So I am considered undiagnosed sca2. I’ve had an MRI done to check for MS which I don’t have, but the doctor said something is wrong. My dad was undiagnosed sca2, but his sister has been genetic tested diagnosed sca 2. My brother is a radiologist and looked at my MRI. He said my cerebellum is small but I’d need to get a blood test for a diagnosis. Since then I’ve been to a doctor at Emory University’s movement disorder clinic. And that doc looked at my MRI, did some tests with my gait and etc., then took our family history. He said he was pretty certain it was what my dad had…which would be sca2. Because his sister has type 2 which mean he would and whoever else in the family who had it, it’d be type2. So for those who have sca2 when did you show symptoms? What symptoms were you having? What treatments work for you?
I have SCA2 and in my family the age of onset varies wildly. I have a second cousin that had over 200 repeats when she was born. She was dead by 18months, then I have another cousin who had 36 repeats and her age of onset was 50. She’s still alive at 72. Knowing you repeat size can give you a lot of information although with SCA2 it isn’t exactly correlated. Get tested then talk to Dr Wilmot about what it means. Then come to our support group meeting this Sat. at the Emory rehabilitation bld at 1pm. If you email me private I will send you more info. ■■■■■■■■■■■■■■■■■■.
i am undagnosed also but its in family. noticeed i had some thing at 52 now 66. i hve walking problems. some vision.
no mmedcine seems to help. i am on baclophen. does it help *(i don't know.
john
My daughters type of SCA is undiagnosed as the tests have not been developed for it yet. She started showing symptoms at 11 months of age. She walked eventually just before she was 3 but was very wobbly and fell often. She has shrinkage of her cerebellum and spinal cord on MRI scans. The doctors said she wouldn't be walking by the age of 12 but she is npw 17 and with splints on her legs and a walking stick she is able to still walk a little although she falls over several times a day and has lots of pain. I wish we knew what type she has. She is the only one in the family showing symptoms, my older son is ok. Both of them are on the Autistic spectrum as well. I have Finromyalgia and balance problems but the doctors don't think it's related to my daughters condition. I don't think we'll ever find out what type she has. I wish you all the best in getting the answers you need and hope that the progression of this awful condition isn't too rapid for you.
Best Wishes
April
Symptoms were movement imbalance and walking funny and scared to go down stairs without a handle, I also suddenly could not wear heals or dance
Rehab or Physio ie core excersises, strengthening the back, toes, wrist excersises etc are all so helpful
Fahareen
Wow, intense stuff. I’m about to be 30, but fell and this whole process started about age 28. I get light headed and off balance a lot, but don’t use aid while walking except I do hold on to stuff sometimes. Lots of people have to tell me to repeat myself, I struggle ALOT with muscle spasms and twitches. I am eager to see my neuro June 17th. She’ll follow me since she’s only 30 to 40 mins away. This is the first time I’ve seen one with the exception of Dr. Wilmont once or twice and the MS doctor. I think this is weighing on my heart and mind a lot more than I realize.
My daughter Cassie has sca2 and started showing when she was about 18, she is 23 in June. I would say she is unsteady when turning but walks ok. So far her speech is fine but she has to hold on going downstairs and I have seen her twitch in her sleep. It is a complete mystery as to where this came from as no family member has shown any signs including my son Gary. She goes to the gym 5 times a week for an hour and still works 4 to 8 hours a day and is constantly standing. She eats well and stays slim. All I can say is keep moving.
My husband has SCA2 and started showing symptoms at 29, unsteady gait, slurred speech. He is now 65 and in a wheelchair, speech very slurred, and has some issues with swallowing. Our daughter, now 37 was diagnosed 2 years ago, but had started showing the same symptoms around 33. We still think my husbands was caused by agent orange, as he was in Vietnam Nam for 18 months where it was sprayed heavily. My daughter also goes to Dr. Wilmont at Emory, although he has few suggestions. She works out twice a week with a trainer and just bought a treadmill and tries to eat organic. She has 2 children that we worry may one day develop the disease, my other daughter 36 is ok. Nasty disease.