THE CLINICAL
DIAGNOSIS AND TREATMENT OF DOPA-RESPONSIVE DYSTONIA IN 8 CASES
Zhang YH, Meng NA, Qin J, Bao XH, Wu XR
First Hospital of Beijing University, Beijing, China
Objective: To attach the importance
to the recognition of dopa-responsive dystonia (DRD).
Methods: The clinical
manifestations, laboratory investigations and treatment of 8 children with
DRD were analysed.
Results: Of eight patients, two were male and six were female, with two
being sisters. The onset ages ranged from 1 to 7 years. The first symptom
of all patients manifested as gait abnormality. 4 patients were accompanied
by tremors in their extremities. Dysarthria and torticollis were done in
one patient. 5 patients had marked diurnal fluctuation of their symptoms,
characterized by aggravation towards the evenings and alleviation in the
mornings after sleep. 1 case had a short course of disease. Lead-pipe or
cogwheel rigidity of the limb muscles could be found in 7 cases. Toe-walking
in 4 cases. 3 patients had talipes equinovarus, postural tremor in 4 cases,
the deep tendon reflexes was increased in 5 children, Babinski sign was
positive in 2 cases, ankle clonus was present in 1 patient. Brain MRI、EEG、 EMG and ceruloplasmin did not
show any abnormalities. Small dosage of levodopa was markedly improvement
symptoms in all patients, the average dosage of levodopa was 8.6 mg/kg
daily.
Conclusion: DRD is a rare hereditary movement disorder. The diagnosis of the
disease is not too difficult if correct understanding of the features of the
disorder can be kept in mind. With the good response to levodopa, early
treatment would be highly recommended.