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jamesond

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Hi:

I haven't posted much as it's been a whirlwind following my best friend and cousin's death last year. He was diagnosed with a genetic form of ALS.

Apparently the gene responsible is called "SOD1." I also have the gene. I'm in my mid 40s.

At the time of his diagnosis, I had my blood tested and among the things they checked for were "CK" levels. They told us these are sometimes elevated in ALS. At the time, my CK was 91 (in the normal range).

Three weeks ago, my left shoulder muscle started twitching. It hasn't stopped. Given my family history, I saw my PCP who ran another CK test. It has risen to 293.

In addition to the twitching, there are strange sensations in the muscles of that arm. It feels like when a nurse puts a wrap around your arm and takes blood pressure, only far more subtle.

I'm giving it time to go away on its own, and have a follow-up in a few weeks. But I was curious if this type of CK elevation is concerning. What's an ALS-level CK value?

My cousin complained of muscle symptoms in his limbs, but mostly it was fatigue and cramping. He didn't initially present with weird arm sensations or twitching. He just started dropping things. So I'm not sure what to make of this.
 
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Nikki J

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CK is pretty nonspecific. I had an elevated level once when I was fine. It was related to exercise. Now my levels are normal.

Sorry about your cousin.

I have been told by an ALS specialist that sod1 people can twitch for years before any other symptoms develop. This is different than sporadic ALS.

Because you are a gene carrier I encourage you to get checked just to be sure you have no unnoticed signs.

Assuming everything checks out ok I also encourage you to look into participating in research opportunities for gene carriers.

Btw do you know which variant of sod1 your family carries?
 

jamesond

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Thank you, Nikki.

The neurologist said it was the most popular form of familial ALS, if that makes sense. I don't recall my cousin twitching until after he started dropping things, but I could be wrong about what I remember. I also don't recall him complaining about sensations and pain other than cramping/stiffness and fatigue.

I'll wait and see what the doc says in our follow-up.
 

Nikki J

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Just fyi the most common form of FALS is actually C9orf72 ( about 40 percent). SOD1 is about 20 percent but perhaps the neuro meant the most common form of SOD1 which is AV4?

Good luck with your follow up. Let us know
 

gooseberry

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I would only add that als presents differently for everyone and each course is different. Knowing your history I would think close followup with your doctor is a good idea.
 

jamesond

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Thanks everyone for the information. Is there a list somewhere of specific gene mutation SNP numbers that I can compare against my genetic test? I can see SNP numbers that are popping up on my genome, but I'm not sure if any of the ones in either the SOD1 or C9orf72 are pathogenic. For example, rs3739526 (https://www.ncbi.nlm.nih.gov/clinvar/variation/366490/)

Thanks again!
 

Nikki J

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Did you have genome sequencing then instead of a standard test for SOD1 which you said was your cousin's identified genetic defect? How did you determine you were SOD1 positive?

Pathogenic repeats of c9 do not show up on standard sequencing but that should not be relevant to you anyway. What you see in those sequencing reports related to c9 is different and supposed to be clinically insignificant. SOD1 does show though. What are seeing or what were you told about a positive test?
 

jamesond

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Blast it. I'm mixing up my information. Sorry about that. I'll need to dig up the paperwork for the test my doc gave me. I can't recall what specific details are on it. What I'm looking at is the (much less expensive) 23andme.com results I did years ago and by "genetic test" that was what I was referring to. On that site is a search engine where you can enter "SOD1" and it will return a list of "SNP" numbers related to your genetic data on file. You can also type in "C9orf72" and get details. Thing is, I'm not sure what I'm looking at, really. I'll dig out the doctor's paperwork and see if it can give me some more info. It may have the SNP values I was curious about.
 
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