Dysarthria / Dysphagia, 35 year old male

[stacey88]

Hi there,

I’m posting here to make sure no stone is left unturned as we are attempting to figure out what underlying condition my husband has.

About 8 months ago, my husband started to have intermittent episodes of slow, slurred speech. These typically occurred when he was exhausted, super stressed, or (like many people) had been drinking. He began to feel like something was wrong, so went to his PCP for a physical. He then was referred to an ENT. The ENT noted loss of muscle on his tongue and in his records wrote that he may have lower motor neuron disease.

About a month later, we saw a neurologist. She ordered an MRI and EEG, both were normal. She referred him to a neuromuscular specialist, and his EMG and nerve conductivity test were normal. He completed bloodwork with this neurologist which all came back normal with the exception of an elevated creatinine kinase. Note that his grandmother had myasthenia gravis, but his antibody tests were negative.

We’re seeing another neuromuscular specialist in two weeks. In the meantime, he went to a voice clinic to see if they could provide any resources / tips to help speech while we figure out what’s underlying this. Instead they went through similar ENT testing along with a swallow study, where they noted some weakness at the front of his throat (he sometimes chokes on liquids).

My husband is otherwise very healthy - 35 year old male, athletic. He is a full-time musician (plays the trumpet), and this is impacting his playing.

The first neuromuscular specialist said we may simply have to repeat the EMG in a couple of months if it gets worse. We will see what this other neuromuscular specialist says in a couple of weeks.

I know no one can give us a diagnosis on this forum, but if there are questions you think we should be asking these providers or avenues we haven’t explored, I would love to get your advice.

Thank you for taking the time to read this post.

 

[Nikki J]

It sounds like you are seeing the appropriate people. We do have stickies on preparing for appointments. There is one at the top of this subforum called getting a diagnosis

I always write down my questions. I would also prepare a timeline perhaps with bullet points for the next doctor. Be concise. It is also helpful to give concrete examples of what he can not do such as exactly why it is impacting his playing. Using a hand example I can not turn my key in the lock of my front door is more useful than my hand is weak

It is good that you are planning to go with him. Make sure to take notes.

It is also helpful to think ahead. If you do not get a solid answer ask what is in the differential and how do we narrow it down?

Do let us know what the next doctor says

 

[stacey88]

Hi Nikki (and anyone else reading this),

Thanks so much for your advice. The other posts on preparing for appointments were helpful.

We had an appointment on February 28th with a doctor who typically sees patients with myasthenia gravis (which again my husband's grandmother had). He shared in our in-person appointment that he did not think this was MG as my husband does not have some of the hallmark symptoms of this disease (blurred vision, for example... although he has some others). He instead shared that he thought it was something with his upper motor neurons (this differs from the first ENT we saw, who thought it was lower). But he still wanted to run tests that were MG-related.

My husband had a CT scan of his chest for a thymoma, which was clear. He also did A LOT of bloodwork. Abnormal findings included:

- Vitamin B12 (919, normal range is 211 - 911)
- Free Kappa (2.04, normal range is 0.33 - 1.94) --> this was a part of a "Immunofixation (G,A,M) and Protein Electrophoresis, Serum" blood test
- Vascular Endothelial Growth Factor (VEGF) (172, normal range is 31 to 86)
- Ganglioside Gd1A Antibody (IgM), EIA (1:800, normal range is <1:800 titer) --> this was part of a "Ganglioside IgG/IgM Ab Panel (Asialo-GM1, GM1, GM2, GD1a, GD1b, GQ1b)"

The doctor was fairly dismissive of his results, which I thought was odd in particular because of the super high VEGF. It's hard for us to understand what it all means without guidance from a physician.

He also prescribed my husband Mestinon, a medication many people with MG are on. It has been a few weeks, so we are past the placebo effect, and it definitely helps my husband's speech.

Ultimately he said that wasn't enough to diagnose my husband with MG. He referred us to a neurologist who specializes in upper motor neuron disorders. We have that appointment on Monday.

Anyways, sharing this update to my original thread, and if anyone notices anything we should be asking about from what I shared, please let me know.

Thanks for letting me share our experience here.

PS no new symptoms to report.

 

[stacey88]

Hello again,

We met with a new neurologist who specializes in ALS on Monday. He gave my husband a working diagnosis of ALS based on what he saw in his strength and reflex testing, although he noted that he was early on.

He ordered some additional bloodwork and also a baseline pulmonary test and EKG. He also wanted to redo the EMG that my husband had gotten on December 21st, noting that he thought the EMG was "suspicious" and was surprised that nothing had shown up.

My husband got the EMG with one of the neurologists the above neurologist wanted him to do the EMG with. The EMG does not seem to show ALS as a conclusion (maybe I am missing something? it does point to some issues with his hand which was surprising. Note that they actually put the EMG needle in his tongue this time, which is the only area of his body that is noticeably impacted):

SUMMARY: The nerve conduction studies of the right arm and leg were normal. The right median, ulnar, radial, sural and superficial fibular sensory response amplitudes and conduction velocities were normal. The right median, ulnar, fibular and tibial motor response distal latencies, amplitudes and conduction velocities were normal. Repetitive nerve stimulation of the right ulnar, accessory and facial nerves did not reveal significant decrement at baseline and after 1 min exercise. Concentric needle examination of the right arm, leg, thoracic paraspinal and tongue muscles showed mild and chronic neurogenic changes in the right first dorsal interosseous, extensor digitorum triceps muscles with increased fasciculation in the first dorsal interosseous and vastus lateralis muscles and without ongoing denervation.

CONCLUSION: Abnormal study. The electrodiagnostic findings are suggestive of right mild and chronic C8 radiculopathy. There is insufficient evidence to support diffuse lower motor neuron degeneration. There is no obvious evidence of neuromuscular junction transmission defect based on the repetitive nerve stimulation test. There is no evidence of large fiber peripheral neuropathy or myopathy. Clinical correlation is recommended.

I've read several threads on here and other websites where it seems that at this point (after 10 months of symptoms, visible muscle atrophy on his tongue and tongue weakness) that something would show up on an EMG if it is ALS. Is that true?

We're obviously also waiting to hear from the neurologist to discuss, but thought I'd post here in the interim in the event that anyone sees this and has advice.

 

[Nikki J]

You are right that doesn’t look like a diagnostic emg. Bulbar can be tricky to diagnose especially if it is predominantly upper motor neuron which would be primarily noted on exam. With atrophy one would have expected a more definite emg true but I don’t think he is out of the woods yet. Do let us know what the doctor says

 

[stacey88]

Thank you Nikki. I appreciate your observations.

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”. He was fairly certain the EMG would clearly show ALS.

Will keep you posted...

 

[rmt]

This sounds similar to my husband's bulbar ALS presentation. He actually never had an abnormal EMG (which completely surprised every doctor he saw). But there were upper motor neuron signs, and eventually weakness. He didn't have a limb EMG after he started having limb involvement, so not sure what it might have shown at that point. He was diagnosed with ALS after all the tests because "there isn't anything else it could be".