RESUMEN
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.
Asunto(s)
Ritmo Circadiano , Distonía/genética , Adolescente , Adulto , Carbidopa/uso terapéutico , Niño , Preescolar , Combinación de Medicamentos , Distonía/complicaciones , Distonía/tratamiento farmacológico , Distonía/fisiopatología , Femenino , Humanos , Levodopa/uso terapéutico , Masculino , Persona de Mediana Edad , LinajeRESUMEN
A 13-year, 6-month-old female was evaluated for subacute onset of left-sided hemichorea/hemiballismus, with an old, right parietal, cortical, and subcortical stroke as the presumed cause. Treatment with gabapentin was initiated, with good results at 6-month follow-up. Discussion of the differential diagnosis and evaluation of delayed-onset movement disorders in children and the mechanism of action of gabapentin is included.