Ataxia diagnosed - neurologist wont test for genetic link any help

Hi my husband has just been diagnosed with ataxia, not sure if its genetic, neurologist thinks it is his epilepsy medication but i am not so sure as his toxicology levels aren't abnormal.

His dad has club foot, heart problems, congenital eye problems, gastro issues, balance issues and my husband has congenital heart issues, strange looking toes, rare optic disc pit, epilepsy, detached retina, glaucoma, and yet the neurologist wont test for genetic links as father isn't seeing a neurologist.

Is it worth getting a second opinion, where would i go?

8 Replies

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  • Hi rankin1st

    I am sorry about you husband's new diagnosis. It sounds like he has enough to contend with without adding ataxia to the mix.

    You are absolutely entitled to ask for a second opinion. Ataxia is a complex area and I think your husband would benefit from seeing a neurologist who specialises in this area. Of course a second opinion might agree that the ataxia is secondary to the epilepsy medication but I think it important to be as sure as you can be of the underlying cause.

    There are three ataxia accredited centres in England (Newcastle, Sheffield and London) which I think it would be best for you to approach. The contact details of each can be found in the following link-

    ataxia.org.uk/Pages/News/Ca...

    Referral can be either through your GP or neurologist. If you have any problems please contact Ataxia UK for help by telephoning or emailing the helpline 0845 644 0606 / helpline@ataxia.org.uk.

    Best wishes

    Harriet

  • Hi Harriet, that is really helpful thanks so much i will follow up with the neurologist next time we see him, we are hoping it is just secondary, but as you say want to rule out other possible causes.

    Lisa

  • Hi I've had problems with balance shakes slurred speech was seeing a neurologist with not much luck then got to see specialist at royal halamshire Sheffield they are wonderful

  • I understand that epilectic medication can cause ataxic symptoms. Indeed, the medication I take for Neuoralgia is more commonly prescribed for epilepsy and if I have to increase the dosage I find myself totally incapacitated due to the fact that I do have genetic Spino Cerabellar Ataxia for which there is currently no cure or tratment. I do hope that your neurologist ii right in diagnosing your husbands ataxia as a symptom rather than a neurological disorder. However, you might want to ask them to explain things a little clearer.

    I'm not an expert, i can only speak from what my neuorologists have explained to me?

    Kind thoughts.

    Mel

  • I read a few years ago that certain epilepsy meds can cause ataxia. Sorry, I don't remember the name of the specific med, but I remember it was to treat epilepsy.

  • Was it epilim (sodium valproate)

  • Thanks Barb, it was oxycarbimazipine and lamotrogine that he was taking now been moved onto zibinix but unfortunately they can all cause attaxia according to the info i have read. thanks for taking the time to reply appreciate that

  • I got a leaflet from Atacxia uk explaining how you go about genetic testing as I have cerebellar ataxia but I also have hydrocephalus and an acoustic neuroma. I asked my family about the testing and they said ( all 4 of my children who also have children )whether they want to be tested but because of the late onset of mine they all said they would rather not know. If you have the test and it is positive it can effect insurance and all sorts of things. My husband died of a cancer that seems to be genetic as his father and grandfather died from the same type of cancer and we had the discussion about genetic testing but they felt that if it was positive it would affect all areas of life - getting a mortgage , insurance etc so they decided against it - just watch out for any odd symptoms and see the GP asap . look after yourselves NOW. love Sylviaxx

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