• We examined 17 patients with progressive dystonia with diurnal variation, a dominantly inherited, generalized dystonia that begins in childhood. Dystonia was typically least severe in the morning, increased as the day continued, and markedly improved with low doses of carbidopa-levodopa. We also studied the patient's parents, children, and siblings from seven families. We observed a spectrum of neurologic involvement, phenotypic variability among siblings, and incomplete genetic penetrance. Progression of motor impairment over several years, which reaches a plateau during late adolescence, is useful in distinguishing progressive dystonia with diurnal variation from cerebral palsy and degenerative disorders. It is important to recognize the subtle, as well the extreme, manifestations of progressive dystonia with diurnal variation because it is treatable. Genetic counseling must consider that mildly affected parents with little or no disability may have profoundly affected children. Appreciation of the phenotypic variability and degree of genetic penetrance will permit detailed genetic and biochemical analyses.
Fink JK, Ravin PD, Filling-Katz M, Argoff CE, Hallett M. Clinical and Genetic Analysis of Progressive Dystonia With Diurnal Variation. Arch Neurol. 1991;48(9):908–911. doi:10.1001/archneur.1991.00530210034019
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