Confusing History

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StarryNight

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Feb 26, 2020
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Learn about ALS
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CA
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Montreal
Hello,

I don't know very much about ALS but I am worried as my husband seems to have a family history. When I dug deeper into this family history, it seemed to me as though some things don't add up.

My husband's youngest paternal uncle passed away this year from ALS. He was the youngest of about 8 siblings, male and female. He was the only affected one. These siblings came from unaffected parents. However, these siblings have 2 or 3 paternal aunts/uncles who apparently also had ALS. I find it weird that the gene seemed to skip down to the nephew without affecting the parent. Furthermore, none of the affected great aunts/uncles passed ALS on to their offspring.

I wondered if the gaps could be explained by FTD possibly? My husband's father does have a strange personality, occasional inappropriate behaviour. Nothing crazy, but a bit odd. I wondered if he had FTD. My husband reports that his dad has always been this way, since he was a kid. (Husband is now 31, father is in late 50s/early 60s).

I'm confused. I feel as though my uncle's husband possibly had sporadic ALS, and maybe the great aunts/uncles had other neurological issues (such as strokes?) that the family felt was similiar and so decided it was the same diagnosis.

I'm really worried. I do understand that genetic testing is the way to go, but my husband doesn't want to go down that route. Hope you guys can help me find some reassurance.
 
If your fil has always been odd then it doesn’t seem like ftd. Ftd is a progressive disease and presents with a personality change

if all the ALS cases you mention were solid diagnoses then it is possible there is a mutation that is not fully penetrant and your husband’s GF was a carrier. How old was he when he died?

if those other relatives really had other things then of course you really should not worry at all

if it is a low penetrant mutation then even if ( and big if) this is FALS then your husband’s chance of carrying it is one in 4. his chance of manifesting it would be even less since it would have unaffected carriers. I say one in four because in this scenario the gf has to be a carrier so his son ( your fil) has a 50/50 chance and so his children would be 25 percent.

unless your father’s uncle tested positive for a genetic mutation which I think is not the case then it is not at all clear the gene testing your husband is the way to go even if he wanted it. Read the pinned post above
 
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