What is Dopamine-Responsive Dystonia?
Disease description:
Recently, I have been experiencing more difficulty with body movements and tremors in my hands and feet. After examination, I was diagnosed with dopamine-responsive dystonia. What is dopamine-responsive dystonia?
Doctor's answer (1)
Dr. Lv Zhiqin
Dopa-responsive dystonia is a relatively rare genetic disorder that primarily affects children or adolescents. Its pathogenesis is mainly attributed to gene defects leading to reduced tyrosine hydroxylase activity, which subsequently causes abnormal tyrosine metabolism and impaired dopamine synthesis. When dopamine levels decrease within striatal neurons, clinical manifestations such as dystonia or gait abnormalities may occur.
The main symptoms of this disease include increased muscle tone, bradykinesia, resting tremor, postural instability, and gait abnormalities. These symptoms can significantly impact patients' daily lives, making activities such as walking, dressing, and combing hair difficult.
For the treatment of dopa-responsive dystonia, administration of low-dose dopamine preparations usually brings about rapid and significant improvement. In addition, rehabilitation training, lifestyle modifications, dietary adjustments, and regular physical activity can also help alleviate symptoms. During treatment, patients should schedule regular follow-up visits at the hospital to monitor their recovery promptly.
