My Next Step

After reading everybody's post on here,i was wondering if anybody could help me further on what there thought's are.

I was told in 2013 that I possibly had Charcot Marie tooth Disease this was negative. Then I was sent to Birmigham Hospital and I was told that I might have Freiderichs ataxia this was negative. I have had blood samples sent to Bristol lower limb specialists with no answers, Sheffield ataxia centre with no answers and now im expected to transfer to oxford genetics for them to have an attempt to find out whats wrong. I just at that point where im 32 and thinking times passing by and maybe im missing vital information.

10 Replies

  • Have you asked to see the results of your various visits?

    I have been attending Oxford Ataxia Clinic for about eight years. I only have a diagnosis of idiopathic cerebellar ataxia, although other members of my family have been affected, therefore they are still searching for the gene.

    Research is ongoing and new genes are being still being found.

  • My MRI showed to be normal, other tests have been negative. My parents have been tested for being a carrier as we have never heard of it at it showed my dads blood was ok but my mums blood found out she could be a carrier of some type of herediatary ataxia, but my mum still seems to disagree for some reason, but ive noticed her and my dad have a pes cavus foot in which I also have.

  • You've got them puzzled haven't you😉 The general thought seems to be it's genetic somewhere along the line. You may have read I posted that my link is thought to be genetic🤔 Supposedly, each of my parents must have carried a specific mutant gene to produce my particular type of ataxia, this link was discovered due to DNA testing. They'd both passed by the time I was diagnosed but coincidentally my Mother had experienced eye problems, poor balance and falls for several years prior.

    But, both parents must be carriers of the gene, to prove there's an Autosomal Recessive link, so.... 🤔xB

  • Have patience. It sometimes takes a long time to properly diagnose Ataxia. For me, I got wrong diagnoses and, finally, after about 10 years, of seeing several neurologists, and going through many tests, I was diagnosed. Importantly, you need to be seen by a well qualified neurologist, who is very thorough in their diligence to help you. Best wishes!

  • Hi.

    Don't despair.

    I'm 46 and have seen quite a few neurologists over the years (since 2003 or thereabouts) including London Neurology Hospital many years ago. I stayed in the London neuro hospital too in 2007. I was diagnosed with hereditary cerebellar ataxia but the exact mutation hasn't been identified as yet. Friedrichs test was negative . I see 2 neurologists now. 1 nearby (for my annual check) & ataxia centre in Sheffield. I've had lots of testing. Even ataxia telangestasia by an expert in Birmingham. Negative result. My neuro physio thought I may be suffering from charcot marie tooth disease but the neurologists don't think so. By the way I also have pes cavus. My mum has & my dad did.

    I know it's difficult for you not knowing. Keep plodding on & remember it's extremely difficult to find the exact mutation. More tests are becoming available so it may be that if you are tested again you may be provided with an answer- who knows?!

    Stay safe.🤗

  • Dear Chris, I have Sporadic Cerebellar Ataxia (atropy of my cerebellum, unknown cause, progressive, symptoms 24/7), diagnosed thirteen years ago, although I had very minor symptoms starting about eight years before diagnosis). Over the years, I've had genetic testing for all the known recessive and dominant ataxia's, which was negative. I've even had exome testing, which was inconclusive. My neurologist thinks all ataxia's are hereditary, although no one in my family, as far back as we know, has/had ataxia except me. My neurologist suspects the gene has not been identified yet. So where does one go from here? My first neurologist, who retired, always told me "someday the cause will be revealed". I'm 63 years young now and maybe I'll know in my lifetime, maybe not...,ha! My best to you..., ;o)

  • Hi Chris,

    sometimes neurologists make mistakes - my brother was told he didn't have Friedreich's Ataxia and then he was sent a letter to say they got it wrong he did have! This made my testing easier because I was able to take his genetic report to the Dr and ask them for the same test. If its a recessive genetic disorder your mum and dad will be carriers and blood tests from them help to confirm your diagnosis. It can take time as genetics is complicated but you are seeing the right people - good luck!

  • hi Chris.. how did it start and what are your symptoms now ?

  • Hi, sorry for the delayed response. It started when I was around 27, I am 32 now I have a slight balance problem when I walk and I get fatigued alot

  • hi Chris . What were your initial symptoms and what difficulties are you facing now ?

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