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afroney

Parkinson's vs. Dopa Responsive Dystonia

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afroney    124

I was diagnosed with early-onset Parkinson's disease last January, at the age of 27 (Though, I've been experiencing symptoms since my teens.) According to the Neurologist, I have all the classic signs. Resting tremor in my left pinky and right hand, slowed movement and a shuffling gait, and impaired balance. Symptoms started on my left side and progressed to both sides. Sinemet improves my symptoms dramatically - to the point where I often forget I have this disease. I also experience involuntary jerking of my body and limbs, trouble with speech, insomnia, and dystonia (mainly in my neck).

 

Last May, I got a second opinion from a Movement Disorder Specialist. He strongly thought it was Parkinson's, but also mentioned a possibility of Dopa Responsive Dystonia. He ordered a DatScan and 3 tesla MRI. Both scans came back completely normal. I've also had genetic testing, as my father has early-onset Parkinson's and the LRRK2 mutation. They did not find this mutation in my genetic testing, or anything else out of the norm.

 

Would you highlight the differences between the two diseases? I can't find much information on Dopa Responsive Dystonia.

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Dr. Okun    409

Parkinson's disease typically has symptoms like tremor, stiffness, slowness and gait issues as well as non-motor issues such as depression, anxiety and sexual dysfunction.

 

DRD or dopa responsive dystonia has been classically in textbooks described as having similar symptoms to PD but also diurinal fluctuations in the amount of symptoms during different parts of a day. These patients respond to levodopa and sometimes even tiny doses. They also may respond to agonists and anticholinergics. Many DRD patients who are young may be missed as they may have dystonia and look like they have cerebral palsy.

 

We now know that there are cases of DRD that can look just like PD (identical symptoms). The DAT scan is typically abnormal in PD and normal in DRD. Here is a recent paper on this topic published from a group in Belgrade.

 

 

Hell J Nucl Med. 2012 May-Aug;15(2):134-8.

Dopamine transporter imaging (123)I-FP-CIT (DaTSCAN) SPET in differential diagnosis of dopa-responsive dystonia and young-onset Parkinson's disease.

 

Source

 

University of Belgrade Center for Nuclear Medicine, Clinical Center of Serbia, Belgrade, Serbia.

Abstract

 

 

Dopa-responsive dystonia (DRD) is a genetic disorder characterized by childhood onset dystonia, dominant inheritance, diurnal symptoms fluctuation and positive levodopa response. Adult-onset DRD is frequently combined with parkinsonism and can be mistaken with young onset Parkinson's disease (YOPD). Both conditions are caused by dopamine deficiency, due to nigral cells' loss in YOPD, and due to enzymatic defects in dopamine synthesis in DRD. Single photon emission tomography (SPET) with (123)I-N--fluoropropyl-2b-carbomethoxy-3b-(4-iodophenyl) nortropane ((123)I-FP-CIT)-DaTSCAN is a sensitive neuroimaging method for the assessment of nigrostriatal dopaminergic system integrity and degeneration. Our aim was to evaluate the usefulness of (123)I-FP-CIT( DaTSCAN) SPET in the differential diagnosis of DRD and YOPD in clinical practice. Brain SPET with (123)I-FP-CIT was performed in 13 patients (7 males, 6 females), age 20-58 years, with mean age of onset of their disease, 29 years, eleven patients with early onset parkinsonian symptoms and 2 with genetically proved DRD. The images were evaluated by visual and semiquantitative analyses (ROI). The ratio of specific-striatal to non specific-occipital binding was calculated. Ten out of 11 patients with YOPD had decreased accumulation of DaTSCAN in striatum, especially in putamen, that is typical findings for Parkinson's disease. In three patients DaTSCAN was normal with symmetric tracer uptake in both striata, caudate nucleus and putamen and the diagnosis of DRD was suspected. Two patients with initial dystonic symptoms and genetically proved DRD had normal DaTSCAN. In one patient after normal DaTSCAN findings the initial diagnosis of YOPD was changed to the diagnosis of DRD. Region of interest (ROI) analyses have shown significantly lower(123)I-FP-CIT binding ratios in YOPD than in DRD in all 3 regions of interest: striatum (1.95±0.32) vs (2.76±0.10) P<0.001, putamen (1.76±0.25) vs (2.84±0.14) P<0.0001 and caudate nucleus (2.37±0.51) vs (3.27±0.14) P<0.01. In conclusion, our results indicate that DaTSCAN is an objective neuroimaging method able to distinguisch neurodegenerative disease YOPD from DRD and clarify a clinical dilemma, which is important for the treatment, prognosis and genetic counseling of patients and their families.

PMID: 22833860 [PubMed - indexed for MEDLINE]

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sessie    30

Is it important to know if it is PD or DRD? Would the treatments be much different?

 

With PD, isn't it also true that symptoms fluctuate during the day--for instance, more stiffness and slowness in the morning and evening?

 

Thanks :)

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molly_m    1

Hi, I have a question regarding this post which I find very interesting. My mother has Parkinsons Disease and I have recently been told I most likely have Dopa Responsive Dystonia. Our symptoms are very similar and especially our non-motor symptoms. I have a lot of fatigue and sleep issues, and although my Dystonia symptoms are very noticeable (and have responded very well to the Sinemet), my non-motor symptoms are almost as equally bothersome. On top of the Dystonia symptoms, my arm does not swing, I have a tremor in my pinkie, etc. My mother is the same. My question is - how likely is it that I have DRD and not Young Onset Parkinsons? It's confusing because I have a number of neurologists, and have had varying opinions. Thank you

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Dr. Okun    409

The only way to tell if you have DRD and not PD is by genetic testing (ask your neurologist). DRD has a more benign course and symptoms can look identical in some cases. Treatment is essentially very similar.

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