different.

The treatment plan sounds appropriate. I assume she’s off the statin too. Best of luck for improvement!