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Progressive dystonia with marked diurnal fluctuation
Author(s) -
Ouvrier Robert A.
Publication year - 1978
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410040505
Subject(s) - evening , dystonia , homovanillic acid , levodopa , nap , medicine , morning , pediatrics , circadian rhythm , juvenile , psychology , disease , anesthesia , psychiatry , parkinson's disease , neuroscience , biology , physics , receptor , astronomy , serotonin , genetics
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.