How is this disease definitively diagnosed?
By symptoms only,
brain MRI and symptoms,
brain and spinal MRI, and symptoms,
brain and spinal MRI, spinal fluid, and symptoms,
or all of the above and genetic testing?
Hi Barb, I believe the short answer is Yes all of the above in some way can lead to a diagnosis. I also believe it depends of the type of Ataxia you have.
In my case Cerebella Ataxia - Episodic Type 2, my diagnosis has been made through clinical observation and medical and family history. Other methods for this type would include MRI and also genetic testing, which isn't usually done due to the cost, though I have read that both MRI and genetic testing are not absolute!
I'm sure folks who have different variations of ataxia will chip in and tell you how their diagnosis was made.
All the best, Lucy
Hi Barb 1228, i was diagnosed a few years ago after having had the symptons for around 15 years.i had already had three mri scans over the years but the gave me a full brain &spinal mri scan then goin to see another neurologist that was the first time a name was put to my problems. take care Frank'o
Oh yes, good point to mention Franko, my diagnosis took eleven years from when my symptoms had become more permanent!!!
franko said:
Hi Barb 1228, i was diagnosed a few years ago after having had the symptons for around 15 years.i had already had three mri scans over the years but the gave me a full brain &spinal mri scan then goin to see another neurologist that was the first time a name was put to my problems. take care Frank'o
Hi Barb, I was diagnosed in 2001 with SCA6 thru MRIs and symptoms. I recently had genetic testing for ataxia for several of the numbers including SCA6 and they came up negative. Through my own research, I indeed have the symptoms of SCA6.
I was under the impression that a brain MRI and symptoms was the source of a diagnosis. Genetic testing tells you if your condition was inherited.
My diagnosis came after observation and a MRI. I had 9 MRI's and one of them helped a specialist diagnose with his diagnosis. Was told that genetic testing would give me a definite diagnosis and tell if it was inherited or "unknown". The testing was to expensive and out-of-network of my insurance so have not done the testing. I have EA2. Reading my doctors notes he mentioned possible EA1 and SCA6. So far though the diagnosis is EA2 unless I get the testing. It really doesn't matter since there is no cure. Diamox is helping a little.
Hi Umigal,
I was told that Genetic testing was to confirm your ataxia and let you know what type you have. My ataxia is inherited. My Dad, Brother and sister have the same symptoms as well as acquiring ataxia at the same age. I've had 5 MRIs thus far for comparisons. I'm told that my cerebellum is stable but sometime I wonder.
I was miss diagnosed for quite a few years until I went to the Mayo Clinic in Minnesota. I think it's a process of illumination. I know for me I was given all the invasive tests and 37 blood tests to confirm that I have Sporadic SCA. Which isn't a diagnosis it's only a group of unknowns.
That is part of the reason why I know they don't always understand ataxia. Even though they have educated guesses I add my own because I know how my body is feeling having SCA. Because I was a hairstylist and they can't find hereditary I have to assume that it has something to do with toxin's that I handled and inhaled for years. I feel my guess is as good as theirs. So I take what they say into consideration, try it on to see if it can help and research and do trial and error also. They are only human beings also, so they can make mistakes and miss some things I think. So I use testing and their advise as just tools to help guide me through this journey.
I still have MRI's every 2 years now just to see if what I am doing is making any difference or not. My degeneration has stoped 5 years now and seems to be reversing a bit. So reading as much as I can on our brain it can compensate and rebuild Neron's and new passageways to achieve basically the same outcome just doing things differently.
What kind of things do you do Jeannie to help build the new pathways in your brain, is it through PT?
Jeannie Ball said:
I was miss diagnosed for quite a few years until I went to the Mayo Clinic in Minnesota. I think it's a process of illumination. I know for me I was given all the invasive tests and 37 blood tests to confirm that I have Sporadic SCA. Which isn't a diagnosis it's only a group of unknowns.
That is part of the reason why I know they don't always understand ataxia. Even though they have educated guesses I add my own because I know how my body is feeling having SCA. Because I was a hairstylist and they can't find hereditary I have to assume that it has something to do with toxin's that I handled and inhaled for years. I feel my guess is as good as theirs. So I take what they say into consideration, try it on to see if it can help and research and do trial and error also. They are only human beings also, so they can make mistakes and miss some things I think. So I use testing and their advise as just tools to help guide me through this journey.
I still have MRI's every 2 years now just to see if what I am doing is making any difference or not. My degeneration has stoped 5 years now and seems to be reversing a bit. So reading as much as I can on our brain it can compensate and rebuild Neron's and new passageways to achieve basically the same outcome just doing things differently.
I can only speak for myself, so here I go. I was diagnosed 10 years ago with Sporadic Cerebellar Ataxia (non-hereditary?/unknown cause). My first symptoms were trouble swallowing and going down stairs. It took about a year for me to finally go see my doctor, as I had a hard time believing anything could be wrong, as I had always been so healthy. I finally saw him and he ordered an MRI of my brain, as he was looking for obvious causes such as a brain tumor, stroke or MS, etc. The radiologist said my cerebellum showed signs of atrophy. Therefore, my doctor sent me to the dept. of neurology at the University of Michigan Hospital. I saw a team of neurologists, who send me for other tests (nerve/muscle) and blood work. I also had a sleep study and found out I had sleep apnea, as many people with ataxia do (I use a C-Pap machine when I sleep). Anyway, through a process of elimination I was finally diagnosed, and the rest is history.... ;o)
Thank you for all of your replies. I hope you all had a nice thanksgiving weekend.