Looking for insight on chances of ALS due to genetic mutations

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Natasha12345

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Hello,
I will try to make this quick, as I have much respect for PALS and caregivers, family members. My father began showing symptoms of ALS in 2005 at age 50, and was diagnosed with ALS in 2007, and passed in 2010. Both of his parents have many brothers and sisters who generally lived to older age, many who are still living now. No known history of ALS or neurological disorder on either side.

He has two sisters who are still living, his mother is in her 80s, his father passed in his 70s due to bladder cancer. No history of dementia that we know of either. My fathers disease started in arms and progressed, NEVER showing any problems with eating, swallowing, talking, ect.

At that time, we were told his case was “sporadic”, no known cause. I never questioned this fact until recently. I was going through a rather tough time in my pregnancy beginning first of February and was having some extreme anxiety. At this time, I started having muscle twitches in knees and feet, then randomly all over. Sometimes my calves will feel like they tense up and then relax, and also I’m having jerking episodes when trying to fall asleep.

Ive been to neurologist and have been seeing psychologist. Neurologist is not concerned, said EMG did not suggest ALS, thinks it’s all anxiety related. Asked about family history, ect and pretty much blew me off after that saying that I don’t have anything to worry about.

However, I do know after reading several studies that I am in fact at increased risk due to my father having it (1:100). I have also read that a younger age of onset and strictly LMN symptoms only generally point to a greater chance of genetic mutation/ or genetic issue mainly with the c9 gene. I have one child already and am pregnant now, and I’m very concerned about the possibility of me carrying a mutated gene that happened first in my father and now I will develop the disease and risk passing it to my children. Is genetic testing even a possibility if my father has already passed. Any insight anyone would have have on these issues would be greatly appreciated.
 
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Nikki J

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The1in 100 is due not to a single mutation like c9 but rather an unidentifiable combination ofgenetic factors that confer a slight susceptibility that if combined with multiple still unknown triggers make offspring of SALS slightly more likelt than the general population.

if you had a suspicious emg or a suspicious clinical exam then theorizing about c9 would be warranted. You did not. Nor are your symptoms worrisome.

LMN disease is detected by an emg especially and exam. I am unaware of studies that indicate lmn disease particularly in c9. I happen to be lmnd but my sister was not. And c9 average onset is generally late 50s though it can be younger. Genetic anticipation has been theorized but most people seem to discount it.

if you wanted to pay I suppose you could be tested for mutations if a doctor was willing to order it. Insurance won’t cover unnecessary testing. Would a negative test for the knownFALS mutations reassure you?
 

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So sorry about your father.
It is quite common for adult children to believe they are getting symptoms when they are only really twitching at a time of stress.

You have no real symptoms and have clean tests, so I hope you can relax and enjoy the prospect of new life.
All the very best - as Nikki says, if you are this anxious you may not believe further testing. This could be worth talking with your doctor about as some counselling may really help you look at the root causes.
 

Natasha12345

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In your opinion, does 50y age of onset seem young for truly sporadic? He was a brick mason and had several back injuries throughout his lifetime, as well as a dipper/ smoker and alcoholic. I don’t know if any of this would play a part or not. I’ve contemplated genetic testing if it was available, but I am unsure if it is something that I would want to know. And would that be fair for my children? I am worried and torn and am looking for advice.
 

Nikki J

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No 50 is not that young for SALS. Younger than average by a few years but well within range. smoking correlates with increased risk.

genetic testing for FALS is not generally recommended for asymptomatic people unless there is a known family mutation even when it is clearly FALS.

you need to let this go. You don’t have ALS. Your lifetime risk is 1 in 100. Your current risk as a younger woman ( basing this on your pregnant status) is much lower. 1 in 100 sounds like a lot but consider your risk of breast cancer is at least 10 times that. Your risk of ovarian cancer is 1 in 78. And there are other cancers, heart disease and other diseases far more likely to take you
 

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The best advice is to let this go now - you have asked which is good, and we have given time answering clearly :)
 

Natasha12345

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Thank you Nikki and affected for taking time to answer me. I appreciate you both. I will try to move on. My fear is that, because I know I am at increased risk, I will not stop worrying for myself and my children.
 

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Natasha, iron, folic acid, and B12 deficiencies are common in pregnancy and can cause twitching. Folate is also important to avoiding birth defects.

Pregnancy can also disturb sleep in its own right. I would ask your PCP or OB about possible empiric supplementation, see if your sleep routine is everything it should be, and make sure your diet is supportive.

Best,
Laurie
 

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Um you aren't really at increased risk, your dad had sporadic ALS. You can choose to future worry or not, but I'm glad we could answer your questions here. Only a doctor can help from this point forward, I wish you the best in a long life.
 

Natasha12345

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Thank you Laurie.
I’m actually on an extra iron supplement, a Bcomplex and prenatal with folic acid. Sometimes the twitches feel like a flutter or just a single “bump”. Mainly bottom and side of feet and right above knees and occasionally thighs, and side of calves. Also, my thumb muscle and wrist. Started in February very suttle above knees, almost like a strange sensation at first, rather than twitch. Then one day, very violently on bottom of both feet. Since then, it has started in the other areas that I mentioned. I do have anxiety issues, but I am much less anxious than I was in February, but the symptoms are worse. I try to stay positive, but fear makes me think maybe it’s all just getting started. Most people with the symptoms I have probably wouldn’t even have considered going to the dr yet. I can just remember my dads twitching, which was after his arm weakness, and I got an appt asap. Maybe I was examined too early?
 

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No, it doesn't work like that.

There is no family history to support any genetic form of ALS, and even if there were, as Nikki pointed out, the age of onsets between children and parents tend to be close together. I don't think you're 50.

As you state yourself, your dad began twitching after weakness manifested. You're not weak.

The good news is that you don't have any reason to be worried about ALS. I would suggest seeing a counselor via video to explore what else you might be worried about.

I'm closing this thread because you are better off doing that than staying here.
 
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