fals, c9 gene identified, big family, concerns on risk

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azmully

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Hello and thank you in advance for your time.

I'm very new to this site and this is my first post.

Recently my 2 Uncles aged 57 (limb onset) and 63 (bulbar upper motor neurons) ( on my fathers side) were diagnosed with fALS approximately 1.5 years apart. The Barrow Neurological center identified the C9 gene. Our family is of Northern European descent and we have a big Irish heritage family.

The only other relative that we know of was my father's Uncle Leo who died in 1987 from ALS. My Dad's father died young from a blood clot mid 40s ( leaving 11 kids yikes) ,however, it's now clear he too like his brother Leo carried this gene.

3 questions and I hope this is okay.

1. I would be interested in c9 studies that I could share with my Aunts and Uncles, 7 of which are over 50+ years old, 3 have died of other causes, and 2 have been diagnosed with fALS (mentioned above).

2. My father is 73 and in very good health , but I would like to know more penetrance, I've read about the median age and realize it's still possible until 80+. Is this correct? I'm also trying to determine my own risk as well. I spoke to a genetic counselor and with a Bayesian approach it was in the 8%-10% range based on my Dads age, does this sound correct? I have a bother and sister so we were curious.

3. Do I have any reason to worry based on the genetics and my concerns? I'm 49 years, 5'11 and 178 lbs.

a. last 6 months I've woken every morning with rigidly tight legs, as I take a few steps ( bent knees a bit gingerly) it feels like a "wave or contraction in my legs...then I'm good, perhaps it's the muscles trying to wake" and then it subsides after a few steps but lingering soreness remains. This is new but consistent every AM.
b. The last 2 months legs started to feel tight during day ( liked they been worked) especially in left calf. I assume this was from sleep tightness.
c. Some fasciculation's all over body legs, biceps, chest area. I was told this was perhaps due to new Thyroid RX that I was taking.
d. Today I tried to stand on heels and walk and my left foot is not cooperating the (toes) are barely raised with max effort and leaning my body back to cheat. My right foot is bit better but not great, this is the first time I've tried so I'm not calibrated.
e. My walking gait seems a bit off in left leg. I don't feel a foot slap and have not tripped or lost a shoe as of yet.
f. I can stand on tip toes but feel the tightness in calves.

Thank you and sorry for asking several questions on different topics.
Kind regards,
Mike
 

Nikki J

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3 long term unless/ until you find out your branch is clear you have some reason for concern. The longer your dad stays well the less the concern would be.

3a-f. It really doesn’t sound like ALS but go get checked if you are worried. Self testing is futile and anxiety provoking. Your description of heel walking trouble doesn’t sound like mine and my ability to stand on tip toe just went. I could until I could not

2. the penetrance of c9 in males is supposed to be almost 100 percent by early 80s. I am not sure of the statistical risk for you now but it started at no more than 25 percent and is dropping every year What you were told sounds reasonable.

1. There are lots of c9 studies and FALS studies around. Some of them are paused currently Do the siblings want to participate? Where do they live and are they willing to travel? Are they up for longitudinal studies over multiple years? If they are in Arizona you might have someone try Mayo. The other Mayos have a c9 study for first degree relatives They likely do. Mayo JAX does a lot of C9 research.

there is generally a lot of hope for c9 families. There is one gene therapy in trial. Metformin is in trial as a possible mitigating drug. There are other c9 focused trials on the horizon and a lot of bench science is devoted to it. In a weird way c9 is a good mutation to have if you must have one. Because it causes so much disease it is a tempting target for researchers and drug companies. As you probably know it was only discovered in late 2011 but we have learned a lot new research appears almost daily.

I am sorry it touched your family. I hope your branch is safe. It sounds like there is a good chance you are
 

azmully

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Thank you very much Nikki for your prompt and thoughtful reply, I really do appreciate this.

1. I would need to check with my Aunts/Uncles about willingness to participate ( herding cats). I think since we have oodles of cousins (who have kids) this could help drive the case for willingness to participate. Yes we all live in AZ.

Thank you again this site is really special the moderators are very generous. Have a great day!
 

Nikki J

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Generally studies are for first degree relatives of affected people so siblings and children so those are the people who might qualify.

This is kind of a starter study.if your relatives don’t want to do this they certainly won’t do anything else. It would be a good way to get things started.

It would need one of the current PALS to sign up and then other relatives get invited. All done by phone or mail in. I did organize this when I was asymptomatic but my sister who was our current PALS had agreed. There was a fairly long family history questionnaire that goes to the PALS as well as questionnaires for everyone in the study. Tell your PALS you would fill out the family history paperwork if they want. Everyone mails in blood. They send out tubes.

One time study easy. Genetic Study of Familial and Sporadic ALS/Motor Neuron Disease, Miyoshi Myopathy and Other Neuromuscular Disorders - Full Text View - ClinicalTrials.gov
 
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azmully

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Thanks again Nikki this starter study is very helpful. I'll see what I can do to kick this off!
 

azmully

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To ease my mind I did get a EMG last Friday since my left leg still can't do a calf raise and I'm still unable to stand back on heels. Tippy toes are good but after a walk at times the left foot seems weaker then recovers for the tippy toe test. My overall strength is good when he tested my dorsiflex etc.

The Neurologist who did the EMG was not able to share any results after the full body test, however, he knows the ALS doctor listed in my paperwork and suggested that I get a MRI when I see him.

Question: Are MRI's a common follow up after EMG?

I don't have the results as of yet. At the moment for the last 30 days I've continued to have spasms all over in quads in legs, chest, abs and shoulders as well.

Thank you,
Mike
 

Nikki J

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Mri of what? If lumbar spine for example ( given your foot issue) they might have seen an indication of a back issue. That is the most usual reason for recommending - a suspected spine issue
 

azmully

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I asked about the results and he apologized and said he could not confirm anything and only suggested I get a MRI for my visit with the ALS doctor. I wish I would asked where or what for, but I was a bit thrown off by not his being able to share at that time. I'll get the results soon enough so thank you again.
 

KimT

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MRIs of the brain and spine are used to identify conditions other than ALS. There are many.
 

azmully

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I just received my EMG, and I have not yet talked to my doctor as of yet. This does not look positive from what I see in the interpretation and impression summaries. Would appreciate guidance on this.
 

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Nikki J

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it would be helpful if you also posted the table mentioned. Yes the summary sounds concerning. However you do need other tests done and a clinical exam to make a diagnosis. I am unclear have you had a neurologist examine you outside of the emg? If so what were the findings?

i am sorry. You must be very scared
 

azmully

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Yes here are the other docs, no I'm due soon for a neurologist exam, this EMG was my only evaluation for my current issues at the moment. Thank you Nikki for your time on this.
 

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lgelb

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From the results, I understand your concern but it is not a slam dunk dx. You will want a second opinion regardless of what the neurologist concludes after all testing is in.

Best,
Laurie
 

azmully

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Thank you. Not sure and my head is really spinning with this. I had thought my initial symptoms of "waking my tight legs" every AM for 6 + months didn't align, but in June when I lost the ability to stand on heels I was concerned. For much of June I was still working out until the shut down and saw no issues on my strength, even now I have good strength. Also after walking ( my left leg gets tired) and I do lose ability to walk tippy toes but it come back after a bit of time.

With C9 in our family ( dad's side) and my dad being totally good at 73 is also in the cards for me. I hope to see the neurologist soon.
 

Nikki J

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who ordered the emg? Your pcp? Is it being sent to the neuromuscular? Are you being seen at a university level ALS center? I think that is where you need to be ( though I agree with Laurie after that a second opinion). Are you going to the same place as your relatives?

if this is ALS hopefully it is slow and hopefully you can get into the next round of the c9 trial. When you get genetically tested try to have it go to prevention genetics. It is the lab the trial wants
 
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