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Cforinger1

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First off thank you for taking time to even read this and answer. I will try to make this as short and sweet as possible. So my mother was diagnosed with ALS about 4 years ago and lives with me. I have watched this terrible disease take away her hands, feet arms and legs. This disease is slowly taking away my mother and it kills me that there is nothing i can do.
Since her diagnosis and my brother telling me that she has both SODS1 and 2 and my brother having SODS1, which i really dont understand the likelyhood of him having the disease or the likelyhood of me having the disease. In september i started having issues, I was working out almost everyday without problems, but i noticed that when I tried to pick something up, it would seem heavier than it was. I didnt think anything of it, and thought it was more or less a pinch nerve or shoulder problems considering my left shoulder was hurting. The next thing I know my leg seizes up and cramps up to the point where I can barely walk. My leg went back to normal, but my anxiety was sky rocketing, the next symptom I expierenced was my face going numb and tingling. My tounge started tingling and I started to get vertigo. I decided to go the Drs who wrote me a script for zoloft and sent me on my way. 3 days later I stopped taking my meds and figured it was just from anxiety and my shoulder seemed fine and leg stopped hurting. I went 4 months without a single issue, and I chalked it up to anxiety and stress. Earlier this month out of no where certain spot of my face would go numb and get pins and needles just like before. This time I went to the ER, 1 CT scan and blood work later, DR has no idea whats wrong with me. Since then my numbness and pins and needles left my face, but now my shoulder has started to act up and my leg feels like strained a muscle or is cramping. Granted I think the muscle cramping in my leg is from doing ALS strength tests on my calf.
So to get to my symptoms; I have not twitches but a single twitch all over my body, I am able to pick up weight, and do the weight I was able to do before, but my muscle fatigue quickly, and lastly my left foot of the leg that feels like it cramped or strained, feels like its vibrating. Some back round to my medical history, I have stenosis in my back and I have bulge in my C4 and C5 of my neck. I plan to see a neurologist but I am in the middle of getting a new PCP and the Neuro wants a referral. So my question to everyone is am I crazy? Do I even fall into a category of ALS or should does it lean more to MS?
 

Nikki J

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It doesn't sound like ALS particularly. The neuro will presumably examine you and decide if tests are needed. If your mum does indeed have SOD1 then your chances of inheriting the genetic defect are 50 percent. There are a number of variants of SOD1. Sone of them are highly penetrant meaning that if you have the defect you are extremely likely to get ALS.

You can choose to get tested for the defective gene but there are lots of issues to consider. Read the sticky in the familial ALS section for information on that an discuss with your neuro.

It is unusual for someone with genetic ALS to develop it when their parent does. Usually it is around the same age or just a little younger not a full generation. How old is everyone?
 

Cforinger1

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my mother is 67 I am 33 my brothers are 36 and 40 I have no other family members that have ALS or any MNDs
 

Nikki J

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It is odd then she was even tested. If I were you I would try to get a copy of her genetic test to show the doctor when you go. I wonder if this was something like the 23 and me test which may be misinterpreted. You owe it to yourself to find out exactly what you are deling with
 

Cforinger1

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it was a 23 and me test my brother had her do, and it came back that she had both genes of ALS, and that my brother had 1 gene. So I would think it was not FALS, because none of my mothers brother or sisters or their kids have ALS or any other MND.
 

Nikki J

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Discuss with your neurologist and show them the result. I don't think it means the same as testing positive for the sod1 ALS mutation but I have never seen the actual test results. I know they report a c9 defect that is completely different than the C9orf72 defect I carry.

You owe it to yourself to get clarification. If this is not true SOD1 ALS then your risk becomes very low indeed- very close to that of someone with no ALS relatives at all. If your mom actually has sod1 ALS she should try to get into the current SOD1 gene blocking trial but it sounds like it is highly questionable
 

Cforinger1

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She is to far gone at this point, and she had the opportunity to get into a study and refused early on in her diagnosis.
 

Cforinger1

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So if you have SOD1 what are the chances of getting ALS? 50/50? or 100%?
 

Nikki J

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It depends on the variant. There are different types. see what I wrote in post 2 and read the FALS sticky. But ask your neurologist after the test she had. I think this is a non issue but s/he can look at the 23andme report and tell you definitely whether you need have any concern at all
 

Cforinger1

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Thank you Nikki so much for your time and patience! I will keep you updated
 

Cforinger1

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my moms varaints are CC my brothers were CT and he does not beleive its familial
 

Atsugi

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I thought I'd chime in just in case one more opinion might be helpful.

CFORINGER, all those things you listed as "symptoms"... weren't. You didn't describe having ALS.
 
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