Progressive dystonia with marked diurnal fluctuation.
Three children, 2 of them siblings, developed a progressive dystonic condition in the first decade of life. The symptoms and signs were milder in the mornings or after a daytime nap but worsened greatly later in the day. One patient became unable to walk by evening. Investigations in 2 patients revealed a reduced concentration of cerebrospinal fluid homovanillic acid. The 2 more severely affected patients showed dramatic and sustained improvement with levodopa therapy. The condition bears a clinical resemblance to some reported cases of juvenile Parkinson's disease but is probably a separate disorder.
D002648:Child; D002940:Circadian Rhythm; D003937:Diagnosis, Differential; D004421:Dystonia / Q000134:cerebrospinal fluid / Q000175:diagnosis / Q000503:physiopathology*; D005260:Female; D006719:Homovanillic Acid / Q000134:cerebrospinal fluid; D006801:Humans; D006897:Hydroxyindoleacetic Acid / Q000134:cerebrospinal fluid; D008297:Male; D009468:Neuromuscular Diseases / Q000175:diagnosis; D010300:Parkinson Disease / Q000175:diagnosis
D006897:Hydroxyindoleacetic Acid; D006719:Homovanillic Acid