Spinocerebellar Ataxia

[Guest guest]

Hello all,

I had an interesting trip to the neurologist yesterday.

A little background. I was a typical CMT person (clumsy since childhood, MANY

falls as an adult, etc.). My primary care physician referred me to a neurologist

when the burrning/cold/shock sensations in my feet started interfering with my

sleep. I was diagnosed with pre-diabetic neuropathy, even though I've never had

a high sugar reading in my life. A year later, things were no better. The

neurologist repeated nerve conduction tests which showed slowing, but he

insisted his diagnosis was correct.

I asked for a referral to a major health center. CMT was diagnosed based on

neuropathy pain, nerve conduction studies, some family history, a physical exam,

and the elimination of most everything else. I finally had genetic testing and

it came back with no CMT match at all. I've been treated for CMT because the

neurologist thought the genetic test showed a pattern that would one day become

a CMT type.

Then things started to get a bit strange. I started having some visual

disturbances (double vision, issues in following moving objects). My neurologist

referred me to an optical neurologist about 2 years ago. He did a brain MRI and

found no problems. I was getting frustrated with all the " there's nothing we can

do for you " comments, so I went to a second major health center. The optical

folks there saw mild cerebellar atrophy on the MRI, but the regular neurologist

seemed uninterested in my case. My hometown doctor said there was no cerebellar

issues at all, and all but became angry about it. When I returned to the first

medical center, the doctors there agreed that there was minor atrophy.

In April, my hometown doctor repeated the MRI as a way to show the big center

guys they were wrong about the atrophy. On reviewing the new test, however, he

agreed that there was atrophy. He told me there were CMT's with cerebellar

atrophy and that since the degree of attrophy had changed little over two

years, he thought I simply had one of the rarer CMT's. He said nothing could be

done.

Yesterday, I went for my annual review at the major health center. The

neurologist spent much more time on checking reflexes than usual and he asked a

lot of questions. After he looked at the MRI, he said he believed I had

spinocerebellar ataxia instead of CMT. He explained that this disease would

probably advance more quickly and that there was a wide range of possible

outcomes. He increased my anti-depresant and told me to come back in a year and

to call if I needed him. That was a much stronger response than I had ever

gotten from him. He also seemed concerned in telling me his new diagnosis. He

said the type of ataxia could only be confirmed with more genetic testing and

again there was no treatment for any of the types. Since my wife and I are over

50 with no kids, he saw no reason for the test.

My CMT has advanced rather quickly - 5 years ago, I walked normally, if

clumsily, without help. I moved from that to AFO's to a cane and now to elbow

crutches. I've read about spinocerebellar ataxia and it isn't very pretty.

Does anyone know anything about this?

Jim