Dad passed away from ALS, now I have some symptoms

[kreismetal]

Hello all,

I recognize that this isn't a forum for doctors, but there is nonetheless a lot of ALS-related knowledge here.

I'm 26 years old, and my dad passed away from (presumed sporadic) limb-onset ALS at age 56, four years after his diagnosis. I've never had a lot of ALS fears, but in mid-October I had the sudden onset of widespread fasciculations (all four limbs, shoulders, back, stomach, neck).

I was fortunate enough to see a neurologist within 10 days of the onset of these symptoms. She did an EMG and a clinical exam, and found nothing worrisome, concluding that my fasciculations were benign. Great! Since then, I've experienced occasional cramps in my legs and back...on a handful of occasions, and intermittently over the period of one or two days.

Two weeks ago, I noticed that my right (mouse) hand was feeling crampy in the hypothenar area (palm area below the pinky and ring fingers), and pinching that muscle while it's flexed reveals what I believe is a quite clear difference in muscle mass. Visually, it's possible to notice only very subtle differences in the roundedness of that part of my palm.

I have no noticeable weakness.

Under normal circumstances, I'd look at the chances of a 26-year-old having ALS, especially when presenting without weakness, and not worry to much. But with a family history, the chance of having these symptoms and it NOT being ALS seems the remoter possibility.

My question is one of how to proceed:

1) Should I live in blissful-ish ignorance and only schedule another visit with a neurologist if/when my symptoms become undeniable, and hope that I'm all wrong and there's nothing to worry about?
2) Should I visit the neurologist and risk either an inconclusive assessment or immediate diagnosis. Is it better to hope and worry, or just to deal with it?
3) Am I being an hypochondriac, and try to instead just see a therapist.

I very much appreciate input from those who have been through this process.

 

[Atsugi]

1.

You probably already know that an EMG detects nerve damage long before symptoms are seen. The negative EMG means no ALS.

Also, it seems to be generally accepted that a single incidence does not make a "family history"

You're right not to worry, since you don't have a solid symptom. I probably don't need to give the lecture on twitches, but here it is. In ALS, twitches occur localized to the muscle that is paralyzed. Twitches typically don't occur all over.

I wouldn't sweat the size of your hands. Atrophy occurs AFTER paralysis in ALS.

So relax and see if the twitches go away.

 

[Nikki J]

I am very sorry about your dad. The chances of it being FALS are very small with only one relative plus you are much younger than your dad was.
Since you are worried I would go get it checked out. I strongly suspect it will be good news given the above plus lack of weakness. I understand it looks different but even though it is the dominant side it is not unusual to be assymmetrical

You have been through a terrible experience with your dad and it seems that everyone I have met in real life who lost someone to SALS fears the hidden FALS but that is very very rare and again you are so much younger. Different types of FALS tend to have different average age of onset

 

[skipper66]

I totally understand your fear with your family history. My mom passed away of cancer and now my dad has ALS. I tend to want to freak out when my body does anything different then normal. I just got done with a procedure for a frozen shoulder. I had never had anything even remotely like that. I was thinking in the back of my mind "Is this a symptom of ALS." I even asked the doctor who assured me it had absolutely no connection. I truly feel you have nothing to worry about. But, if you need extra reassurance consult with your doctor. I'm so sorry for the loss of your father. Best of luck to you. Kim

 

[kreismetal]

Thank you all for your replies. There is an uncomfortable irony in soliciting the input of people who must personally confront ALS to provide me with reassurance that I won't have to.

Nikki, I had read a few of your posts and am sincerely sorry about your fALS situation. The notion that this may afflict my family more than once is of course incredibly difficult to thing contemplate. I'm humbled by your courage and positivity (as it is evident on the forums).

I'm still not sure whether I will follow up with a neurologist again - if I can manage to keep my anxiety in check, I think I would rather not go back unless I clearly have to. I do wonder though: in the worst case of an ALS diagnosis, would I rather know sooner so that I can cash in my retirement savings and travel the world while I am still physically able?

As for the tenets of ALS progression that are often quoted here to re-assure those with health anxiety, I remain a bit skeptical. For example, I came across a research paper that observed fasciculations as a presenting symptom in 7% of ALS cases, and there are several accounts of the same on these forums. As for EMGs - people like to regard "clean" or "dirty" EMGs as a conclusive, but medical literature seems to offer a more nuanced view of the role of EMGs in diagnosing ALS. (And I believe there are anecdotal cases of a "clean" EMG progressing to an ALS diagnosis.)

All of the probability-based reassurances also seem a bit flimsy in my case: yes, it's very rare for someone to get ALS at age 26, or to present with fasciculations, or maybe for fALS to exist without an extensive family history. But on the other hand, what percentage of people who had a parent with ALS experience unrelenting fasciculations, muscle cramps, and (possible) atrophy? That data probably doesn't exist.

Anyway, excuse my rant on that topic. I do very much appreciate the existence of this forum, and the efforts of everyone who participates in it.

 

[Nikki J]

That research paper is often cited. It is 20 years old. I do question whether in a larger sample it would hold true ( doubt it personally). It is true that SOD1 people do tend to twitch for some time before other symptoms but there is no reason to suppose that applies to you
A lot of people twitch and cramp with and without family history.
I think those clean EMG cases tend to be UMN dominant people whose exams indicate an issue. A clean exam and clean EMG is a very different case than an abnormal exam.
You must do what is right for you. If you did have ALS ( and from what you have shared it still seems unlikely to me but your neurologist is of course the person who could assess it properly) it is my belief there is benefit to early diagnosis and treatment.
Best of luck