Question about familial markers

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Jomeha

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CALS
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I'm asking about my husband. His mother passed in 1997 at the age of 53 from ALS. We have no contact with her mother's side so don't know if there were any other cases of ALS before her. She has 3 sisters, all now in their late 70's or 80's without any symptoms.
About 9 months ago he started with soreness in his shoulders that progressed into weakness in his left arm and hand; and then into his right side. It now seems to be affecting his legs, and sending "shocks" into his buttocks. He also has a noticeable effect to his speech and swallowing, which started late February and has obviously progressed. He has been complaining of major fatigue for at least 6 months. (Primary doctor found his vitamin D to be significantly low).

We saw a doctor, who specializes in ALS, on March 13 who noted some weakness in his left hand and hyperreactivity. She also said she can see facilitations in his left shoulder. EMG was performed on March 17. I don't understand the test fully. Part of it was clean and part showed an effect of his left arm. She said she would give him a probable ALS diagnosis, in part because of his mother's history. Bloodwork was done that showed his B-12 on the low side, and I guess nothing else noteworthy. I do know they tested for copper and thyroid but am not sure what, if anything, else.

They also took blood for genetic markers. Today we got results that the markers are negative, which she says surprised her. She mentions him possibly being able to get into other studies (we had previously talked about 2 for known markers), but that he needs a full workup, so she wants him to get an MRI of the brain and C-spine that we had previously talked about doing.

I don't know what all this means. Is the lack of marker found significant? Spontaneous ALS in a mother and then a son seems statistically unlikely. Should we be thinking second opinion? The changes we're seeing, and he's feeling, in the past six weeks are significant. I'm genuinely grateful for any insights and advice you can provide.
 

Nikki J

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You should definitely get a second opinion and it needs to be an ALS specialist. Columbia or Temple would be my recommendations. If this person was truly surprised by a negative FALS panel you need someone else.

the diagnosis of ALS needs bloodwork and MRIs to rule out other things so that is appropriate.

re FALS or not- the offspring of a SALS PALS does have a somewhat increased risk. This is because SALS is thought to happen from a mild genetic predisposition that only manifests with a series of environmental triggers. The child may inherit that predisposition so be susceptible IF they meet enough triggers

of people who are clearly FALS - multiple relatives ,usually multiple generations- about 60-70 percent have an identifiable mutation. However there are 30 plus percent who don’t.

2 confirmed ALS cases are considered possible FALS if there is no genetic mutation found because it could be the predisposition coupled with bad luck.

it sounds like the diagnosis is not at all confirmed. I hope it will never be. Seek the university level neuromuscular opinion
 

Jomeha

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Apr 4, 2020
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9
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CALS
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03/2020
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US
State
NJ
City
Ringoes
Your clear explanation of markers and FALS is great, this can be a bit overwhelming! This doctor was through the Rutgers medical school, while we really like her and she comes recommended a second opinion seems worthwhile. I'll take your advice and reach out to Columbia and Temple next week and see if either will see him. I'll also get the MRI scheduled for ASAP.

Thank you, I appreciate your time and effort in responding and explaining!
 
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