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Blythe

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"Interesting case", "atypical presentation", no official diagnosis.

Good afternoon, and greetings. 32 year old fit female labeled as diagnostic mystery.

10 months ago--twitching all over body. Intense for 2 months, then left side predominated. Severe occipital headache, neck pain, pain in area of upper thoracic spine. Saw GP who ordered brain CT and EMG, both negative. Prescribed NSAID and muscle relaxer. No improvemet.

6 months after this, decreased dexterity in left hand, causing significant problems at work. Cramps and soreness in left leg, left hand, left arm. Progressive difficulty swallowing solids, no dysarthria. Muscles burned with mild exertion. No numbness, tingling, nerve pain, or other sensory issues. No previous health history.

Saw GP, who noted decreased strength (relative to right side) in left hand and left foot. Severely depressed or absent reflexes in all areas tested. He was very concerned, referred me to neurologist. No availability in my area for 4 months or more, so I self-referred to Mayo Clinic in Rochester and scheduled a week to be up there. They got me in quick. Let me say, that place is a very well-oiled machine. Saw senior neurologist on Monday who performed one-hour exam, ordered EMG/NCV, 6 pages of bloodwork, EEG, MRI of brain, cervical and thoracic spine, and other tests "if needed". Swallowing evaluation with SLP and ENT. All performed in 1 week, saw him Friday for followup. Spent an hour going over all results with me. EMG showed decreased recruitment in both left limbs, fasics, and insertional activity. No denervation or other signs. MRIs clean. EEG clean. Weakness in left thumb, left pinky (could fully extend both but not against resistance). Weakness in left big toe. Moderate atrophy of first interosseus, medial forearm, mild atrophy of thenar, mild atrophy of medial foot muscles. Marked weakness of laryngeal muscles without tongue involvement.

Summary--"you are a very interesting case. You show objective signs of weakness and LMN disease pathology with no UMN signs whatsoever. Clinical presentation, marked asymmetry, imaging and negative serology studies rule out MS, GBS, MG, and myositis. EMG rules out myopathy, nerve entrapment but is not typical of a neuropathy either. My assessment is that you have a motor neuron disease but I cannot classify it. Doesnt look like PLS or PMA. Follow up with a neurologist at home in 3 months. If you develop UMN signs, speech problems or more weakness before then you probably have ALS."

What he said next bothered me: "ALS is a definite possibility but you don't meet the criteria yet. If you do have it, why would you want to know? We can't do anything about it.".

Got home and made apt with neuromuscular clinic for October 2018, MND specialist. Saw GP again a few months later due to worsening muscle cramps, spasms, breathlessness, and persistent localized itching of lower rib (very strange). He looked me over again and noted left scapular winging, flaring of the left rib cage with atrophy of the left EO and left SA. He had another member of the practice come in, who stated that he had never seen MND present this way, but had no idea what I have. I left with no answers, except "wait for your apt in October, come back if breathlessness worsens and see if they can make accommodations for your left hand at work".

I know that no one here is a neurologist, but your personal experiences with this horrible disease are invaluable.

Did anyone here start out with LMN signs and develop UMNs later? Stories of atypical presentations?
Thank you very much for your time and willingness to share.
 

Atsugi

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Re: "Interesting case", "atypical presentation", no official diagnosis.

Tough presentation. But you wrote things that pointed AWAY from ALS: Lots of pain, burning, soreness.

Remember that pain, burning, weak feelings, exhaustion, etc, are all signs of an "overworked" muscle. But ALS is a brain disease that prevents the muscles from working, so they don't get overworked, either.



When Mayo said "if you develop UMN signs, then...ALS" that was clinically correct but, however, it's a big IF. Although there's no diagnosis, there's no reason to think ALS. And doc is right to say there is nothing to do about ALS, except buy life insurance "no questions asked."


Regarding swallowing: In the beginning of ALS, it's the fine liquids that are a problem, not the solid foods.


All that chest stuff was very NON-ALS. Possibly anxiety manifesting physically?


You're doing the right thing by following up with only the best doctors. Maybe get a sooner appointment in another city?



I welcome you to continue the discussion here, because, as your doctors noted, you're "interesting," unfortunately.
 

lgelb

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Re: "Interesting case", "atypical presentation", no official diagnosis.

Many PALS start LMN only and progress to UMN. What's unusual about your case is evidently your EMG doesn't even reflect the LMN patterns that would suggest MND.

But your presentation may be more suggestive of something like neurologic amyotrophy, which has both genetic and sporadic forms. Of course, none of us can diagnose from afar, but certainly ALS is not the only possibility. There are also systemic illnesses and malignancies that are associated with some of your issues. Did you have a chest X-ray? Lung function testing? Were you screened for a connective tissue disorder?

Do you have a copy of the EMG report that you could scrub and post?

You never had polio, right?
 

KarenNWendyn

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Re: "Interesting case", "atypical presentation", no official diagnosis.

Blythe, I’m sorry you find yourself here with documented muscle weakness, EMG abnormalities, and yet still in diagnostic limbo land. Clearly something is going on.

Against ALS is the “depressed or absent reflexes in all areas tested”. Also the rather widespread presentation. ALS typically starts in one area and spreads. Neuromuscular specialists are also hesitant to confirm an ALS diagnosis until they find definite evidence of upper and lower motor neuron abnormalities in at least 3 spinal segment regions on physical exam + EMG. Spinal segments include the bulbar, cervical, thoracic, and lumbar regions.

The frustration is compounded by the fact that ALS (and other motor neuron diseases) are evolving processes. I use the analogy of the old Polaroid cameras (probably these were way before your time). The pictures that came out of these cameras were initially very blurred and unrecognizable but would develop before your eyes and eventually become obvious. So it is also with MND.

A year ago I had weakness in lower legs and to a lesser degree in hands but with brisk reflexes and no other upper motor neuron signs. My EMG showed denervation and reinnervation, and my neurologist felt I had a MND but wanted to watch it evolve over time to further categorize it and be certain of the diagnosis. In my case, 4-5 months later, there was enough evidence of progression that he was able to confirm ALS. :-(.
He told me that even in PMA, many of these cases eventually develop UMN signs over time and are eventually reclassified as ALS.

So my point is that with evolving disorders, sometimes monitoring them over time is part of what is needed to establish the diagnosis. It is extremely frustrating, but that’s how it goes. Occasionally (fingers crossed), people turn out to have other systemic conditions or other neurological conditions or a very slowly progressing motor neuron disease.

If you can post a copy of your actual EMG results (specifically the summary and conclusions that typically is at the end of the report) that would also be helpful.
 
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