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franzia82

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My father was recently diagnosed with ALS at age 55. There is no history in our family of but several members have died before the typical age of onset. 2 of his mom's sisters died of MS which I'm now wondering if that could have been a misdiagnosis. His dad died at 68, not from ALS or anything similar. His mom is still alive in her 70s with no ALS symptoms.

My question is: Is it possible for my dads ALS to be familial even though neither of his parents had it?
 

Nikki J

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I am so sorry about your dad. Re the FALS issue probably not but talk to your dad's neuro about your concern. As you no doubt know it is probably FALS when 2 people in the same family get ALS. For your greataunts to be relevant their sister would have to be a gene carrier and she is still living in her 70s which is encouraging. MS is pretty different than ALS so unlikely they were both misdiagnosed. If you have been searching though you may have run into the one paper I have seen that studied people with MS. They tested them for the c9orf72 defect that is a cause of FALS. There were a couple of people who tested positive for it and they subsequently developed ALS. There was an implication that the c9 had something to do with their initial MS but they did not really support that with any facts and it seemed to me they were just very unlucky happened to get MS and had the gene for ALS. I have not seen any other reports of this in the literature and MS is not mentioned when the neuros talk about other c9 diseases (it causes a form of dementia with or without ALS and rarely something called progressive supranuclear palsy).
 

franzia82

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Thank you for your reply. The neuro was the one who originally planted the idea in my head, but he's not a good people person, not very sensitive to the situation. When asking my dad about his family history my dad mentioned the aunt with MS. The neuro said that MS/ALS were often misdiagnosed (although this was only 10-20 years ago) and that more than one person with ALS in the family could mean it is familial.

My understanding was like you said, in order for it to be passed from my grandma to my dad she would have to be a gene carrier. The fact that she is 74 with no symptoms is encouraging that she might not have the gene. Also she would've had to get it from her parents, both of whom died in their mid 70's of other causes.

Not much is known about my dad's dad's side of the family but he died at 68 with no ALS symptoms. It's hard not to worry about it being familial since my dad was diagnosed so I am trying to rule out that possibility in order to remove a source of unnecessary stress right now.

Our family has a Scandinavian background so I'm hoping that he has the slower progressing form of the disease. Although it was tough to determine from internet research whether this slower form is found only in Scandinavian countries or people of Scandinavian descent regardless of where they currently live...

Thanks again
 

Nikki J

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I would not worry about the paternal side at all. FALS as you know is rare. If your dad is up for it and you are worried about the maternal side maybe ask for him to have genetic testing? While all genes are not yet found they can now find the gene for the majority of FALS cases. Since your dad is diagnosed there is a decent chance insurance would pay ( find out first!) it is super expensive! It is just a blood draw so not too invasive. If it is FALS ( I pray not) there are things on the horizon for sod1 and c9orf72
 
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