Spinocerebellar Ataxia?

[Quadmother]

My situation is convoluted.  Long story to get to the point:  1 yr. ago fell ill w/multi symptoms which, over time, parsed out to be a serious Anemia problem & some "vague" neuro symptoms.  Anemia/Hemotologists treated & so far, so good in terms of Anemia.  Neuro symptoms attributed to B12 deficiency & should go away after treatment.

Now, Anemia under control w/treatment, neuro symptoms seeming to progress.  Muscle spasms/cramping in legs, feet, hands, tongue; hand tremors; slightly slurred speech (sporadically); horrible fatigue, foggy feeling/memory probs, aphasia (using wrong word in sentence/word searching).  6 month follow-up Neurol.  Balance worse, tremors better.  Spastic episodes less frequent.  Now says doesn't think B12 related, & referred for 2x week PT & Neuropsych work up.  Just before started PT I fell down and wracked my knee.  Previously, balance issues were a kind of "tipping over" - sort of over compensating when turning or standing up, hands out to catch myself and use furniture/walls to balance.  Haven't fallen since, but have had close calls.  Now walking with a cane.

Finally, my 2nd cousin just diagnosed in her early 60's with Spinocerebellar Ataxia (genetically dominant disease).  Hers started presenting about 20-25 years ago with symptoms like mine!  Yikes!  Going back over family history we've identified a few relatives (my grandmother & great grandmother) who may have had it, too, but died before it got to wheelchair phase.

...AAAnnnddd, I've started experiencing hot tingling like sensations in hands and feet - some numbness - sporadically...nothing permanent but uncomfortable and somewhat painful when it happens.

Neurol. doesn't seem interested in any of this.  I'm concerned.  this point?  I am typically a pro-active person and waiting & not seeking out answers/solutions doesn't sit well with me.

Is Neurol. waiting for results of Neuropsych testing?  Does this test address or detect motor issues such as I describe.  Do I just sit around and wait for it to get worse?  

[work546]

I understand been there but can't controll what I have          good luck hope is something they can't take

[Quadmother]

Hey AMO,

Thanks for your response here and to my later post...

Cousin (who's 25 years older) had MRI that showed some cerebellar degeneration.  They're now working on getting DNA test to find which number it is...she has horrible insurance so everything takes a million years...Her Neuro said that had she had an MRI at my age (43) the degeneration wouldn't have shown at that time - from which I extrapolate that my MRI doesn't look funny (yet)...

Had MRI in September 2005 and again September 2006.  Was referred at that time to Neurol. for possible MS, however she reviewed and dismissed that.  Said anomalies on MRI were within normal range.  No contrast or anything on MRI.  Only MRI of brain, not spine.

That's before these symptoms started to progess to where I'm falling down and now the new tingling and everything.

You're right - I need to find a Neurol. who'll listen to me.  Just found a support group called New England Ataxia foundation and they meet at end of month with top-Ataxia Doc. from Mass General.  I'll try to catch his ear at that meeting.  Takes *months* to get a new-patient appt. with Neurologists around here...

Thanks again for your support!

Quadmom

[AMO]

hi,

have your cousin sca been actually identified by a number?  and have you been seen by a moivemnet disorder specialist? I htink it is important to seee someone who is listening to you and your family historyy.
Have you had an mri? If referals is a problem, seee your pcp  anad have a good talk.
be well quadmother, amo