Abstract
A case of 8-year-old female with “Hereditary progressive dystonia with marked diurnal fluctuation” was described. She developed gait disturbance when she was 5 years old. With an increasing age, tremor, bradykinesia, and equinovarus feet developed. Her symptoms and signs were mild in the morning and worsened towards the evening to the night. On examination, CSF levels of HVA and dopamine were significantly reduced. She was treated with L-DOPA and showed a considerable improvement.
The abnormal dopmine metabolism in this disorder and the important role of dopamine in body movement were suggested. Increase and decrease of dopamine turnover during the day and the night have been recognized in animals. A gradual decrease of body movements during the daytime and a gradual increase of body movements towards morning were parallel to this daily fluctuation dopamine. Marked fluctuation of signs and symptoms of this disease was assumed to correlate closely with diurnal dopamine metabolism. On the basis of the observation of an alleviation of the symptoms by daytime nap and night sleep, an important role of sleep in dopamine metabolism was considered.
