My family does not want to be tested for Ataxia

[coupons]

I have ataxia, but do not know what kind. My brother has canvas, but never officially tested for it. My genealogist suggested to ask my brother to get tested to rule out some of the kinds of ataxia I might have. He said he doesn't want to have a gene test because it would not do him any good. I asked my daughter if she would get tested and she doesn't understand why I would want her to be tested. I am kind of upset that they do not want to do this for me. Has anyone else had this problem?

[wobblybee]

🤔 Your brother has to have a positive genetic test result to confirm he has CANVAS.

I have symptoms related to CANVAS..but the test result was negative.

This is the name of the specific test..RFC1 CANVAS

At least one family member needs to have a positive genetic test for a specific type of ataxia.. for it to be considered genetic.

[Wazzer72]

it’s there choice if they don’t want to be tested I would want to no

[viv112]

I have had a positive test for CANVAS. It is inherited via both one’s parents having and passing on a recessive gene. There is a 1 in 4 chance of inheriting the recessive gene from both parents. A 2 in 4 chance of inheriting 1 recessive gene and 1 in 4 chance of not receiving the recessive gene from either parent. Your neurologist would suggest you take the blood test if he thought it was appropriate. There are other significant symptoms like having a dry tickly cough for many years and neuropathy. It is unlikely that your daughters father would have the recessive gene even if you have the recessive gene. The only way to find out would be to have the test yourself.

[coupons in reply to viv112]

I was tested and have only the one recessive gene. So, I do have ataxia and neuropathy. My daughter has a 2 in 4 chance of inheriting the gene from me, correct?

[viv112]

Hi. If you have just one recessive gene and one dominant gene you won’t have CANVAS. You have to have inherited 2 recessive genes, one from each parent. The recessive gene is rare so it is unlikely your daughters father also had the recessive gene. Even if he did there would only be a 1 in 4 chance Your daughter would inherit the recessive gene from both of you.

I have a sister and brother and neither of them have neurological problems. I also have 5 children but it is very unlikely that their father has the recessive gene, so I think I am the unlucky one. My neurological problems started 17 years ago with peripheral neuropathy but the ataxia only about 7 years ago when I was 62. I was diagnosed with polyneuronopathy, and then sensory ganglionopathy and then last year I was diagnosed with CANVAS after the genetic blood test. I had to wait a long time for the result. I lived an active life until about a year ago but now I can only walk with a Walker and my speech is slurring. Good luck to you and your brother coping with the ataxia. Physio can help.

[viv112]

I forgot to say my parents never had ataxia or any neurological problems and neither did their siblings, my grandparents or my cousins.

[wobblybee in reply to viv112]

CANVAS is Recessive…often resurfacing after being dormant in several generations.

[Butcherpete]

I have SCA 6, and nobody in my past suffered (only went back as far as my maternal/paternal grand parents. There is only my sister and I left now, and she has said no to any testing for her 19 year old son. Its their choice tho