genetic testing and sporadic als

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Edward E

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This may be an ignorant question. My wife has been given the diagnosis of "Upper Motor Neuron Disease". She has three cousins that have "Rapid Onset Dystonia Pakinsonism".
The neuro wants to do genetic testing on my wife, one cousin, and the parent who had the mutation. I do not know what exactly they are going to look for. They seem to think this will give them the answer. I am not so sure. If my wife's condition is sporadic, would that show up in this genetic test?
I have no idea if it would or would not. Any helpful info is greatly appreciated.

Thanks
Ed
 

gooseberry

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There is some thought out there of a link or association between parkinsons disease and als. I really don't know more than that.
 

Nikki J

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Truly sporadic is not genetic but sometimes a cluster of neuro conditions in the family turn out to have a common genetic cause. is this a research project? Or is it commercial testing? If the latter ask what is being tested, is insurance going to pay and possibly is it necessary to test everyone simultaneously? If insurance coverage is iffy perhaps test your wife then others if she is positive.
My gene defect c9 orf72 has some other presentations besides MND including a Parkinsons like disease called progressive supranuclear palsy
 
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Edward E

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I believe there is some "research" as they think the chances of having two rare neuro disorders in the same family must have a link. My insurance must have approved it as they would not be moving forward otherwise. I believe there must be some research/publishing money for her uncle and cousin.
 

hjlindley

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Nikki is right. I am also seeing C9O RF 72, But it appears that I am DE nova, Which means the first one. The more we know about these genes the better, and I believe there thinking that a lot of the neurological diseases may be related. Best of luck to you,
Hollister
 
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