He has had all kinds of test, and all of them were negative (tests included MRI, MR Spectroscopy, lumbar puncture (spinal tap), head/neck CT, metabolic panel, various blood tests, and genetic tests for specific disorders). No positive tests to point us in the direction of a specific disorder. The only thing we know is that he responds to dopamine, which means he has dopa-responsive dystonia, Parkinson's, or a dystonia-Parkinson syndrome. Really, the only way to pinpoint which one it is would be to find an exact genetic match to a specific disorder. All of the main ones that fit his symptoms have been eliminated.

I don't know how old your son is. but it are a lot of tests for a child. I know they are nessecary. I had most of the same tests and some others like, EMG, EEG, tremor registration, ect. I'm waiting now for the MR Spectroscopy.
If I read his story it's like reading mine. The only clue they have with me also is the postive reaction on dopamine. Sounds familiar...

You are the first person I have found who has (your son has) the same problem. I HOPE WE CAN KEEP CONTACT! Can you tell me more what his symtoms are? If I ask to much, just tell me.

He had a couple of EEG's. I don't know about EMG, and I have never heard of tremor registration. He is 6. Symptoms are complicated. It started out as ataxia (drunk-looking walk). Then his legs became involved with muscle tightness and involuntary movement. Eventually, it began to move up his trunk and into his arms. We would see him reach for something, and his arm would overshoot or undershoot its target.

Lately, he's had a lot more trouble. When he first started taking ropinirole (requip), the pharmacy had mixed in some risperidone (risperdal) with it, unbeknownst to us. It really messed him up. Now, he not only has stiff muscles, but he also has a lot of tremors, chorea, ataxia, akathisia and choreo-athetosis type movements. Some of these seem to be related to having too much or too little dopamine. We have been trying to adjust his medications for months, but he keeps getting worse, to the point that he can barely walk for a good part of the day. His hips, legs and ankles are very tight, and he is needing both physical therapy and trigger point therapy to at least decrease the pain. I don't imagine this is very useful information for you, but I like to share what we are going through with other people who can at least relate to what it is like for him.

tremor registration: They where especially looking at the tremors in my hands. By this kind of test a couple of students where looking a me while I did some small exercises. Like holding a heavy book before you with stretched hands. In this way they can see how bad the tremors are and what kind of tremors you have.

An EMG is a test where you can measure the speed with current go from your brain to your muscles. By making lists of the speed they can tell if you got brain damage or not. They do that by putting a very thin needle (like the once they use for acupuncture) in a muscle, clamp a wire at the needle which run to a machine. Also you have pads on for instance your wrists. Then they give you a very small electric shock on you pad and that run through your body to the needle.

of couse your information is useful. It is always good to talk or write about it. I can imagen it must be hard for him, and also for you as a parent.

I found some dystonia groups on facebook. Thanks. I hope the doctors find a answer soon!

Bye Sophie

Hi Sophie,

I have been wanting to say 'hello' and encourage you in your daily struggles and hopes for the future, but have just been reading the posts on here for a while.
I also have a movement disorder, Parkinson's disease. I remember when I first noticed a slight tremor when I was about 34 yrs old. That was over 9 yrs ago, and since that first tremor, I can remember having some other not-so-obvious symptoms that started in my 20's.
I feel I can relate to you in that I also consider myself a little weird and philisofical. I simply call this being "quirky". In the dictionary it is defined as:

Adj. 1. quirky - informal terms; strikingly unconventional
far-out, offbeat, way-out, kinky
unconventional - not conventional or conformist; "unconventional life styles"

I like to think I am a non-conformist, but off-beat probably defines me better.

The reason I wanted to reply to your post was to encourage you to not give up on your plans, hopes, and ideas for the future. Hold on to them and if you have to, take baby steps towards those plans. This disorder you have might be hard to live with and even limit your abilities and mobility, but you can work around these challenges within reason. You can still accomplish what you set out to do 5 years ago. Don't give up on your dreams. Sometimes, when it gets rough, hope is the only thing we can cling to. So, have hope in a bright future and keep making plans.


My best to you,
Tonya

Hi Tonya,

Thank you for your support. I don't give up hope, but I do try to be realistic. I don't want to live every day with my mind in the future instat of today.
My doctors have told me I won't recover and I don't have to expect to go back to work again.

But as you can read in my blog; sophiebrain.wordpress.com, There is hope now. I'm on parkinson medication, but the doctors don't understand why it works. It they can prove I have a dopamine problem it will be easier for me to get new and more medication. Now I'm on a very low dosis, because they don't like experimenting. But maybe in a few months.....

I would like a personal question, if thats not a problem. I seen you have childeren. I'm told that parkinson medication and having childeren is not good for the unborn child. Where you of you medication while you where pregant? I don't have plan to get a child myself (first I have to find myself a husband ). But I get more and more the feeling that that door is closing for me.

Bye Sophie

Hi Sophie,

I do understand and admire your attitude about being realistic and not concentrating on the future. I read a lot of your blog, and have a better understanding of what you are experiencing. If the Parkinson's meds seem to be working, then it seems likely you have some form of PD. But, the brain is so complex and there's a wide range of neurological diseases/disorders with each person having not exactly the same symptoms as the next. I know from reading many forum posts that no two people are alike in all their symptoms with Parkinson's.

I do hope you will get answers soon. The doctors you have seem to be very attentive and committed to diagnosing you. I feel confident they will get to the bottom of it. Thankfully, there are some very good medications available to help with the symptoms that cause us so much distress.

I don't mind you asking me questions. If I'm able to help in any way, I would be glad to do it. Unfortunately, I can't help you with personal experience regarding pregnancy and PD meds. My second child was 3 years old when I first noticed the tremor in my hand. But, I did some research(as you probably already have) and one website said it wasn't good to take carbidopa/levodopa while pregnant. Mostly, they just advise people to talk to their doctor if trying to become pregnant or are pregnant. I would think that if a person wanted to become pregnant they could ease off the meds. and hopefully do without them until the baby is born. Natural meds/herbs could be taken in place of these, hopefully. All would have to be approved by the doctor, of course. Something to think on until you do find that husband.

Your blog is very good, Sophie. And, it is a good source of information to help those going through the same or similar experiences as you. You have a way with writing and your attitude is amazing. I'll keep checking in on it for new updates. Glad you are here for friendship and help.

Thanks for sharing,
Tonya