No announcement yet.

new diagnosis!

  • Filter
  • Time
  • Show
Clear All
new posts

    new diagnosis!


    I finally got a cancellation to see my neuro who had consulted with someone who knew about dystonia also.

    I had ataxic gait with difficulty getting and keeping my balance walking as a symptom from way back in 2003 but the MRI didnt show any degeneration of the cerebellum. I then developed more difficulty with speech and fine motor so they thought it must be a progressive form.

    I never developed the constant tremor which threw them off and several people questioned a diagnosis of Cerebellar Ataxia but in the absence of anything else they thought it must be that due to Hypothyroidism (I was born with it and had problems converting T3 as my ataxic symptoms were first showing).

    After I hit 40 I started to have more involuntary movements my hands would flex and start to move up with effort of speaking. My arms and legs would temporarily lock in position extended (like when you stretch out when yawning). My back would arch after sat for a while and I could only get comfy semi reclined and there was a stiffness in my muscles when therapists etc tried to push against them or move them.

    My Neuro thought Dystonia maybe possible as my symptoms were more closely mimicking someone with Athetoid CP than someone with a constant parkinson-type tremor that people with Cerebellar Ataxia's get.

    The only adult onset conditions that maybe mistaken for Athetoid CP are Adult-onset Dystonia and Huntingdon's Chorea. I was cleared for Huntingdon's.

    As the Ataxia had been my first symptom years before the dystonic movements kicked in at first we wondered if it could be one of the Cerebellar Ataxia's with secondary dystonia. They are extremely rare but my muscles didn't show a relevant degree of atrophy if that's what I had had for the last 8 years, even taking into consideration that I do physio everyday.

    My symptoms seem to have stabilised although I have bad days and worse in winter than summer overall there seems no more progression. Although they can't rule out that there may be more in future as my body naturally ages, if I stopped daily physio or got pneumonia or something that severely weakened my whole system.

    My cerebellum hasn't shrunk although there is clearly a problem with messages getting to the muscles from the brain. My arms and legs are affected to a significant degree that it makes daily living a challenge, it is now been classed as 'Ataxic-Dystonic Quadriplegia' as it does describe my symptoms better than cerebellar ataxia with secondary dystonia, as there is no signs of cerebellar degeneration. (Quadriplegia just means 'all 4 limbs' are affected to an equal degree, it does not mean 'paralysed')

    The combination of both means some effects from each condition are cancelled out by the other ie stiffness from the dystonia cancels out the tremor from the ataxia, and the ataxia slightly weakening muscles means they can't lock out for long when the dystonia tries to lock my arm in bent position, the involuntary movements also disrupt this signal so it only happens for a few seconds rather than my arms been permanantly contracted in that position which is what happens in primary dystonia's.

    The stiffness in legs also means I have the strength in legs to stand for short while, however the balance issues from the ataxia and the involuntary movements in hands means I sometimes unintentionally let go of what I am holding onto. I can only stop hands flexing for a short while, if keep trying to keep hands clenched tightly to keep hold of something then the intention tremor from the ataxia takes over so have to let go.

    It does feel a little like a life sentence has been lifted or reduced!! If I can keep fit and avoid major illnesses they are not expecting my condition to progress any further beyond this point which is a huge relief to me!

    I thought I would explain this in case anyone else out there found they had the same symptoms and their condition was also still undiagnosed.


    Kati, I am very glad to hear that your diagnosis has been zeroed-in on, and that you are feeling less anxious about the future! You are always so generous to share your experiences so that others can benefit from what you've learned. I send you every good wish for continued fitness and general good health, and a complete stabilization of your symptoms!
    MS with cervical and thoracic cord lesions


      I echo Bonnette....glad you were able to finally get the diagnosis and thanks so much for sharing as I am sure it will help someone someday.
      Take care of yourself.


        Thank you it is a big relief, shame it took 8 years to get here but at least we got there in the end.

        I'm purchasing a passive trainer to help keep my arms and legs strong and so I can burn off more calories as I'm struggling to lose weight as can't move quickly enough (voluntarily) with co-ordination without triggering muscle spasms, to do most sports.

        Hope you are both well and doing ok.



          Hi Kati,

          I'm very happy to hear that your condition is stable for now, and I hope with all my heart that it will remain so for a very long time to come.

          - Sara


            For what its worth, I've had "essential tremor" all of my life and was Dxed with dystonia in my neck in my late forties. My neuro at the time prescribed Klonupin, 1mg twice daily, and both symptoms have been under control ever since...I'm now 66.

            Klonupin is addictive...I'm now doing 3mg twice a day...and I also have been dxed with SPMS (I'm dubious of that, since extreme spasticity didn't hit until I was 62, but since it was the Mayo that said it, I ca't find a doctor willing to look elsewhere).


              I'm not keen on the drugs.

              My neuro told me Baclofen may make me over floppy and I know someone else with Ataxia that had this problem he felt very unstable as his muscles were so much more floppier.

              I've found with this unique combination of both some sensory tricks work and sometimes i can get one thing to cancel out another.

              I use heat to relieve stiffness and exercise has helped. I try not to use to many painkillers but if I have to go out and can't get home soon to lie on hot water bottles or something I usually have some painkillers on me to take the edge of until I can get home.

              I did use TENS but recently this has resulted in muscles going into spasms so had to stop using machine. Exercise is a fine balance too... too much also seems to be sending legs into spasms but a small amount reduces stiffness.

              I am looking into alternative things like herbs etc that naturally relieve involuntary movements or stiffness, which I find don't usually have the side effects that the drugs do.