[Progressive hereditary dystonia with diurnal fluctuations: report of 2 cases].
We report two patients with diurnally fluctuating hereditary progressive dystonia, that presented with dystonic movements and parkinsonian symptoms with marked diurnal fluctuations. There was a significant and maintained improvement of symptoms with small doses of L-Dopa. The pathogenesis of this disease could be a functional alteration of basal ganglia in the dopaminergic striatonigral region. The diurnal fluctuation of symptoms would be related to the circadian variation of tyrosine hydroxylase function.
Jalil
P
P
Servicio de Neurología, Hospital Dr Sótero del Río, Santiago de Chile.
Miranda
M C
MC
Frenkel
C
C
D000328:Adult; D000367:Age Factors; D002940:Circadian Rhythm / Q000187:drug effects; D004421:Dystonia / Q000175:diagnosis* / Q000188:drug therapy / Q000201:enzymology; D005192:Family Health; D005260:Female; D006801:Humans; D007980:Levodopa / Q000008:administration & dosage; D008297:Male; D014446:Tyrosine 3-Monooxygenase / Q000378:metabolism / Q000494:pharmacology
D007980:Levodopa; D014446:Tyrosine 3-Monooxygenase
Distonía hereditaria progresiva con fluctuaciones diurnas: descripción de dos casos.