Fearing a familial als

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Sid679

New member
Joined
Mar 24, 2019
Messages
2
Reason
Loved one DX
Diagnosis
02/2019
Country
IN
State
GJ
City
A
Hi,
My father is 65 years old and diagonised with ALS six months. My family has no history of ALS but during this six months I started getting twitches all over my body though there's no atrophy or weakness, so it could be because of severe anxiety and stress that I have been going through. But recently my pragnant wife was diagnosed with chromosome 21effect in featus . So I am worried about the case of familial Als. I have heard the link between chromosome 21 and ALS.
 
I'm very sorry about your dad. Let us know if you need help as his son.

Your age, your dad's and your wife's pregnancy (congratulations!) don't fit together for familial ALS that I can see. If there is familial ALS, it generally shows up at around the same age. You are a very different age than your dad was when diagnosed.

Chromosome 21 has many different genes, so I would expect that your wife should have been told about a specific problem, not just "chromosome 21." The most common is Down syndrome.

Familial ALS can be caused by a different problem with chromosome 21. But one has nothing to do with the other.

Best,
Laurie
 
Sod1 is the chromosome 21 mutation you probably read about.

Sod1 usually manifests in the 40s and is highly penetrant so it would be unlikely to suddenly appear at 65 in one person

As you say twitching is more likely to be from all your stress with your dad, your wife and worry about the baby.

I suggest you first speak to the doctor or geneticist who is advising you about the fetal test. They can almost certainly tell you it is a completely different chromosome 21 issue they see

Your father can also have genetic testing if there is a reason for concern

Ten percent ( approximately) of ALS is FALS but the majority of the ten percent know they are FALS with multiple relatives and generations affected
 
IGELB and NIKKI
Thank you so much for your valuable inputs. I was so much worried that should plan a family or not ? because of it's familial i certainly do not want to pass it to next generation .
As for genetic testing of my father, I inquired a lot but I did not find any credible genetic testing facility in India specially for ALS.
 
I don’t think it matters because your dad does not have any clinical indication for FALS but I am sure there is a way to get tested for those who need it.

I hope a brief chat with your wife’s doctors will put your mind to rest.

And don’t worry about the twitching!
 
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