Undiagnosed Ataxia

Hi My son is 4, and has an 'Ataxic gait', but he has no diagnosis.

He has had lots of tests (2 MRI of brain & spine, lumbar puncture, ataxia gene panel, chromosomes, bloods etc) all which are normal. We are running out of things to test, we are awaiting the Genome 100k clinical trial which takes years. He is under a team of specialists (paediatricians, metabolics, neurologists, genetics) He receives speech therapy, physio, hydrotherapy. We are awaiting a referral to the balance clinic at great ormond street.

His history: We did have a difficult birth, but all was well, aside from colic & reflux.

He met all his milestones until the age of 1, he had several bad viruses and was unwell.

I noticed his development plateaued, and at 18 months when he wasn't walking we took him to the GP. thats when all the tests started.

He finally walked on his own at 33months, and after a slow and steady time he is now doing well. He is making great progress and now walking unaided, he is just very 'wobbly' and falls alot.

He had two small holes in his heart (PFO & VSD) which have now closed.

He has hypotonia, hypermobility, brisk reflexes.

He has a mild speech delay.

He has Strabismus (eyes turn inwards)

I cant ask for more, in terms of his progress, the therapies and help he receives, and the doctors trying to find a diagnosis. He even receives DLA for high mobility.

But for me, Id just love to know, so we can find out what caused this, a diagnosis and prognosis!

So, does anyone have Ataxia without a diagnosis?

Thanks x

13 Replies

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  • Hello, I diagnosed myself because GP wouldn't take much notice of my concern. I have an American Medical Encyclopaedia so that helped me find my problem. But at 4 years old, they walk unbalanced anyway don't they? Arms out and legs wobbly and out of balance. I watch little kids playing in the play area from my window and most are unsteady

  • Thanks for your reply. He definitely has a walking and balance problem, they just do not know the cause.

  • Hello, we have no diagnosis for our daughter. She is 6 became unwell oct 2015. Within 3 weeks she never walked again. We are also part of the Genome study and have gone through many of the tests you mentioned. I completely understand your needs to find out what the cause of your sons conditions are. We was told that their is a strong possibility we will never get a diagnosis although at one point a type of cerebellar ataxia was mentioned. We are just trying our very best to make the most of life. And luckily for us we have the most determined and inspirational daughter that makes us get a grip when we may dare to wobble! I wish I could offer help and more information for you. All I can say is that feel free to fire questions and let off steam in my direction if you need to as I am in a very similar situation to you. Best wishes to you and your family x

  • Thank you for your reply. What was she unwell with?

    We also thought Cerebellar Ataxia, but both his MRI brain scans have been normal.

    Where abouts are you from? We live in Kent, near London.

  • Hi, I live in Brentwood, Essex so not far from you. It all began with a earache believe it or not. Our 1st mri they told us was fine it was only when a new set of eyes looked at it that everything changed. My daughters cerebellum has shrunk and is surrounded by fluid. We are under the local hospitals and gosh. We are also trying to get another opinion altbough I know everyone is trying their best. X

  • It's very difficult to deal with this when you don't have a diagnosis. As a child, I had a terrible gait, was uncoordinated, and made fun of, because I couldn't walk straight. It sometimes takes the doctors a long time to diagnose, especially when many factors have to be looked at, in order to make the diagnosis, such as familial genomes, hereditary history etc. My best advice would be to continue with testing and try to be patient. Also, it doesn't hurt to get different doctor's opinion's, sometimes. In my case, I was eventually diagnosed with Ataxia, but not until I was an adult. Best wishes to you, Mango1983.

  • Thank you for your reply.

    What type of Ataxia do you have?

    It is a long process, and its only been 3 years. x

  • It turned out that they suspected I had childhood non-paralytic polio that affected my legs, because I had to wear braces at times, when I was a kid. The Ataxia has been diagnosed, by a neurologist as part of a neuro-degeneration in my brain, that has now led to a diagnosis of Parkinson's Disease, by the movement disorders specialist neurologist. Currently, I take levodopa 3 times a day.

  • CAN ANY RECOMMEND ANY ATAXIA SPECIALISTS FOR CHILDREN? I DONT MIND PAYING & GOING PRIVATE. HE IS UNDER NEUROLOGY, METABOLICS AND GENETICS AT ST THOMAS LONDON ALREADY.

  • Hi my name is chris and I am 32 years old. I kind of received my diagnosis yesterday after about 5 years of testing. And they said it was more than likely ataxia associated with the autosomal recessive sacs gene, which normally effects infants and young people. It affects my balance and co ordination, also I have to see an ophthalmologist with my eyes slowly moving in a ratchet movement . I thought this mite be of some use.

  • Thank you Chris. It is such a long process. Weve had 3 years of tests.

    Henry is also under Opthalmology, for strabismus (eyes turn in) and nystagmus (shaking of the eyes)

  • Yes that was the name of the problem I have (Apparently) nystagmus. I know as a parent how you must feel, as my son who is 9 has medical problems associated with his downs syndrome, but they can't link it to ataxia. I met a genetics person in oxford who I had to travel from Burton upon trent for my appointment for.

  • My daughter is 9 and has ataxia, she also went through the usual batch of testing you mentioned and all came back normal, she had the basic genetic testing which came back as normal. She has nystagmus, delayed development, and hypotonia. we took part in a research study called the Dechiphering Developmental Delays (DDD) Study where there took saliva samples, from us all, about 1.5 years later we were told that they had found a mutation in one of her genes the (SCN8A) gene. this was later verified in the NHS lab, since having a diagnosis, we still have no information, the only information out there relating to the same gene, is for a gain of function which causes epilepsy, but she has a loss of function which causes her problems.

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