Dysarthria / Dysphagia, 35 year old male pt. 2

[stacey88]

Hi everyone,

Sorry to create another thread, but my other one here (Dysarthria / Dysphagia, 35 year old male) became inactive, I believe, so I can't post an update there.

My husband's journey for a diagnosis for the issues he has been experiencing has continued, with few answers until yesterday. He had another EMG and the doctor conducting the EMG wrote in his notes that the findings are suggestive of motor neuron disease. This is my husband's 3rd EMG since December, his symptoms started last summer with intermittent slow, sometimes slurred speech.

Anyways, I know people on this forum have seen many EMGs before, and we wanted to post his results in the event that there are any questions we should be asking his main neurologist when he follows up after reviewing the EMG neurologist's notes / speaking with him, or if these look like fairly standard results (if standard results exist?) for an MND/ALS diagnosis.

Thanks so much for your help through this challenging process. Please see attached for screenshots.

 

[AnxiousStatsGuy]

I hadn't seen your first thread so just read through it. I'm so sorry you and your husband are going through this.

I'm no expert but in my opinion this EMG progression makes sense given a more slowly progressive (as is more normal in younger pts) bulbar onset ALS, especially if it was UMN-dominant earlier on.

 

[lgelb]

The absence of IA, PSWs and fibs gives me pause. Some of these signs of denervation is typical in ALS, even with the limited fasciculation potentials seen (their absence even in the genioglossus, the most reliable of the bulbar muscles they tested, is notable given his tongue atrophy and swallowing/speech issues).

You said he had an MRI. Did it include the cervical spine? If not, I'd ask about that.

Given his elevated immune markers and the partial response to Mestinon, I'd also ask if further testing to differentiate a potential NMJ disorder (MG isn't the only one)/immune-mediated polyneuropathies would be appropriate.

I'd expect you'd want a second opinion, whatever you hear this week. I'm not saying he doesn't have ALS, just that it's not a slam dunk. Of course, if ALS or another MND is the final diagnosis, we will support you however we can.

 

[stacey88]

Hi @AnxiousStatsGuy and @lgelb — thank you both so much for taking the time to read and respond to my post.

Just wanted to make one point about @AnxiousStatsGuy's comment about UMN dominance in the beginning... that actually has been SO confusing! Since I wrote this in my other post there has been one detail to add — The upper vs. lower presentation has been confusing. The first ENT in November thought lower due to atrophy and fasciculations. First neurologist didn't really say. Second neurologist said upper. This most recent ALS specialist/neurologist said that there was evidence of lower motor neuron dysfunction (twitching, slow speech, facial weakness, atrophy) as well as upper motor neuron dysfunction, although he stated that this was “softer”.

— My husband was hospitalized in late March due to double vision and severe disorientation that lasted for three days. He was seen by several neurologists, none of whom noted that he had fasciculations on his tongue or anywhere else... even though he had a recent appointment in which they were noted (confusing!) — I think these are one of the main hallmark symptoms for LMN dominance, but let me know if that's incorrect. They ended up basically chalking up his symptoms to anxiety / stress and discharged him with anxiety medication. I didn't agree with that conclusion.

He has had 1-2 episodes like this since (although much less severe, lasting only an hour or so), and the double vision has stuck around. Because of this I've been thinking something autoimmune like MG is happening, but this EMG according to the neurologist who conducted it didn't show it...

As for the cervical MRI, he actually had one when he was hospitalized in March. I'm attaching the results. Seems like he maybe moved or something which impacted the quality of the scan?

 

[lgelb]

Yes, noting "significant artifact" categorizes this as an unreliable study.

The episodic nature of what you describe and features such as disorientation are both arguments against ALS, of course.

I don't see enough information here to conclude LMN or UMN dominance, if or even that this is motor neuron disease. So it seems premature to categorize signs that extend to diagnoses beyond MND. But if someone did present only with UMN signs, it would be unusual for LMN damage to emerge in force over the first year.

To answer your question, LMN signs include weakness, areflexia, hypotonia, fibrillations, fasciculations, and muscular atrophy. Many of the cranial nerves, including some controlling the tongue, are LMNs.

UMN signs include weakness, hyperreflexia, hypertonia, spasticity, clonus, and a positive Babinski sign. Note weakness can be UMN or LMN-damage-related. Stroke, syrinx, other tumors and spine damage are some of the causes in adults, so that's why I asked about spine studies.

ALS can present with LMN signs only, and that is not unusual, but when it presents as UMN only, if it is MND, we call it PLS until/unless it proves itself otherwise.

 

[stacey88]

Thank you @lgelb — appreciate the information you've shared. Sounds like we have some questions to ask the neurologist when he follows up, and potentially seeing if another cervical MRI could be ordered. Again, thank you for the guidance!

 

[stacey88]

Hi everyone,

Just wanted to give you an update as we spoke with the neurologist we've been seeing on Friday.

He agreed that the EMG does not show a full blown MND or ALS diagnosis, however he said that because there is a reduction in motor units and recruitment, even if they are mild or subtle, that this is consistent with a neurogenic process — even though there is no detectable weakness or difference in my husband's arms and legs (again, all visible issues are with his speech / bulbar area). Because of this, he is referring to us to the ALS/MND neurologist at Yale - Uzma Usman. Not sure if anyone out there has had any experiences with her. He said that she would be best equipped to answer questions surrounding whether or not a cervical MRI, for example, is appropriate to redo.

So, still in limbo. Our next appointment will probably not be until next month with Dr. Usman, but will keep this thread updated.