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Hereditary progressive dystonia with marked diurnal fluctuation: report of a case.
We describe a case of "hereditary progressive dystonia with marked diurnal fluctuation". The three-year-old girl had idiopathic progressive dystonia for 4 months. She had most of the characteristics described by Segawa in 1976 (small age of onset, marked diurnal fluctuation, predominant limb involvement, and dramatic relief of symptoms with small doses of L-dopa) except that there is no known family history. Her symptoms disappeared the second day after receiving L-dopa 20mg/kg/day. Dystonia would resume with the same speed if L-dopa was withdrawn. We have followed this case for more than one year till now. There is no dystonia or side-effect of drug at present. It is probably a sporadic case. The correct diagnosis and treatment is important for this kind of patient.
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