Increased Anxiety about my ALS Risk

[KenG]

Ok so I'm a 23 year old male. And I know this thread may seem ridiculous.

I have really really tried to not let my anxiety get the best of me and post the typical "Am I getting ALS?" thread, but after several months I've caved. I really hope I'm not offending anyone by sharing my possibly irrational anxieties.. it's absolutely not my intention.

My father was diagnosed with ALS December 2013. We have no prior family history of ALS. But I've been reading lately that there dichotomy between sporadic and familial ALS is breaking down. I.e., scientists are finding common genetic mutations between familial ALS cases and supposed sporadic cases. One research article I read stated that it was found that over 1/3 of sporadic cases may be caused by underlying low-penetrance hereditary genes in combination with other factors. What I get from this and what the article concludes is that, when previously thought that first-degree relatives of sporadic ALS patients have no increased risk of ALS than the general population, there may be underlying genetic mutations that may indeed raise their risk of ALS. (here's two such articles: http://www.medscape.com/viewarticle/755619 and http://www.medscape.com/viewarticle/837143)

This leads me to another major cause of my anxiety. Initially after my father's diagnosis I didn't think anything of my risk of ALS. About 6-8 months ago or so, I started noticing twitches in my leg which would come and go in the same spot. I know that twitches are not a primary sign of ALS, and that atrophy/clinical weakness typically precede fasciculations, however 6-8 months later with continuing problems and I can't get rid of my anxiety. The twitches seem to have been spreading though not in the typical linear fashion (e.g. hand to arm to shoulder, etc.). I get twitches every day in my legs, arms, back, neck (I don't know what the typical frequency of twitching is with ALS). I've lost around 13lbs of muscle (I'm extremely lean so this is a lot for me) over the past 9 months or so, which I attributed to my stopping lifting and recovery from a broken wrist; however now it's obviously lending to my anxiety.

About 3 months ago I started noticing increased phlegm/saliva in my throat which I attributed to allergies but has remained constant which hasn't been typical for me in prior years. I'm constantly clearing my throat and swallowing. This leads me to feel like I'm beginning to have trouble swallowing. I've also been seeming to have lots of cold-sweats at night over the past month or so.

I've tried to resume going to the gym over the past few weeks, during which I expected to have lost a significant amount of strength due to de-training, which I did. I had lost about 30% in my squat, which was sort of frightening due to my anxiety, but also semi-understandable due to the fact I had been regularly lifting for about 3 years and then basically stopped for almost a year.

I seem to get periodic weakness in my legs, hands, and arms, and of course I convince myself that my muscles are atrophying, but I am also constantly contracting these muscles to "test for" weakness so I may be putting myself in a vicious hypochondriacal cycle. What has me worried most recently though is the past ~3 months of increased phlegm/saliva and twitching/weakness in my neck.

And now the fact that I'm reading there's a false dichotomy between familial ALS and sporadic ALS and I may have an increased risk of developing ALS due to my dad having ALS, my anxiety has boiled over.

I am very sorry for the long post and venting.. I hope you can understand to some point my anxieties...

Ken

 

[Nikki J]

According to your link the increase in risk for you from the general population is very small. Add to that that twitches are so nonspecific as to be utterly menaingless and your other symptoms are vague and don't sound like ALS. Further add in known FALS it is very unusual for it to strike a full generation younger.
Go see your doctor and get checked. Do not freak out if you are referred to a neuro. Since this is clearly weighing on you if your father still lives consider asking him to test for c9 as that accounts for a fair amount of the crossover. If he did have c9 though it would not be affecting you at 23. It strikes at 35 and up
Edited to add. I see you were ( are?) taking an ssri. Although it is not in the listed side effects it seems not unusual for those taking ssris to report twitching

 

[texastracy]

My children both have twitches since I was diagnosed. But they stopped after a time. Both of them have decided to have genetic testing before they have children. My grandmother died of ALS.

 

[KenG]

According to your link the increase in risk for you from the general population is very small. Add to that that twitches are so nonspecific as to be utterly menaingless and your other symptoms are vague and don't sound like ALS. Further add in known FALS it is very unusual for it to strike a full generation younger.
Go see your doctor and get checked. Do not freak out if you are referred to a neuro. Since this is clearly weighing on you if your father still lives consider asking him to test for c9 as that accounts for a fair amount of the crossover. If he did have c9 though it would not be affecting you at 23. It strikes at 35 and up
Edited to add. I see you were ( are?) taking an ssri. Although it is not in the listed side effects it seems not unusual for those taking ssris to report twitching

I can just see this all spiraling downhill as we've had so much bad luck in our family lately and I'm incredibly anxious. I don't know what would happen if I did test positive for C9 or another gene. I am currently taking 3 different anti anxiety/depression medications but I have been for over two years. I'm beginning to think "oh, well what if I am genetically predisposed to ALS and these medications/over exertion/stress/toxins in the air have combined to trigger it?"

Would a GP be able to rule out ALS? Am I able to get tested for C9 without my dad being tested? I don't want my family to start freaking out if they know I'm worried about getting ALS. I'm probably barely making sense but this is my anxiety speaking.

 

[Nikki J]

Can a gp do a competent exam for reflexes and strength yes. It would be inappropriate in my opinion for you to test for c9. The odds of your dad having it are low. I thought obviously erroneously that if he proves negative it would reassure you now and in the future. A physician could technically order a test for it for you but probably would not given no evidence it is in the family and you not having ALS. Your anxiety and depression would also likely make them hesitate as you admit you might not handle the result. I should not have brought it up

My revised advice. Go to your gp for your symptoms and if you have a therapist call them. If you do not get one. Having a parent with ALS is devastating and it is common to worry for oneself. But you are out of all proportion here. Really. The very articles you cite indicate the increased risk is very small in your whole life time. To have it at 23 is ridiculously unlikely. You are describing a lot of symptoms that sound like a lot of the anxious people here. You have a diagnosis of anxiety. Address that now and believe whatever your gp says

 

[KenG]

I greatly appreciate your insight, Nikki. Thank you so much for taking the time to read my anxiety-ridden venting and giving your honest advice! I recall reading that the C9 mutation is present in I think 40% of fALS cases as well as something like 15% of sALS cases. This is making me worry that I essentially have a 15% chance of getting ALS. Is C9 not a 100% penetrance gene?

 

[Nikki J]

If your dad has c9 (unknown )then you only have a 50 percent chance of having the gene too so cut that in half anyway.
As I previously said c9 does not manifest until at least 35 average onset late 50s for males. So it would NOT cause you any issue now. Period.
Penetrance is high. Depends who you talk to. European doctors say 100 percent. I have seen research 86-98 %. And the doctor who led one of the teams that discovered the gene told me in person it is not 100 %.
But again you are not manifesting ALS symptoms, your dad is not known to carry c9 or anything else and even if he is you would only have a 50-50 chance of getting a gene defect and you are too young to manifest c9 even if you were a confirmed carrier. You have a known issue anxiety. Treat that and then reassess

 

[gooseberry]

First of all you have a ton of anxiety, get serious help for it because whatever you are doing isn't enough.

Symptoms with als do not come.and go. They only go when there is total loss of function in a muscle. They do not come.back. see your gpp forna n exam.

Twitches happen for everyone. Do you drink caffeine? 5hr energy, monster, red bull drinks? If so cut them out and most if not all of the twitches disappear. Get sleep,.keep hydrated, eat a healthy nutritious balanced diet.

Then after you have seen your doctor, come back if there is no improvement.