Does this sound like ALS?

[mcs]

This website is a wonderful forum. I am so very impressed by the thoughtfulness and mindfulness of the contributors. And I am sending good thoughts to those who have ALS and those whose loved ones are diagnosed with it.

I would welcome any thoughts on the following situation. This concerns a 47-year-old male, historically in good health.

Spring 2023 – patient begin developing intermittent muscle twitches in different limbs (i.e., short-term twitches that last for a few minutes and tend to go away within a day or so).

Summer 2023 – at next primary care appointment, doctor orders some bloodwork to check B12 levels, etc – all normal.

Fall 2023 – patient develops a persistent twitch in left bicep that lasts more than a month

Nov. 2023 – patient sees a neurologist; neurologist recommends and performs an NCS/EMG of left arm and leg. EMG results are normal.

Winter/spring 2024 – patient continues experiencing intermittent muscle twitches

June/July 2024
-- patient develops two more persistent muscle twitches – one in the left hand, one in right foot. These last about 3-4 weeks.
-- separately, following on a preexisting orthopedic problem, patients learns that grip strength in both hands has declined ~15% over the prior year

July/August 2024 – patient begins experiencing some issues with the mouth/throat:
-- Coughing and more frequent throat-clearing while eating and drinking
-- tongue occasionally feels “tired” when eating
-- intermittent muscle twitches in the chin
-- subjectively sounds like a longstanding lisp has gotten worse, but family members haven’t noticed any change

August 2024 – patient had to see an ENT about an unrelated issues. During that appointment, the ENT examined throat for evidence of acid reflux but did not see any problems.

August 2024 – patient has another appt with neurologist, where muscle twitches, hand weakness, and throat/mouth issues are discussed. Neurologist recommends another EMG/NCS.

September 2024
-- neurologist performs a second NCS/EMG of left arm, right arm, and right leg. EMG results for those limbs are normal.
-- during the neuro exam, patient sticks out tongue and neurologist examines the tongue at rest within the mouth. But no EMG of throat/facial muscles, and no further physical exam of throat/mouth.

Late Sept/Oct 2024 – patient’s mouth/throat/swallowing issues get a bit worse
-- more prominent coughing while eating or drinking (even water). No choking sensation, but a cough develops during and after eating.
-- food/liquid/acid sometimes seems to migrate up into throat and mouth. (Food is not fully coming up, but can be tasted at the back of throat)
-- Seems to take more swallows to clear food from mouth.
-- Occasionally experience a tired feeling in jaw/mouth.
-- Separately, develop another persistent muscle twitch in left leg (calf muscle and thigh muscle). Patient also notices that left calf is smaller than right calf (but not experiencing weakness.)


Based on this fact pattern, does this sound like ALS? I.e., could it be early stages of the bulbar version of ALS?

The neurologist was confident there was no ALS based on the Sept. 2024 EMG results, but it’s unclear to me if that test would catch the bulbar version of the disease. (I could be wrong, but the recent muscle twitching in the left leg seems less concerning, given the EMG test of the other three limbs.)

Thank you for considering my question.

 

[lgelb]

No, it doesn't. If the twitches were ALS-related, damage would be clear on EMG, and an ALS EMG has signs of motor neuron damage even in areas that seem fine. I have never heard of bulbar onset being "missed" as you describe, and the lack of third-person-perceived speech changes also argues against that.

I would ask about getting a sleep study. Fragmented sleep often leads to jittery nerves, irritates the GI tracts, etc. And teeth grinding/mouth breathing can of course cause a sore/tired jaw and dry mouth.

 

[mcs]

Dear lgelb,

Thank you very much for the gift of your helpful insights (and your time). I deeply, deeply appreciate it.

I have been most concerned about the swallowing/eating issues -- especially after encountering a couple websites that listed early bulbar ALS symptoms that seemed to line up closely with my own.

In particular, I got the impression that coughing while eating = aspiration = high likelihood of neurological disease. But I am relieved to hear that there may be more benign explanations.

And it's also good to know that the normal EMG results do carry a lot of weight.

Thank you, too, for these follow-up suggestions. I great appreciate it.

Sincerely,
mcs