I've got a question of concern, that I would like to ask members of the group. I was diagnosed with SCA5 Ataxia at the age of 45 back in Sept of 2013, but I was told by my Neurologist that I actually had it for 10+ years(around the time of 2006 when I felt I started to notice, what I was told was signs of symptoms?). Now, eventhough I did have a brother with MS that past away. I was told, that my SCA5 was hereditary. Now, that's where the question of concern comes in. Did I get a gene from Mom or Dad, that was pasted down to me and only effected me in this manner?(cause, that's what I was told?) I ask that because they've never been diagnosed, or shown any noticeable signs are progression of Ataxia. Eventhough I have been diagnosed for about a year now, I still have questions and concerns that have went unanswered & explanined in a matter that's satisfying to me. So any help you could possibly give, would be more than appreciated. Thanks.
I have Sca7. I was diagnosed in 2006 2 years after my daughter was diagnosed. My father was diagnosed in 2005 but his symptoms could have been put down to old age. My grandfather was never diagnosed and did not show any symptoms. We know that at least 2 of his brothers had SCA7. One lost his daughter whenshe was 26. I lost my daughter this year and they put Complications due to SCA7 on the death certificate.
it is not unusual for children to be diagnosed before their parents or for the children to be more severe than their parents. Google Anticipation for genetic disease you will find some info.
The best course of action that I can think of, is to live life to the full. Do what you can while you can.
Thank you very much breddersboy, for your reply:
It really helped in answering, some un-answered questions I've had for awhile now. That's, what I like about this support group. I have gotten more answers & helpful information over this website, then from asking my Neurologist & doctors. Since I've been diagnosed, & have been trying to get help with questions & concerns of mine. I'm really starting to think that eventhough my Neurologist & doctors have been helpful, there are questions & concerns that they just don't now or even aware of? So thank you again, for all your help & support.
breddersboy said:
I have Sca7. I was diagnosed in 2006 2 years after my daughter was diagnosed. My father was diagnosed in 2005 but his symptoms could have been put down to old age. My grandfather was never diagnosed and did not show any symptoms. We know that at least 2 of his brothers had SCA7. One lost his daughter whenshe was 26. I lost my daughter this year and they put Complications due to SCA7 on the death certificate.
it is not unusual for children to be diagnosed before their parents or for the children to be more severe than their parents. Google Anticipation for genetic disease you will find some info.
The best course of action that I can think of, is to live life to the full. Do what you can while you can.
Dear SCA5,
Roughly half of your affected side direct ancestors will be carriers. If they have it the severity is variabe, depending on how divergent from normal repeats of a gene pattern are. So if mildly disposed you may not realize they are suffering unless you observe carefully. If you want to do some investigative work of your own.See if you can notice any of your relatives with same symptoms.
Yes, SCA 5 is hereditary...you always had it. You were born with it. Yes, it was passed from mom or dad.Chances are your brother may have had it, but ataxia has often been misdiagnosed as MS. Symtoms can manifest differently at different times, hence the variation.
A lot on this site pool their knowledge and experiences.That is why it is so useful.
As for me,I have similar questions SCA 5.
Steven,
SCA 5 is one of the dominantly inherited ataxias. That means that only one of your parents needs to have the gene for you to get it. Also, it can be sporadic, which means, much more rarely, it is not inherited at all but that you are the first one in your family to have it. If it is inherited you need to know a few more things: every person has different symptoms, even from generation to generation and brother to brother. The symptoms may also be so mild that you do not notice. Though the symptoms of some ataxias are treatable, they are not curable. I hope this gives you enough information.
Norbert
http://www.rightdiagnosis.com/s/spinocerebellar_ataxia_5/intro.htm
http://www.omim.org/entry/600224
http://www.neurologyadvisor.com/movement-disorders/section/4304/?DCMP=OTC-NA_bing2014
I found a few links on SCA5 -I HOPE IT HELPS
It is very likely that the brother was miss diagnosed and had SCA not MS. Do you know if grandparents or other relatives may have had any issues, it can skip family members!
SUSAN
Hi, I am 47 & new to the site but have SCA5 as well as my father
They diagnosed my dad with CSA2 and I recognized the symptoms as being me. I got tested and I was missing the gene. My son and my brother haven't showed anything. The neuro said not to get tested unless they started showing symptoms.
Hi Steven, I too have SCA 5 and would love to talk if you are still out there. I am new to the site and was diagnosed in 2014 thru DNA/Genetic testing ordered by neurologist.