Possible bulbar onset?

[AudibleEthics]

Good afternoon. I’m hoping some of ya’ll could help me with this. I am a 32 year old male.

Back in early July, following the near death experience of my newborn child, I developed frequent all over body muscle twitching and calf cramps. The cramps were so severe, I went to the ER for them. They did a full work up and determined I didn’t have any clots or vascular issues but my potassium was a little low. They gave me some potassium tablets and which allowed it to come back up, but the cramps and the twitching didn’t go away. I followed up with a neurologist in august who did an EMG of my legs and left arm which came out normal.

I did test positive for the hemochromatosis gene and my ferritin was quite elevated but my iron and iron sat% were in normal limits. I received a hemochromatosis diagnosis, but the oncologist seemed to be perplexed by my symptoms.

Shortly after that (still in august), I started having some problems swallowing mucus. It was as if my throat would just give out halfway through a swallow and my larynx would click when this occurred. I saw an ENT and he prescribed protonix and Flonase. It didn’t help.

Now fast forward to October, I’m still having all of the same issues but now my right arm and right leg are cramping and stiff constantly. My right arm feels weak and is extremely stiff. I’m still having some issues with swallowing but allergy medicine is helping keep my throat dry which is a relief actually. I’m still able to swallow foods and liquids pretty well, but some foods give me more trouble than others. My speech is also pretty good, although at times it’s hard to speak because my tongue gets sore.

What’s concerning me is the stiffness in my right arm, specifically the wrist, the forearm, my fingers , and right shoulder. It just feels tight and achy. I still have good grip though but I feel weak, as if I can’t hold a position for very long. I’m also losing muscle mass bilaterally it seems. I’m keeping weight on, but it’s all fat.

Can anybody relate to this type of onset? I’m going to follow up with my neurologist, but I feel like nothing has been clear cut to this point. I’ve had a clean brain and lumbar spine MRI, Lyme was negative, bloodwork (other than ferritin) was in normal limits, negative for myasthenia gravis, negative ANA, TSH in normal limits. The list of things that could be happening to me is getting smaller and smaller and I fear the worst. Could this be a type of bulbar where the Upper motor neurons were the first to go and that’s why I’m achy, stiff and crampy all over? Especially on one side of the body?

I’m hoping these are just symptoms related to my hemochromatosis. Does anybody relate?

 

[KimT]

Trouble with upper motor neurons would cause brisk reflexes and spasticity. It doesn't refer to your upper body. It refers to neurons in your brain. Maybe it is something systemic. Did you have Covid or some other virus in the past year?

I think following up with your neurologist, if it's already scheduled, then going back to your primary care is the correct thing to do.

 

[AudibleEthics]

right, so I guess my question is, have you heard of people starting with spasticity before weakness?

 

[Nikki J]

Does your clinical exam show one sided spasticity and abnormal weakness? Spasticity is a clinical finding not what you feel. And it can have many many more common causes

 

[AudibleEthics]

No clinical finding of spasticity at this time. Just a lot of aches and pains in my extremities. The bottom of my foot hurts a lot when I use my calf muscle. I also get really sore really easily. The problems are primarily on one side of my body. (The right). Again, no clinical weakness though.

 

[lgelb]

Whenever you have soreness on one side, it's good to look at how you sleep (you can video, check your mattress/pillow, etc.), work, lounge, drive. And pick up/hold your child -- congrats!

If the HC dx is iffy, I would get a second hematology opinion. Deranged iron/blood components can do lots of things you don't want to happen.

 

[AudibleEthics]

A couple other things since I last posted. Swallowing seems to be getting more and more difficult, especially in the morning. When I look inside my mouth, my soft palate seems to be low and my uvula is touching my tongue when at rest. I constantly feel like I’m drowning in mucus and saliva in the back of my throat and my muscle cramps are back with a vengeance. I have a bulbar EMG scheduled for next Wednesday so will update everyone after that.

 

[AudibleEthics]

Update: EMG came back abnormal. Showed +1 polyphasic changes in my right arm. No other findings. MRI clean. I guess time will tell. No diagnosis at this time. This is the most frustrating diagnostic process ever. Doc says this still doesn’t meet the criteria for an als diagnosis and so the plan is to wait 3 months and then follow up, even though my swallowing is getting worse. I’ll keep everyone updated as this continues.

 

[lgelb]

Again, I would consider a second heme opinion just to be sure something systemic isn't being missed.
I would consider seeing an ENT as well.
Clean EMG and MRI are really good things, so seems like a good time to pursue possible explanations outside neurology.

 

[AudibleEthics]

32M. I’m just curious, how many of ya’ll were medically gaslit for months until you reached an als diagnosis? So far my emg’s have been mostly clean (the last one showed polyphasic changes on my right arm), and I’m getting worse and worse with my swallowing. I’m having nasal regurgitation, difficulty (sometimes impossible) swallowing mucus, brisk deep tendon reflexes, fasciculations everywhere, aches in my arms and hands, subtle weakness in my right arm and right glute, and I’m experiencing fatigue, weight loss, muscle loss on my right side and muscle stiffness on my right side.

Doc says it’s benign fasciculation cramp syndrome but that doesn’t explain the swallowing or the muscle loss. I’m exhausted from all of these appointments, but I keep progressing and getting worse. Curious if anybody else has had a similar experience? I feel like eventually something is going to show up on these tests that make these neurologists think, “hm, maybe something isn’t right.”

 

[Clearwater AL]

So far your EMGs have been mostly clean. Your doctor says
it’s Benign Fasciculation cramp Syndrome. BFS.

You feel like eventually something is going to show up on these
tests that make these neurologists think.

Yes, if you keep pursuing more testing. It’s apparent the Neuros
do not see ALS. You’ve got a diagnosis of BFS. If you persist
to question them you may not be happy with what they say.

They are highly trained, highly educated, extremely observant
(while you visit with them) and you are not a Neuro.

Finally, being just 32 years old… ALS is a rare disease and it’s
more rare for your age. Maybe ask for some help for Health
Anxiety.

 

[lgelb]

It's not "gaslighting" if they are not mistaken in their conclusions. Here, the conclusion seems to be benign cramps, bolstered by clinical exams and the EMG findings or lack thereof.

I advised a second heme opinion due to your history, and an ENT consult to surface anything else treatable or of concern. You mention neither but are still doubling down on the notion that ALS is being missed. And your account of your issues has again shifted. The mind is very powerful and can present new manifestations as previous ones recede from awareness and even memory.

This progression of posts and descriptions continues to support health anxiety (treatable and, like Al, I suggest you look into that). But again, I'm not ruling out physical issues that require clinical exams for due consideration, so I hope that you seek those out as well.

Of note, anxiety can certainly affect perceived dysphagia and your fitness/diet/sleep, which in turn can affect musculature in ways that your mind then perceives as unprecedented.

The question that you raise is pointless and any answer we could provide regarding legitimate diagnostic delay would only feed your anxiety and concern. So I'm closing this thread, but encourage you to reread it when you are tempted to give into the notion that you have undiagnosed ALS.