Plopony

I have been diagnosised with hereditary Spinocerebellar ataxia a month ago. I had been diagnosed with ataxia 4 years ago. I had chronic Lyme's disease which we thought caused ataxia and falling. When I went into remission for lymes after 8 years, the ataxia proceeded to get worse. My neurologist had ran all the test except the genetic test. He sent me to another neurologist who I've seen twice. On the second visit, without genetic testing, with only a physical exam, he told me I had hereditary Spinocerebellar ataxia. I did have an aunt on father's side,who would be 93 today, she had abalance and walking problem. We would say she walked like she was drunk. Her daughter is starting to have the same symptoms

MY Question is how does he know I have Spinocerebellar. Ataxia without a genetic test . I was so shocked I forgot to ask him this question.

8 Replies

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  • Hi Plopony... I have no idea. It sometimes seems that these Neurologist guys just make it up as they go along... very mystical, very superior. Joking apart, it is a strange one - perhaps they still had some of your previous blood samples. Unlikely though. I suppose you could assume that his experience of interpreting family history, namely, your Aunt & Cousin's difficulties gives him sufficient confidence to call it as he sees it.

    I haven't had a confirmed diagnosis but my late mother had, sadly, numerous symptoms spanning the last 15 years of her life which appeared to be neurological in origin - except her GP couldn't see that and was fixated on the Thyroid. That's another bitter, bitter story - a catalogue of endured misery that I might air on here to see if forum opinion can match her problems to the profile of Hereditary Ataxia or to that of a person with hyperthyroidism.

    Enough I say (I digress, sorry and good luck to you, I'm sure you will get a more informative answer to your question as soon as some of the old hands on here get to grips with your question. Take care... Cubby.

  • Thank you! 🐴😊

  • To be on safe side get the genetic test done. This will help in planing which exercises best suites you, you can also Google on BalanceWear belt

  • Thank you! 🐴😊

  • Hi Plopony

    Thank you for your question.

    Neurologists are doctors specially trained to diagnose and treat neurological disease of the human body. Each diagnosis can be characterized by a collection of symptoms. The majority of diagnoses can be made by taking a good history form the patient and performing a physical examination. Good history taking involves asking a lot of questions to elicit symptoms and the nature of them, and particularly in the case of ataxia a thorough family history. Doctors make diagnoses by putting all the symptoms and information they have gathered together to try and create a bigger picture, the complete bigger picture being the diagnosis. It is like a jigsaw.

    Doctors then carry out further investigations, for example genetic tests, to confirm or otherwise their thoughts following history and examination.

    Spinocerebellar ataxia (SCA) is a collection of symptoms. After taking a history from you and examining you he/she will have put all the information together they gathered and concluded that you have a SCA. From what you say the neurologist suspects a genetic, heridatary cause. There are many different genes that can be implicated in the development of SCA. You will most probably require further investigations to elucidate which gene is affected in you.

    Best wishes

    Harriet

  • Thank you

  • Hello.i went to see a neuroligist as well as my dad and brothers have got atacia.also my uncle.went through the physical tests.walking.reflexes ect but said there was no need for blood test.genetic testing as he said he was certain i had sca 17.Steve.

  • Thanks🐴

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