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Hyperkinetic Movement Disorders
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
Morales-Briceno Hugo, Victor S.C. Fung, Annu Aggarwal, Philip Thompson
Differential diagnosis: Other DRD syndromes: Sepiapterin deficiency, tyrosine hydroxylase deficiency, dihydropteridine reductase deficiency, 6-pyruvoyltetrahydropterin synthase deficiency, DNACJ12 mutations, PRKN mutations.7Dopamine transporter (DAT) single photon emission computed tomography (SPECT) scan may help differentiate from other forms of dystonia–parkinsonism with nigrostriatal degeneration.Diagnosis: Genetic test for GCH1 mutations (if available).CSF neurotransmitter profile: low levels of HVA, 5-HIAA, BH4, and neopterin.Dramatic and sustained response to small doses of levodopa.All patients with early-onset dystonia (<21 years) should have a trial of levodopa.
Neuro-ophthalmology of movement disorders
Published in Expert Review of Ophthalmology, 2018
Dystonia of extraocular muscles can manifest as oculogyria, sometimes referred to as ‘oculogyric crisis,’ a sustained, involuntary, conjugate, painful, deviation of the eyes to one side or in upward or downward direction. It typically represents secondary dystonia such as drug-induced acute dystonic reaction, tardive dystonia in patients treated with dopamine-blocking medications, or in patients with dystonic tics due to Tourette syndrome [68]. Inherited disorders of monoamine metabolism, such as tyrosine hydroxylase deficiency, aromatic amino acid decarboxylase deficiency, pterin metabolism defect, can also manifest as oculogyria in children among other neurological symptoms [69,70]. Encephalitis lethargica, an extremely rare in present days, was presumed to be a viral disease resulting in postencephalitic parkinsonism; oculogyria was one the most common ocular manifestations [71].