Hello,
I have an unknown neurodegenerative disorder which is being called "Spinocerebellar Ataxia, type unknown" for now (another story). Anyway, I have lots and lots of medical questions, but here is the latest and I'm hoping that someone(s) here has some words of wisdom/ideas to share.

I experience non-stop tremor-like activity in my thighs -- only when I am being examined by a physician or when I am talking about my family's disorder. It's very visible and my episodes subside within 15 minutes or so afterwards.

And so common sensically, physical Ataxia work is obviously a major stressor for me to avoid if at all possible, right? (Hmmm, I'm totally fine when I write about Ataxia, I just can't get examined or talk about it without having my thighs go into paroxysms...Oh, and my voice gets real shaky, too.

What's happening here? The tremor-like activity occurs while I'm at rest (physically, anyway). Is it Parkisonism, perhaps?

Thanks so much for any thoughts.

It's cerebellum tremor, part of OSCA disorder, i guess. I have intension tremor (then i work by my muscle in any part of body) last three years, and most visible in my fingers then i bring together it's for example. I think - it's thats disorder, what your, but still no diagnosed...

Thanks for replying, HopeHunter.

What does OSCA stand for -- is it Something, Something, Cerebellar Ataxia? Can my problem (tremor) be the same as yours? Mine happens only once in awhile (kinda' like "stage fright"). And sorry, I don't quite understand the rest of your reply...

Take care,

Oops, sorry, of course OPCA shoeld be right - it's more common name of it's disorder, rather than cerebellar ataxia. However your type of tremor not like intentional tremor, thats link to the OPCA, but tremor can difirrent from various people.

Unknown type thats more bad than with known genetic mutation, becouse for it's cause require serach that gene is broken before the cure will be done. But take care, genetic test near future of the next two years, and unknown will clear.

Sorry for my english, can explain on russian, want you?

I can only tell you about my tremors, but of course I am not sure if they are the same. I can tell you that stress makes them worse--FOR SURE! I have whats called cervical dystonia & vocal cord dysphonia which causes my neck to pull to my left side. I also have tremors in my hands but most affected is my left hand. The vocal cord dysphonia causes my voice to become shakey and crackle. There is a test you can get to see if your vocal cords are go into spasms---like I said, it with out a doubt is made worse by stress. I notice when I speak with the doctors also,my tremors increase. have you had a complete work-up with a neurologist? I never realized how many neurological problems mimic each other, and it takes quite a long time for the doctors to sort it out. Try to be patient (easier said then done) and just keep on the doctors until you get some answers. The best of luck with everything. hutch

Hi Hutch,
Thanks so much for the info. Re: vocal chord dysphonia test -- I'll definitely inquire at my next neuro appointment in September. Are there meds for this? In other words, is it even worthwhile to know -- is it treatable, or just manageable?

And actually, now that you mention it (re: complete work-up), my legs really freaked out when I was getting an EMG down at the NIH medical campus last summer -- so hopefully the research team will investigate my body's reaction to the testing.

Take care,

The only treatment for Vocal Dysphonia is Botox shots. I get botox for my cervical Dystonia also---It really works well-It lasts about 3 months, and I go back again. What was the results of your EMG? It sounds like you may have something going on in your cervical spine?? Have you gone to a movement doctor. They deal with anything that has to do with movement disorders. That is the doctor who has diagnosed me and figured out what was going on. I wish I could give you more info, if I find out anything else, I will let you know. I go to John Hopkins---they are great too. NIH is great too I bet. Take good care---- hutch

No, I've never seen a movement disorders specialist yet -- I'm expecting an update from my NIH neurogeneticist soon, so maybe he'll recommend this as my next step. So far, all I've been focusing on is Ataxia specialists, since I was given the "SCA, type unknown" dx back in 2005. Thanks so much for the idea, though!

Take care,

P.S. Johns Hopkins, you say?! They have a fabulous Ataxia center down there, under Dr. Joe Savitt. I'm not a patient there, but I attended one of their support group meetings last month. Anyway, I'm sure that the two groups work closely together (that is, Ataxia and Movement Disorders), since hereditary Ataxia is a type of movement disorder...

P.S.S. Where in PA do you live, if you don't mind my asking?

I am not familiar with Ataxia, what kind of disorder is this, and what are your exact symptoms from it? I started botox 4 months ago and it really is helping me. As wonderful as JH is, I don't think they are certain on what all my neurological problems are and how they are connected to each other or not connected. I am sure you know how frustrating it can be! How did you like the support group, was it helpful? Do you live near Baltimore? I live in North wales--PA, about 35 miles from philly. take good care

Hi Hutch,
Sure, here's a quick definition that is taken from the National Ataxia Foundation's publication called Generations:

How to Explain Ataxia

"I have a problem with poor balance, clumsy coordination and slurred speech. It's called Ataxia. The balance center in my brain (the cerebellum) is not working well. This can be caused by a genetic problem, a toxin that a person is exposed to, or a stroke or injury. In some cases the doctor does not know what caused it and then the physician continues to look for a cause.
My Ataxia may continue to slowly get worse, but I can partially control it with physical therapy and medications. Even though Ataxia may look like multiple sclerosis or some of the other movement disorders, the causes are different, the treatments are different and the research organizations that are working for cures are different. Ataxia is its own unique disorder...."

Fortunately for me, I am in the mild stages of our disorder (it's a family affair for me - at least 3 generations have been affected, and we're all different in some way. And that's what makes it so incredibly difficult to pinpoint for the researchers. Currently, we're very involved with genetic testing to see if the "Affecteds" all have the same faulty gene, and that is what I'm waiting to hear from the NIH. But if nothing pops up, then I don't know what my next step is...)

The support group meeting at Johns Hopkins was very good. There are sooooo many different types of Ataxia (dominant, recessive, juvenile-onset, adult-onset, hereditary, sporadic, idiopathic), and so it was eye-opening and humbling to me. I am so very lucky and grateful, considering...

We live in Allentown (my husband, 7 YO son, our golden retriever puppy named Bonzo and me). I know your neck of the woods very well -- I used to work in Collegeville!

Have you ever gone to the Univ of PA for examination/treatment? That's where I saw my first Ataxia specialist. Maybe they have a Movement
Disorders group there for you? Is yours a family affair, too?

Take care, and I'm so glad to be corresponding with you about this!