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Spinocerebellar Ataxia
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Spinocerebellar Ataxia


  My mom and some of her brothers and sister have spinocerebellar ataxia.  So far,the doctor has not been able to prescribe anything to help with her falling.  She may go for 3-6 months without any major problems, but then she falls, has trouble with bowel/bladder control and seems to go downhill - never quite getting back to the point she was before she fell.  Her memory is pretty good considering she is 76, but her gait is very unsteady, as is her hand coordination.  She has just recently begun taking a daily regimen of acetylcystene and vitamin/mineral supplements.  Also, she is currently on Premarin and a bladder control medication.  Naturally, my brothers, me, and my cousins are concerned about the heredity of this disease.  My mom's father also had the symptoms of this but was never diagnosed.  He died around age 70-75 and was in a nursing home, without any cognizance or control of any bodily functions.  Do you know of any testing or research that is being done, or has been done, from which we might benefit?
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In general, ataxia is very difficult to treat. Medications tried so far have really had no great effect. Therefore, we try to use practical measures such as walking assist devices, speech/swallow therapy, etc.
It may be helpful to have a specific diagnosis. Many of the spinocerebellar ataxias have been given names based on the pattern of inheritance (for example, SCA-1 through SCA-7 are dominant). Other features such as vision, eye movements, palate movements, etc, contribute to the diagnosis. Having specific diagnosis may help warn about certain complications which could be likely. To the extent we can do anything about it, we address those issues.
Unfortunately, the state of medicine is not yet where we'd like it to be for this set of diseases. I know of no ongoing treatment trials, though there will be a major movement disorders meeting in October where results from other centers might be reported. You never know.
If you are interested, you may call 800 223-2273 and ask for neurology appointments (4-5559). You could be seen by a movement disorders specialist who can work toward a precise diagnosis if one isn't already known, and if one is possible. I hope this helps. CCF MD mdf.




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