An early onset of hereditary progressive dystonia with marked diurnal fluctuation: determining clinical status using...

We report on a 5 year old girl who has hereditary progressive dystonia with marked diurnal fluctuation that improved remarkably after treatment with L-dopa. A gait analysis of the patient was done and we compared her gait patterns with those of a normal child. The following results were obtained. Before L-dopa treatment: (i) knee extension time was prolonged with genu recurvatum; (ii) the flexors and the extensors were simultaneously activated in the stance phase, and reciprocity between them was impaired; and (iii) recorded sole contact was a toe-only pattern. After L-dopa treatment: (i) the step cycle was shorter mainly due to a shorter knee extension time; (ii) genu recurvatum improved; (iii) reciprocal activities of the flexors and the extensors were observed; and (iv) a normal sole contact pattern was also observed. The data from the gait analysis were useful in stabilizing the subject's clinical condition and in evaluating changes to it.