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KevinM

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Well, damn. My local neurologist, after two months of elimination tests, has now indicated likely NMD, with ALS being the most likely candidate.

He basically kicked the can down the road and referred me to Dr. Pulley at Jacksonville Shands. We see him in late April for a second EMG and opinion, but we harbor no illusion that his conclusion will be different.

I have no clinical weakness or other impairments at the moment, so the current diagnosis stops well short of a “definite” label without further evidence of progression. However, all the normal blood work, MRI, etc., along with 1) an abnormal EMG done in early March; 2) nonstop full body fasciculations that came on overnight in late January and started the whole ball rolling, and 3) muscle quivering/tightness/occasional spasms that have progressed, led to his opinion.

He’s more surprised than me. He sees about 3-4 cases a year, all of which have very obvious presentations by the time they come to him. I was very different, because I started the diagnosis process so early after my first symptom.

(Don’t swallow your collective tongues DIHALS’ers, but if you’re over 50 the sudden onset of full body twitches with unique characteristics can actually be a first symptom in some atypical cases).

A few personal details: my wonderful spouse of 27 years and I live in North Florida, as does our 25 year-old daughter. I just turned 62 and like so many here, have been a fit, active person my entire life. I am fortunate to have had a very fulfilling 30-year career in the nonprofit world of park and open space creation. So much for long term retirement planning...

Thank you for being here. I have learned a great deal over the past two months, and I have grown very fond of many of you through your posts. I’ll report back after the Shands visit.

Sorry for the long post. Brevity is not a strength. Kevin
 

patrick123

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Glad you found us Kevin we're a very supportive group here.
Patrick
 

KarenNWendyn

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Kevin, I’m sorry about the diagnosis too.

Was the neurologist who diagnosed you a neuromuscular disease specialist?

I’m glad you’re going for a second opinion because an absence of clinical weakness and impairment is not consistent with ALS. Total body fasciculations, especially without clinical weakness or muscle function failure, definitely points away from ALS. Your EMG would have to show characteristic acute and chronic denervation and reinnervation in at least three different spinal segments to even suggest the possibility of ALS, and then there would have to be demonstrable progression of weakness over time to confirm the diagnosis.

So let us know what the second opinion says. I hope it turns out to give you good news. I’m sorry for what you’re going through regardless.
 

KevinM

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Thanks Patrick. As Egon from the first Ghostbusters movie said after seeing the giant Stay Puft marshmallow man, “I am terrified beyond the capacity for rational thought.” Indeed.
 

KevinM

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Hi Karen. I have followed your story and posts with great admiration. I am a musician as well (master level acoustic finger style guitar) and can’t bear the thought of losing this ability, as you went through with your bassoon.

My neurologist was referred by my PCP primarily because he has experience with neuromuscular diseases. I hesitate to say he’s a specialist because there are so few cases in our town, and most of his patients come to him for stroke, neuropathy, etc. That is why he pointed me to Dr. Pulley.

Like my PCP, he initially suggested benign cramp/fasciculation syndrome, but his thinking has changed with the elimination of pretty much everything else and the specific characteristics of my fasciculations and associated cramping. In addition to the abnormal EMG (sharp waves in both calves, although it was a limited limb EMG/NCS of right leg, right arm, plus several muscles in back and spine), several aspects that appear unique to ALS fasciculations are now occurring that is contributing to his opinion: they are continuous (every 15-30 seconds) from head to toe whether active or at rest, and have progressed where now they are often accompanied my constant muscle quivers and mild cramping throughout the day: and they occur in two specific areas—the rectum (sphincter) and the eardrums—that is almost always associated with ALS. The other indicator is auditory, as I now have developed tinnitus and sound sensitivity in the right ear. I also have developed significant numbness and tingling in my limbs and buttocks. Sensory issues, but part of the overall picture.

I know that without weakness and progression an absolute diagnosis is not forthcoming. His feeling is that I began the diagnostic process so early (went to see PCP three days after sudden onset) that this is in the very early stage. Some peer reviewed literature indicates that in cases like this, the fasciculations May preceed weakness/atrophy by six months or more. We’ll see, I guess. Not a pleasant mental state during the waiting period. We (mostly my spouse and daughter) are holding on to some hope, but I’m already there, unfortunately. All the best, Kevin
 

KarenNWendyn

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Tinnitus and sound sensitivity, numbness and tingling are all sensory symptoms as you’ve noted, and further point away from ALS.

Your presentation is not at all suggestive of ALS. Please let us know what that second opinion reveals. I wish you the best.
 

Nikki J

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Hi
This thread was moved as you state told Likely not a firm diagnosis

Dr Pulley will most certainly sort this out for you and I hope for good news for you

Your sole emg finding was psws? Or was there something else? How were they in both calves if your emg was only right sided?

I can tell you here and elsewhere I have seen cases of psws alone and in combination with fibs that disappeared on follow up. I do believe you have much cause for hope.
 

Bestfriends14

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Hi Kevin,

I'm quite surprised at the preliminary diagnosis of ALS as all your symptoms point away from the disease,not to it. As Karen said, tinnitus and rectal twitch is not at all consistent with ALS (not sure where you got that from) and lack of clinical weakness further points away from the disease. People have abnormal EMGs all the time, but rarely because of ALS, so an abnormal EMG would not automatically point to ALS. ALS would be one of the last on a very long list of possible diagnoses.

Please update when you get your second EMG.
 

KevinM

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Thanks to everyone for replying. I certainly hope that you are right. More than you can imagine.

Taken individually, I agree that auditory symptoms, fasciculation/cramping, etc., could point to many different pathologies. I think it is the cumulative and increasing nature of these that went into his opinion, along with the two months of tests that eliminated any and all nutritional, metabolic, or skeletal disorders. That, coupled with EMG abnormalities, led to the conversation with my neuro where he decided that NMD was a likely remaining possibility, and since ALS is the most common of these, the discussion went there.

Nikki, as far as the EMG, although it was initially right leg/right arm, he saw left calf fasciculations and tested that as well. He also there was an abnormality in the right forearm (didn’t say if was on the EMG or NCS), but thought it was from carpal tunnel syndrome.

As far as rectal twitches, my neuro said that sphincter disfunction was a characteristic of ALS, but he didn’t elaborate further. When I also described the eardrum fasciculations, he said that was sometimes a characteristic of a neurological pathology. I’m sure it could be from many other things too, but again, the cumulative picture was the context of the talk.

I’ll let everyone know the results of the second opinion at the ALS clinic. April 25th is long time to wait...best, Kevin
 

KarenNWendyn

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KevinM

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Thanks Karen. Don’t know why he said sphincter dysfunction was sometimes a component of ALS. You and the other posters have given me a little more hope than I had after my meeting last week, where ALS was discussed as a possibility, I’ll know much more in a few weeks.

Thanks so much for weighing in. Kevin
 

affected

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Please post your EMGs here
 

KevinM

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Will do, Tillie. I have asked for hard copies of all tests to date in advance of the Shands visit (including the 3/7 EMG) and will post that once in hand. Thanks, Kevin
 

lgelb

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What some might call sphincter dysfunction generally manifests as constipation, urinary retention/urgency due to weak muscles in places other than the sphincter itself.

I agree with the others that ALS would not be high on my list based on what you have described.

Best,
Laurie
 

KevinM

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Thank you for weighing in Laurie. Your incredible knowledge and continued participation on this forum is so very beneficial.

I think my neuro was referencing what Karen’s link described, ie., that anal sphincter function in ALS patients is not “normal” per EMG results. I don’t believe he was equating dysfunction with incontinence, since as the study indicates the sphincter usually maintains enough resistence to prevent that.

I would love to hear any thoughts on what other, more common diseases might be a possibility, given the elimination of so much already. I asked that of my neurologist and other than benign cramp syndrome, he didn’t offer other alternatives that came anywhere close to the collection of my symptoms. Best, Kevin
 
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