Article
[Recessive dopa-responsive form of dystonia due to a mutation of the tyrosine hydroxylase gene].
Bulletin de l'Academie nationale de medecine - 1 Jan 1999
Rondot P, Wevers R A
Abstract excerpt
The cause of Dystonia Musculorum Deformans (DMD) is most frequently unknown, therefore the treatment can only be symptomatic and often disappointing. In 1971 we reported the first two cases of recessive dopa-responsive dystonia, simulating a severe form of idiopathic DMD, however remarkably well reacting to levodopa treatment. We found that the first above mentioned two cases are related to mutations in the...
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