Differentials

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byrneka

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Learn about ALS
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Hi all. I’m a 27F who has had shaky hands for quite a few months now. It started when I was hungry. Okay, cool, blood sugar! In February I started to notice the shaking more, I would notice it most days regardless of if I had eaten. I went through the typical stuff: increase hydration, cut caffeine, etc. By June it started to impact tasks like pouring water from a pitcher or putting a glass on a coaster, and it was present each day. Things like buttoning shirts are possible, but slow and require conscious effort. My grandfather has an essential tremor and I assumed it was that, but was due for a PCP visit anyway and brought it up. She wasn’t concerned until she checked my reflexes and I had severely hyper reflexes +3 beats of clonus in my bilateral ankles. She referred me to neurology, but told me her level of concern was low.

As soon as I saw my neurologist (via telehealth) he said “that’s not a tremor”, which I see now via YouTube is definitely true. It’s hard to describe the movements, but if I hold my hand out flat in front of me, my fingers move back and forth in tiny shaky motions. In the last few days, it’s gotten a lot worse on my right ring finger. He calls them “minipolymyoclonus”, but I’m not sure what that entails.

Since June, the shaking has worsened. The last week or so, my right leg has gotten pretty stiff, and it’s harder to move. I can’t go down the stairs at my normal speed or power walk through the city like normal.

I don’t have any significant medical history, and I have tried the basics such as increased hydration and cut caffeine. I don’t drink a lot or smoke at all. Nothing hurts, no tingling or sensation changes. Just the shaking and my leg not working as well.

My EMG was normal, which I thought was great, but was then told that that did not rule out UMN disease, and that those are my symptoms. So, I’m a bit concerned about that. This wouldn’t show up on the EMG, which makes sense. The progression, though mild and slow, worries me.

I figured that advice/thoughts here may tide me over until my next appointment with a movement specialist. I KNOW I am 27, and to have a disease like this is very rare. I get that. But watching the objective signs, I certainly know something real is going on. That’s why I’d like to see if anybody has differentials beyond a motor neuron issue that may make sense with my clinical picture. Thanks :)
 
Minipolymyoclonus would typically be associated with an abnormal EMG, so not sure what to make of that statement. There are many hereditary and sporadic motor syndromes, and we don't know if your grandfather's essential tremor is really that. So it is really too long a list to speculate. I'm sure you've read about the rare possibility of PLS as well.

Where are you going to see the neuromuscular specialist?

Best,
Laurie
 
Hi Laurie,
Thank you so much for your response. I know that the polyminimyoclonus thought is confusing with the EMG. I think the main takeaway is it’s a clonic/myoclonic movement, not a tremor. At least according to my general neuro.
I definitely know about the rarity of PLS, especially at my age. It would make more sense statistically to win the lottery 100 times. But then I try to think through specific differentials that line up as well, and come up empty.
The movement doctor is at Penn Medicine. It’s in mid-October, which feels so long from now!
All the best.
 
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