Old 01-10-2018, 10:53 PM #1 (permalink)
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Default NEGATIVE genetics results?

My wife is in the area of probable ALS.

Her first symptoms were late 2015 and 2.5 years later she can still walk with assistance, speak, swallow, and breathe nornally.

She was on lunasin for a month and seemed to improve fine motor movement and in the past responded well to high dose prednisone. At night she sleeps on 4 ice packs along her spine which alleviate twitching and spasms 100%. Next month she will be getting on Radicava.

Her most recent genetics test came back NEGATIVE for all the 20 or so most common genetic markers.

Why on earth is her neurologist still firm on ALS diagnosis?

Has anyone else received this type of result, and was the outlook different?
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Old 01-10-2018, 11:36 PM #2 (permalink)
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Default Re: NEGATIVE genetics results?

So, she doesn't have familial ALS?

Others will chime in with more knowledge (Nikki?) but it sounds like sporadic ALS which accounts for ~90% of ALS.

What were the results of her EMG?
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Old 01-10-2018, 11:51 PM #3 (permalink)
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Default Re: NEGATIVE genetics results?

To clarify, her neurologist doesn't think it's sporadic but familial due to slow progression and family history of autoimmune disorders.
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Old 01-10-2018, 11:58 PM #4 (permalink)
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Default Re: NEGATIVE genetics results?

Keyword being "thinks" .

I'd suspect he may alter his thinking based on the genetic tests.

I'm slow progressing, but there's no family history of ALS.

But back to my previous statement, sounds like sporadic.
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Old 01-10-2018, 11:59 PM #5 (permalink)
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Default Re: NEGATIVE genetics results?

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Originally Posted by GregK View Post
What were the results of her EMG?
She had 3 EMGs, the last one a year ago.
1st EMG: ALS, but also said multilevel radiculopathy could not be ruled out.
2nd EMG: multilevel polyneuropathy
3rd EMG: possible ALS or multilevel radiculopathy (NOT a very good tiebreaker)

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Old 01-11-2018, 12:08 AM #6 (permalink)
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Default Re: NEGATIVE genetics results?

Results are many, I gave you diagnostic conclusions.
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Old 01-11-2018, 12:14 AM #7 (permalink)
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Default Re: NEGATIVE genetics results?

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Results are many, I gave you diagnostic conclusions.
ya, dude, we posted at the same time.

No big mystery here.

1) It's sporadic ALS (highly likely based on genetic testing)
2) It's a hitherto unknown familial ALS gene (unlikely)
3) It's not ALS at all (again unlikely, but more likely than #2)

good luck!
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Old 01-11-2018, 12:29 AM #8 (permalink)
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Default Re: NEGATIVE genetics results?

I'm a little confused. I didn't see solid evidence of ALS. In fact, apparently she has improved due to certain meds. ALS isn't known to improve. Also, those EMG conclusions read to me like 1) ALS, but maybe not. 2) something else. 3) something else.

What muscle on her body is significantly weak?
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Old 01-11-2018, 12:37 AM #9 (permalink)
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Default Re: NEGATIVE genetics results?

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In fact, apparently she has improved due to certain meds. ALS isn't known to improve.
Actually some pALS report that they respond to Lunasin.
And the Prednisone may have reduced inflammation due to the nerve pinch issue.

The two issues are not mutually exclusive.
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Old 01-11-2018, 12:55 AM #10 (permalink)
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Default Re: NEGATIVE genetics results?

#2. is more likely than #1.

I apologize for not mentioning this:

a) we lost our firstborn to genetic disorder, b) 2nd born has genetic abnormality linked to autism, dementia, and epilepsy c) wife lost an aunt to neuromuscular disease back in the 80s d) wife is one of 4 siblings all of whom received lumbar surgeries, 3 of which have chronic inflammation thus there is a genetic link to bad spines e)clinical presentation is atypical (e.g. absent plantar/babinski reflex, bilateral weakness/progression, abnormal Nerve Conduction results, etc) f)3 EMG's with differential

All of the above are reasons the neurologist (at an ALS clinic) suggested familial over sporadic: and is now testing via whole exome sequencing with expectations of ultra-rare ALS variant or one of the lesser-common neuromuscular disorders/MND.

I lost my own mother a few months ago to sporadic ALS: it's cut and dry in terms of progression and diagnosis whether fast or slow.
But not to digress, I appreciate your response, but it's just an opinion backed by little to nothing. Trust us, we've heard it all.

If anyone has gone through genetic testing and received negative results, please message me.
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Old 01-11-2018, 01:16 AM #11 (permalink)
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Default Re: NEGATIVE genetics results?

Quote:
Originally Posted by Atsugi View Post
I'm a little confused. I didn't see solid evidence of ALS. In fact, apparently she has improved due to certain meds. ALS isn't known to improve. Also, those EMG conclusions read to me like 1) ALS, but maybe not. 2) something else. 3) something else.

What muscle on her body is significantly weak?
A year ago, she got on 60mg prednisone and went from using a walker to doing laps around walmart with no assistance. It helped with inflammation but mostly she gained significant strength. She stopped due to weight gain and getting the moon face, which are not good reasons.

Her walk became worse but she stopped using the walker mid-year, and just walks carefully now.

Her muscle atrophy is similar to a patient who doesn't get out of bed much..everything works, just weaker. No loss of function in any area.
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Old 01-11-2018, 01:32 AM #12 (permalink)
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Default Re: NEGATIVE genetics results?

I'm sure you've heard it all, David, but you posted here, so you can read what we have to say and take it for what it is. We're a feisty group, and asking us to confine ourselves to a single question isn't likely to succeed. Nor should it, truthfully.

Very sorry to hear about the loss of your first child and illness of your second, and the family history you mention, but taken together, they do not present a convincing argument that your wife's illness is somehow ipso facto genetic. As you know, lumbar surgery is very common for marketing rather than purely clinical reasons as PT is more often recommended today, inflammation is a non-specific finding, etc. There's no convincing history of MND -- or a coherent disease pedigree -- in what you wrote.

I would be more concerned that the improvement with prednisone and slow progression suggest the possibility of an inflammatory myopathy or similar syndrome, that could be treatable (though likely less definitively as time passes), and would definitely seek a second opinion at a neuromuscular center at the earliest opportunity.

Best,
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Old 01-11-2018, 02:44 AM #13 (permalink)
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Default Re: NEGATIVE genetics results?

<removed quoted text--LG>

You're absolutely right Laurie, which is exactly why I stay off this site and discourage her from ever visiting. In fact after 2 years membership this is the first, and probably the last post. There's just no room for a specific question to render a specific answer, but I thought I could ask.

As far as that pedigree goes, we'll know in 8 weeks. This was a group test.

For the record, I was never a fan of genetics testing and it's a waste of time. My intentions were to find a patient with a similar story, find out what happened, what did they do, etc. I am a clinical pharmacist by trade and our philosophy is to treat based on peer-reviewed evidence-based literature, not diagnose based on "opinions". It's quite unfortunate to serve the community to raise health-literacy, knowing that your spouse and mother have MND, and you can't make a difference at home. But I have. And it gives us hope that she's not the same as my mother, not to mention qualifying for radicava, therapy at TIRR, benefiting even marginally from alternative therapy, with NurOWN and Crispr around the corner. We're very blessed and very lucky. I wish you all the best.

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Old 01-11-2018, 08:07 AM #14 (permalink)
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Default Re: NEGATIVE genetics results?

David, my genetic results were negative, however my neuro didn't suspect familial ALS for me due to my presentation. My progression is very slow, but I have very classic ALS signs with a strong mix of upper and lower motor neuron signs. My son has autism and ID and he carries a variant on CACNA1C. Is that your child's variant? It is associated with autism, bipolar, schitzophrenia, as well as two genetic syndromes. My son's geneticist, a highly respected geneticist at Mass General Hospital, does not believe my ALS is related to our son's genetic results.
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Old 01-11-2018, 08:48 AM #15 (permalink)
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Default Re: NEGATIVE genetics results?

This comment is mostly for future readers.

First not all genetic glitches show up on standard sequencing. Mine does not. It requires a special test. There are certainly going to be more in that category than there already are

Currently about 30 percent of people with unarguable FALS ( multiple relatives with classic ALS in a Mendelian inheritance pattern) have no detectable genetic defect. Until C9 orf72 was discovered in 2011 that percentage was much higher 60-70 percent. This is the main reason why genetic testing is discouraged in asymptomatic FALS family members without a known mutation. A negative test does not reassure.

There are certainly fast and slow progressing SALS cases and there are fast and slow FALS. As is commonly said, ALS is not one disease but many

Last edited by Nikki J : 01-11-2018 at 12:09 PM
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