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Dopa-responsive Dystonia

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Also Known As:

Dystonia, Dopa-responsive; Dopa-responsive dystonia, autosomal dominant; Dystonia 5; Dystonia, Dopa-responsive, autosomal dominant; Dystonia, progressive, with diurnal variation; Dystonia-Parkinsonism with diurnal fluctuation; Segawa syndrome, autosomal dominant

Networked: 183 relevant articles (3 outcomes, 8 trials/studies)

Relationship Network

Bio-Agent Context: Research Results

Nervous System Diseases: 6158
- Central Nervous System Diseases: 1649
  - Movement Disorders: 4614
    - Dystonic Disorders: 575
      - Dopa-responsive Dystonia: 183

Experts

1.	Segawa, Masaya: 6 articles (01/2016 - 01/2004)
2.	Klein, Christine: 5 articles (10/2015 - 09/2007)
3.	Bhatia, Kailash P: 5 articles (09/2014 - 06/2003)
4.	Münchau, Alexander: 4 articles (10/2015 - 01/2013)
5.	Brice, Alexis: 4 articles (09/2014 - 08/2003)
6.	Nomura, Yoshiko: 3 articles (01/2016 - 01/2004)
7.	Jankovic, Joseph: 3 articles (07/2015 - 10/2006)
8.	Schneider, Susanne A: 3 articles (06/2015 - 06/2009)
9.	Furukawa, Yoshiaki: 3 articles (05/2015 - 01/2006)
10.	Wood, Nicholas W: 3 articles (09/2014 - 06/2003)

Related Diseases

1.	Dystonia (Limb Dystonia) 01/01/2016 - "Segawa disease (SD), an autosomal dominant dopa-responsive dystonia with marked diurnal fluctuation, can be clinically classified into the postural dystonia type (SD-P) and action dystonia type (SD-A). " 06/01/2015 - "Patients suffering Dopa-Responsive Dystonia present dystonia, abnormal postural balance and gait impairment. " 01/01/2013 - "DYT-5 dystonia usually presents as a dopa-responsive dystonia (DRD) with early or late parkinsonian manifestations and/or dystonic features. " 05/01/2010 - "In all children with dystonia it is important to think about possible dopa-responsive dystonia as this is treatable condition and improving the quality of life of children." 01/30/2008 - "Dopa responsive Dystonia (DRD) was first described in 1971 and typically begins at childhood with gait dysfunction caused by foot dystonia progressing to affect other extremities. "
2.	Dyskinesias (Dyskinesia) 12/01/2013 - "Novel GCH-1 mutations and unusual long-lasting dyskinesias in Korean families with dopa-responsive dystonia." 07/01/1999 - "Drug-induced motor complications in dopa-responsive dystonia: implications for the pathogenesis of dyskinesias and motor fluctuations." 06/01/2012 - "Dyskinesias as limiting side effects of levodopa should not preclude a diagnosis of dopa-responsive dystonia during diagnostic levodopa trials. " 12/01/2013 - "To describe the long-term follow-up data of Korean patients with GTP cyclohydrolase (GTPCH) I deficient dopa-responsive dystonia (DRD) with novel mutations and unusual long-lasting dyskinesias. " 01/01/2012 - "Since the efficacy of DBS is the improvement in dopaminergic drug-sensitive motor symptoms, we offer surgery to patients only when medical therapy has failed; (1) severe motor fluctuations, (2) severe dyskinesia, (3) tremor uncontrollable by medications, (4) painful dystonia, (5) side-effect for medication (drug-induced psychosis, nausea, vomitting). "
3.	Parkinsonian Disorders (Parkinsonism) 11/01/1993 - "Positron emission tomographic studies of dopa-responsive dystonia and early-onset idiopathic parkinsonism." 09/01/2014 - "We describe clinical, genetic and nigrostriatal dopaminergic imaging ([(123)I]N-ω-fluoropropyl-2β-carbomethoxy-3β-(4-iodophenyl) tropane single photon computed tomography) findings of four unrelated pedigrees with DOPA-responsive dystonia in which pathogenic GCH1 variants were identified in family members with adult-onset parkinsonism. " 07/01/2009 - "In addition, mutations in the PARK2 gene (parkin) which causes autosomal recessive juvenile parkinsonism may present as Dopa-responsive dystonia. " 08/01/2007 - "We suggest that it may be possible to clinically separate this form of Parkinsonism from dopa-responsive dystonia and Parkin-related Parkinsonism. " 05/15/2007 - "He had a family history of dopa-responsive dystonia-parkinsonism. "
4.	Tremor (Tremors) 10/01/2001 - "On the other hand, PET and SPECT are useful for distinguishing PD from Dopa-responsive dystonia, or for assessing the integrity of the nigrostriatal dopaminergic pathway in atypical cases of postural tremor or iatrogenic parkinsonian syndromes." 06/01/1998 - "Among the living members of a five generation pedigree the patient's mother and the mother's sister also had dopa responsive dystonia; a maternal grandfather had senile parkinsonism, his niece isolated postural tremor. " 11/01/2008 - "Late onset dopa-responsive dystonia with tremor, gait freezing and behavioural disturbance and a normal dopamine transporter scan." 01/01/2012 - "Since the efficacy of DBS is the improvement in dopaminergic drug-sensitive motor symptoms, we offer surgery to patients only when medical therapy has failed; (1) severe motor fluctuations, (2) severe dyskinesia, (3) tremor uncontrollable by medications, (4) painful dystonia, (5) side-effect for medication (drug-induced psychosis, nausea, vomitting). " 10/02/2009 - "Dopa-responsive dystonia (DRD) is a familial childhood-onset disease characterized by fluctuating dystonia, associated with tremor and parkinsonism in some patients. "
5.	Nausea 01/01/2012 - "Since the efficacy of DBS is the improvement in dopaminergic drug-sensitive motor symptoms, we offer surgery to patients only when medical therapy has failed; (1) severe motor fluctuations, (2) severe dyskinesia, (3) tremor uncontrollable by medications, (4) painful dystonia, (5) side-effect for medication (drug-induced psychosis, nausea, vomitting). "

Related Drugs and Biologics

1.	Levodopa (L Dopa)
2.	GTP Cyclohydrolase (GTP Cyclohydrolase I)
3.	Dopamine (Intropin)
4.	salicylhydroxamic acid (SHAM)
5.	Guanosine Triphosphate (GTP)
6.	Tyrosine 3-Monooxygenase (Tyrosine Hydroxylase)
7.	Dystonia 12
8.	5,6,7,8-tetrahydrobiopterin (tetrahydrobiopterin)
9.	Dopamine Plasma Membrane Transport Proteins (Dopamine Transporter)
10.	Myoclonic dystonia