Simple DNA test could detect common neurological... - Ataxia UK

Ataxia UK

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Simple DNA test could detect common neurological disorders, study says

edfosho profile image
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theguardian.com/science/202...

Interesting to hear, good news for a speedier diagnosis.

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edfosho profile image
edfosho
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SilentEchoes profile image
SilentEchoes

The genetic forms of neurological disorders is rare and makes up only 5-10% of cases, and even then, most genes are not completely penetrant, it's a risk factor only.

Environmental risk factors play a much larger role in the development of disease.

Genetics load the gun -> environment pulls the trigger.

Would you have wanted to know sooner that you have a genetic disease? Is it a de novo mutation? And can it be passed on to offspring?

Because of the string of neurodegenerative diseases running through my family tree I was tested, a mutation that is a risk factor was found. One of my children absolutely does not want to know information about genetic factors. There's a lot riding on the decision to test.

SE

wobblybee profile image
wobblybee

Copied from the link..

Before my diagnosis, I thought it would be better if I had cancer as there’s usually a clear path of action to help you fight the disease. Having a diagnosis isn’t a cure, but at last I know what is happening and understand what I need to do to delay the inevitable for as long as possible.”

So many of us coping with frustrating, debilitating, non-sensical symptoms, would welcome this test..

PatsyIpswich profile image
PatsyIpswich

Thanks for sharing 👍