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jdurrant

Dopa responsive dystonia vs. Parkinson's disease

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Thank you for creating this wonderful resource. I developed some motor symptoms (tremor, gait changes, etc) about seven months ago following six years of increasing fatigue. I'm currently 31 years old. My symptoms improve with l-dopa, and I've been prescribed Requip.

 

My movement disorders specialist tells me that I either have dopa responsive dystonia or young onset Parkinson's. My question is, what are the chances of a 31 year old developing dopa responsive dystonia, which is already a rare pediatric disease in and of itself? Is my neurologist just being thorough by including DRD in the differential, or is DRD really a reasonable possibility? I know you can't examine my symptoms, but can you offer some advice based on the epidemiology of these two conditions alone?

 

Thanks.

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Given your age and response to levodopa your neurologist is correct; it could be dopa responsive dystonia which presents much like PD. We have recently learned several patients in our PD practice who look just like they have PD, actually after genetic testing have dopa responsive dystonia. It is still rare. One difference is that it has a more benign course. If you want to know for sure seek out an expert center that can do a genetic test.

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Very good news! I would love for it to be dopa responsive dystonia. My doctor has actually already ordered the genetic test from Athena. I've heard that it only tests for one type of DRD. Is that right? If it should come back negative, would it be proper to abandon the DRD diagnosis, or would there still be a reasonable chance that it's not Parkinson's? Sorry for all these questions. I'm a scientist and so am a bit obsessed with probabilities and predicting outcomes. :)

 

Thanks again for your help!

 

Given your age and response to levodopa your neurologist is correct; it could be dopa responsive dystonia which presents much like PD. We have recently learned several patients in our PD practice who look just like they have PD, actually after genetic testing have dopa responsive dystonia. It is still rare. One difference is that it has a more benign course. If you want to know for sure seek out an expert center that can do a genetic test.

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There are several mutations of the gene, but most diagnoses will be caught by this test.

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Thanks for your very helpful answer. Just one more question... Back when I was on l-dopa especially, and to a lesser extent on Requip XL now, my response to the drug was quite robust. I'd be shaking and struggling with my gait, I'd take the l-dopa, and 20-40 minutes later the shaking would stop, almost like a switch. This kind of dramatic response was, with few exceptions, very reproducible. Given my response to l-dopa, is it true that DRD and Parkinson's are the only two conditions in the differential? Or should other conditions still be entertained as well?

 

Thanks again for providing this wonderful resource. It really brings me a lot of peace of mind to be able to ask these questions. :)

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You are correct that there are very few conditions that have such a robust response to levodopa therapy.

 

The patients with dopa responsive dystonia usually respond at very low dose and need very little changes in their drug dose over time. Also, the DRD folks usually don;t develop a lot of motor fluctuations and dyskinesia.

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I am a 32 year old female and my symptoms only expressed noticeably after I gave birth 5 years ago. I've seen three different neurologists, the first one convinced I had MS, and have received no diagnosis. I've been told by the last neurologist that she doesn't think it is Parkinson's...and after the genetic test came back negative she seemed to rule out DRD. 

 

My symptoms are text book late onset DRD and from the beginning I've maintained my experience with dinural fluctuation. I am always better after naps or when I wake up in the morning....almost like for the first hour of the day I feel like I've somehow imagined all of the symptoms and all of a sudden they have disappeared and I'm better. 

 

My primary care has worked with me throughout this tough process and a year and a half ago put me on Sinemet 25/100 which I take 2-3 times a day. Within the first half hour of taking the first dose I was swinging my arms when I walked to the mailbox. I haven't swung my arms in several years (probably one of the first symptoms that I didn't realize was a symptom). My doctor and those close to me tell me that they are still continuing to seem improvements the longer I am on the medication. 

 

I have taken a break from neurologists for the past year and am fine with where I am with my primary care doctor for the most part, but my husband and I are contemplating another having another child. Were I to seek out another neurologist I would want to go to someone who specializes in DRD at least to have them entirely rule it out as I am not convinced that I don't have DRD. What are the leading hospitals and who are some of the leading neurologists for this unique dystonia?

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I don't think there are any leading hospitals for DRD but most movement centers can handle.  Just because the genetic test is begative does not rule out DRD or PD.  DRD can have many mutations.  Have you considered getting a DAT scan as in these confusing situations it can at least tell you if you have a problem in the dopamine area (transporter)?

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