Worsening symptoms still no follow up or diagnosis of what type of skeletal myopathy, or possible ALS.

[marygrace]

So it’s been five months since my last post and since then I have an elevated glycine of 458 an elevated Taurine level 93, as well as a 2nd muscle biopsy. Symptoms working with Nausea and close to 30 lb weight loss, I have added my lab work in my most recent EMG and pathology reports from February 2025 and February 2021. I would appreciate any kind of help. I’ve been diagnosed with skeletal myopathy and I was sent to Johns Hopkins to find out for possible ALS and I was told casually in the hallway I don’t have ALS, prior to any labs coming back or ability to review my EMG or my pathology slides from University of Washington. I don’t know how they can say that when they didn’t even have my previous results or what they ordered at the appointment this past May 8. Please let me know what you think.

 

[Nikki J]

Your other attachments were removed for your protection as they showed your full name. You may repost after obscuring that if you wish

Who said possible ALS? I see no indication of it in your emg and you state someone told you you did not have it? With electronic medical records even without a formal release providers can often see results and notes from other institutions so if they read notes or saw something else in your record that may have been the basis. I have been seen in three separate hospital systems and they all can see my records because they use the most common electronic record system

 

[lgelb]

I would expect Hopkins to take the tests they ordered, with the exam and your UW data, and reconfirm or revise the myopathy dx, but that has nothing to do with ALS.

True hyperglycinemia can have neurologic implications, though if it's not genetic sometimes it can be addressed with B complex supplementation/dietary changes. Your taurine is barely out of normal range, so I wouldn't worry about that.

All in all, seems like you're in the wrong place here, which is excellent.

 

[marygrace]

My neurologist and neurosurgeon referred me for “possible als”, also noting I definitely have skeletal muscle myopathy. The elevated amino acid is seen in ALS (Glycine) as well to note, I do have scoliosis 37* and 17* lumbar and thoracic spine as well as cervical spine listhesis 3mm. And an 3 mm vestibular neuroma, and as we all know, an EMG alone, standing alone, doesn’t confirm or rule out ALS, otherwise it would be so easy to diagnose. I am a nurse of over 40 years and worked for one of the biggest insurance companies in the country , I know the system inside and out. Thanks

 

[lgelb]

I am not sure how your scoliosis and vestibular neuroma play into any differential of ALS vs. myopathy, but the latter two are generally distinguishable via EMG and clinical exam/history, as I am sure you know.

ALS is pretty straightforward in terms of diagnostic criteria, which include specific abnormalities in multiple regions on EMG. Testing the sensitivity and specificity of new criteria is a systematic process, that generated the Gold Coast criteria that include EMGs. Myopathy is a non-specific diagnosis, has many possible causes, from alcoholism to endocrine and infectious disorders, and can be subclinical for life. As an umbrella description of primary muscular dysfunction rather than muscles that motor neurons can't control any more, it's part of the ruleouts for ALS but certainly not the only one.

You mention issues with swallowing and choking, so I would presume you have had swallowing studies and/or PFTs if there is clinical concern. Have you had to modify your diet?

The glycine connection is one of those "sometimes correlated, direction of causality not established" things and it is hard to see that as a leading indicator, especially if other data argue against ALS as appears to be the case. But as Nikki suggested, if you care to share your latest EMG, we could perhaps be more helpful.