I am new here. My husband was just diagnosed with cerebellar ataxia and he is still going through the screening process to determine the cause of his cerebellar atrophy. His symptoms include some unsteadiness and slightly slurred speech, both made worse by fatigue and stress. At this point he has been tested for many of the most common causes (b12, e, celiac screen, etc.) and genetic testing is still out and pending. His doctor suspects a SCA but I don't see any evidence in his family so I want him tested for every possible nutritional cause. I am wondering if anyone can tell me what screening tests I should make sure he has? For example, his B12 blood test was normal but I read somewhere that you need a blood/urine comparison to determine how much is actually being absorbed by his body? I think B1 should be tested, but hasn't been yet. I have read about Q10 deficiency so I think that should be tested... I would like to go to his next appointment with a good list in hand to make sure that he gets all required screening, including blood/urine where needed. His physician is excellent, but I am trying to be proactive and make sure we don't miss anything that can help halt the progression of this.
Thank you. I am trying to catch up on all of the discussion here. There is such a great amount of information. Cheers!
I don't want to sound negative here, but your search for an answer may not bear fruits. I was diagnosed with progressive cerebellar ataxia about 8 years ago and despite MANY tests I still have not been given a prognosis.
I have had the following tests done:-
2 * M.R.I.
1 * X ray
1 * Ultrasound
30+ blood tests
C.T. scan of the abdomen
Muscle biopsy
SCA tests 1,2,3,6,7,17
D.N.A. testing
Multiplesclerosis testing
10. Lumber puncture
11. Chemical Brain scan
12. High resolution M.R.I
13. Frederichs ataxia testing
all to no avail. I am currently undergoing some experimental genetic testing and have sent some blood samples from myself and both my parents to a research lab in London, though I may not find out any results - but you have to try!
The lumber puncture was particularly painful (I physically cried and I consider myself quite resilient where pain is considered) so would recommend that as a last resort!
As i understand things, the dna genome is the most imformational, but even that may leave you wondering. I will suggest comparing your thyroid test. You have a thyroid stimulus (TS) reading where a high reading means that the thyroid is being instructed to produce more thyroxine (T). Be sure to get the proper or current standards. They changed recently. If your T is high , you don't need the TS. In any event, nothing will be definitive, and there is no recognized cure. Still, we do what we can. -Silky
I don't want to sound negative here, but your search for an answer may not bear fruits. I was diagnosed with progressive cerebellar ataxia about 8 years ago and despite MANY tests I still have not been given a prognosis.
I do understand what you are saying. Although I know there is no "cure" I just keep hoping that he might just have a nutritional deficiency so I want to at least have all relevant vitamin/mineral tests conducted. We are waiting on the SCA testing, but with no family history that doesn't seem obvious. I do know, though, that for many reasons one of those may come back positive. If it doesn't, though, I just want to know which nutritional causes we should insist on having him tested for. I'm sure it seems futile, but right now I think we just need something hopeful to focus on. Thank you for your long list. I know he is also not very interested in the lumbar puncture, and his doctor has not promoted that at this time.
As i understand things, the dna genome is the most imformational, but even that may leave you wondering. I will suggest comparing your thyroid test. You have a thyroid stimulus (TS) reading where a high reading means that the thyroid is being instructed to produce more thyroxine (T). Be sure to get the proper or current standards. They changed recently. If your T is high , you don't need the TS. In any event, nothing will be definitive, and there is no recognized cure. Still, we do what we can. -Silky
Thank you. I was also interested in testing him for parathyroidism based on a low alkaline phosphatase test result, but his doctor doesn't seem curious about that. I saw it on the list of causes somewhere and remembered I read something about that being linked to the low alkaline phosphatase. I wonder if anyone else has any thoughts on that? Anyway, yes, we do what we can. For now all I can do is try to understand all the possible causes and make sure that he gets tested for each of them. I think it makes me feel that we are at least trying something....
Ive been tested several times. A good diet and vit's...I'm getting stronger...
rg
Right now that is what we are focusing on while we wait for the next neuro appointment. Vitamins, exercise, gluten-free, no alcohol... hoping that something has a positive impact.
I am sorry to hear about your condition. I have been reading a lot about MSA and I know it very debilitating. I know with the SCAs some progress more quickly than others, also. It gets to a point where you start 'hoping' for lessor evils, doesn't it? That's how our world has changed in the past few months, at least.
Where I live we can get access to our lab results online if we go to a certain lab. It helps to track exactly what tests my husband is getting and research anything that is flagged, in particular. We do have an excellent neuro and I have faith in him, but I think it's still so important to be pro-active and informed, which is what I am trying to do. Thank you, and I wish you well.