dopa-responsive dystonia


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dopa-responsive dystonia

an autosomal dominant dystonia that begins in early childhood, manifested by dystonic posture of the limbs or neck, which respond dramatically to small doses of carbidopa-levodopa.
References in periodicals archive ?
Similar to managing Parkinson's Disease patients with psychotic symptoms, treating both dopa-responsive dystonia and psychosis is difficult because the treatments for these conditions have counteracting mechanisms of actions.
It is necessary to start the antipsychotic at a low dose and slowly titrate up, as starting at a higher dosage or titrating too quickly can potentially exacerbate motor symptoms of dopa-responsive dystonia. Therapeutic effect was eventually reached at 2 mg daily.
The biggest limitation of this case was the lack of genetics testing to confirm his diagnosis of dopa-responsive dystonia. With the patient's permission, we had obtained previous medical records from the children's hospital in which he was diagnosed with dopa-responsive dystonia.
In conclusion, this case demonstrates that risperidone is effective in managing psychotic symptoms in a patient with dopa-responsive dystonia. This case also brings up the question on whether psychosis is a late manifestation of dopa-responsive dystonia.
Jankovic, "Dopa-responsive dystonia Clinical and genetic heterogeneity," Nature Reviews Neurology, vol.
Smit et al., "Non-motor symptoms and quality of life in dopa-responsive dystonia patients," Parkinsonism & Related Disorders, 2017.
Kahraman et al., "Are dopa-responsive dystonia and Parkinson's disease related disorders?
Markers of disease in dopa-responsive dystonia [Abstract].
Reduced lymphoblast neopterin detects GTP cyclohydrolase dysfunction in dopa-responsive dystonia. Neurology 1998;50:1021-7.
Dopa-responsive dystonia in British patients-new mutations of the GTP cyclohydrolase I gene and evidence for genetic heterogeneity.
Characterization of wild type and mutants of recombinant human GTP cyclohydrolase I: relationship to etiology of Dopa-responsive dystonia. J Neurochem 1999;73:2510-6.
[1] Nonstandard abbreviations: B[H.sub.4], tetrahydrobiopterin; GTPCH, GTP cyclohydrolase 1; IFN-[gamma], interferon-[gamma]; TNF-[alpha], tumor necrosis factor-[alpha]; PTPS, 6-pyruvoyltetrahydropterin synthase; SR, sepiapterin reductase; DHPR, dihydropteridine reductase; DRD, Dopa-responsive dystonia; and CSF, cerebrospinal fluid.