Does anyone have this diagnosis and can speak about it?
Thanks
I have SCA8 if that's what you mean? If that's it and I can help in anyway get in touch and let me know or, if it's at all helpful, I have put some information that I have gleaned over the years from various online sources onto this website http://silversurfersrevenge.webs.com/sca8.htm.
regards
Charlie
Wow
that is great
Thanks Charlie
Do you mind if I share it ?
Alan. ROYGBIV
Wales
Thanks so much! This is an amazing resource you have put together.
If you need all those tests done to find out that information does it give an advantage to the patient to find treatments that will be helpful or will you just know you have sca8.
nfb said:
Thanks so much! This is an amazing resource you have put together.
Go ahead Alan, if you share with other's you might find someone out there it may help!
Alan Thomas said:
Wow
that is great
Thanks Charlie
Do you mind if I share it ?
Alan. ROYGBIV
Wales
Personal knowledge of symptoms you may or may not have that are similar is not conclusive proof of a diagnosis because many infirmities have similarities, so it is always better to have tests done. At least you'll have personal assurance from a medical expert. Take me for instance I've had an MRI scan, a lumbar puncture and genetic testing which led me to the knowledge of what I've got!
gelu65 said:
If you need all those tests done to find out that information does it give an advantage to the patient to find treatments that will be helpful or will you just know you have sca8.
nfb said:Thanks so much! This is an amazing resource you have put together.
Hi,
I’m 19, i don’t have SCAR 8 but i do have SCAR 17
SCAR8 is a Recessive Ataxia
Autosomal recessive spinocerebellar ataxia-8 (SCAR8) is a slowly progressive neurodegenerative disorder characterized by gait ataxia and other cerebellar signs, such as nystagmus and dysarthria. The age at onset is highly variable, and but most often is in the second or third decades.
https://www.omim.org › entry
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Do you need info for SCAR 17
Hi Beryal_Park
I don’t need info for SCAR17, i was just saying that I have SCAR 17 if anyone wants to talk or compare stories because not many people that i know have it.
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Did it take long to reach diagnosis, and how does it effect you day to day.
I don’t have an exact diagnosis myself, but my Neurologist suspects it may be Recessive. I have had testing but nothing conclusive found.
it did not take long as me and my parents had genetic testing in 2015. I was diagnosed at 9 years old, with SCA but we did not know it was recessive and the number of SCA. it does effect day to day with my balance, motor skills and my speech
Do you still live with your parents…
I live with my husband, and rely quite heavily on him now that I’ve progressed.
I do still live with my parents ( i’m 19), it is not progresive, I do lean on them time to time however I’m quite independent.
Does anyone else in your family have SCA?
No…I’m the only one. My mother was ill many years ago, with something unrelated to ataxia, but she had vision and balance problems with it. I used to obsess that I had something similar .
Initially I was diagnosed with Epilepsy (my symptoms started in the 1990s, and not much was known about Cerebellar Ataxia). This misdiagnosis lasted until I started having falls, then an MRI proved I had Cerebellar Atrophy. It was as recent as 2011 that the diagnosis was formally changed.
I’ve had testing, but nothing conclusive has been found, although my history of symptoms led my Neurologist to suspect a type of Episodic Ataxia (yet to be identified) may be the cause. She even suggested it could be Recessive…
You might be interested in this…
Under 30 with Ataxia Support Group
You must have Ataxia yourself and be ages 16-30 to join this group. Parents/Spouses/Friends of people with Ataxia are not permitted.
Lauren Sormani
Washington, DC
Phone: 908-577-6245
E-mail: lasormani@gmail.com
Facebook Group: Under 30 With Ataxia
Who are the 16-30’s Group?
The group is for anyone with ataxia aged between 16 and 30 years old, looking to meet others and make friends. The group is to support young people with ataxia and acts as a support network. Speaking to others who know how you feel can sometimes be the best kind of support.
People who know exactly what you are going through, who can offer support and who can be unashamedly honest with one another! If you’d like to join the private Facebook group, drop Leanna Coleman an email at communications@ataxia.org.uk and she’ll send you an invite to join.
I couldn’t imagine how frustrating it must be to go through that, hopefully you will have a definite diagnosis soon:) thank you for the info on 30 and under.
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I have SCAR8 (Spinocerebellar Ataxia Recessive). It’s also called ARCA1 or Autosomal Recessive Cerebellar Ataxia type 1. I’m not sure why different people refer to it differently. I suppose to confuse the rest of us!
It is a problem marked by a damaged protein syne1 which feeds a gene called SYNE-1 which in turn contributes to the function of the cerebellum. I think I got that right.
I had a discussion with Dr. Nicholas Dupré who discovered ARCA1 back in 2007. He was very helpful.
You may watch it here: Nicolas Dupre - ARCA1 - YouTube
I hope you’re having a good year so far! 
Hi Mark, welcome 
Thank you for posting information.
I’m said to have a tenuous link with Syne 1 (70%)…my Neurologist dismissed it…