What's going on?

General
1

Hey all. Now before I describe anything, let me just say that I have had Cystic Fibrosis since birth and diabetes for well over a decade. Now my biggest concern is that my mother is wheelchair bound and has heriditary ataxia. Almost all of her siblings have some form of it. Now I have severe gait/balance issues and went to several orthos and it seems that I'm missing a bit of cartilage in my hips since birth, I also have a severe leg length discrepency which I must wear a shoe lift in my right shoe.

I also went to a neurologist 2 different times to try to rule out ataxia. I have had 2 MRI's of my brain 3 or 4 years apart, and they were both normal. But the last time I went to an ortho, he did a physical exam, and concluded that I had extremely weak glutes, hip flexors, and pirifomis muscle. I am doing various stretches that target the afformentioned muscles and it helps a bit, but it's not a "cure."

The thing is, in the past when my blood sugar was high or low it really didn't bother me much at all, because at the time, my muscles were adequate. But now, it really afftects my gait if my blood sugar fluctuates at all.

I did find out that 5 hour energy helps alot, but it gets pretty expensive. I practically live off of that!

Does anybod have any idea why I lost all my muscle strenght in my lower body? I have researched that being on PPI's like Zantac, Pepcid, etc for a long time, decrease your mangnesium level and magnesium is essential for your muscles. Calcium supplements and antibiotics also leech magnesium. I have been on a PPI for over 30 years and I did take calcium supplements and am on anti-biotics often. But I do not think that all of this would cause the type of muscle loss that I am experiencing. I know if you don't use it you're gonna lose it, but I work manual labor 32 hours a week, it's not like I just sit around all day!

I am at a loss for my muscle weakness. I really have no other symptoms except the gait. Any help would be appreciated.

2

My husband had several relatives with ataxia - grandmother, uncle and 3 of his 4 kids, mother and definitely 2 other siblings. For years we dealt with no doctor being able to tell what it was that these people had. The grandmother was diagnosed with multiple sclerorsis (which we now doubt that she had at all), one of the cousins was told he had a deficiency of copper. When my husband developed symptoms WE had to suggest to the neurologist what it was because he didn't have a clue!!! At that time there was no genetic testing available - this was going all the way back to the 60's. for the grandmother and uncle and the 70's for my mother-in-law and the 90's for my husband.

It is my understanding (which may not be completely accurate) that there are 7 types of ataxia but there is a definitive genetic testing for only two of these (as of 1999). My husband has spinal cerebellar ataxia type II for which there is a genetic test. If I were in your shoes and, given the family history, I would look into genetic testing and not just rely on the MRI. They found nothing significant originally in my husband's MRI but the genetic testing showed that the gene was present and that put an end to 40 some odd years of wondering what the heck everyone in the family had.

No other family member had the genetic testing. Those that had no symptoms didn't want to even know if they were at risk of developing it while those that had symptoms were ready to accept the fact that if one of them with symptoms tested positive then they were more than likely positive as well. You can be tested privately if you don't want a record of the results.

I don't know if this of any help to you at all. But if I were you, given the family history of ataxia, I would want a little more assurance than just a "normal" MRI.

3

I agree with KatCap21. Genetic testing would be your next step, due to your family history. Also, if you haven't seen a neurologist that specializes in ataxia, consider that if possible. My best to you Confused! ;o)

4

To find the closest ataxia specialist in your area, contact the National Ataxia Foundation at ■■■■■■■■■■■■■■
They are very nice and will answer you within 24 hours.

5

Thanks for the tips and suggestions guys. But what does genetic testing entail? A blood test? Do I need a referall?

6

First, if you have health insurance, you'll want to check and see if genetic testing is covered. It's expensive, as mine cost $3000, and I was only tested for the known recessive types of ataxia, per my neurologist. Next, I spoke with a representative from Athena Diagnostics regarding coverage, as they would be doing my genetic testing (per my neurologist), My neurologist told me to go to my primary care physician with email (from neurologist) listing what types of ataxia I should be tested for. I took email to my physician, had a blood draw, which then sent to Athena Diagnostics for genetic testing. It took about 6 weeks for the results to come back. My genetic testing was negative, therefore my Sporadic (idiopathic) Cerebellar Ataxia is truly of "unknown cause"! My best to you...,;o)

7

Thanks Rose, but can I just go to my family doctor and request genetic testing, or do I have togo through all the red tape of going to a nuero first, etc.?

8

I think you can go to your family doctor to request genetic testing, as long as he knows the proper tests to request. Also, make sure you check with insurance as to coverage, and I also verified coverage with company that ultimately did testing (due to expense, I didn't want any surprises later on). Best of luck..., ;o)

9

Thanks Rose, I will phone my insurance company tomorrow and see if they will cover it.