Background: Dopa-responsive dystonia is a genetic disease that rarely reported in domestic and foreign. Its clinical characteristics is so complex and diverse that it is easy to lead to misdiagnosis and delayed treatment. However, early diagnosis and timely and appropriate treatment can completely improve symptoms. Fortunately, now we can take advantage of gene sequencing to diagnose this rare disease.
Objective and hypotheses: Understand the research progress of dopa-responsive dystonia by reporting two cases of this rare disease.
Method: Analysed the clinical characteristics and gene mutation of two cases of dopa-responsive dystonia patient and reviewed the related literatures.
Results: Gene Diagnosis of two cases of dopa-responsive dystonia and a dramatic and sustained response to treatment of levodopa.
Conclusion: Dopa-responsive dystonia is a rare genetic disease. Its characteristics include: (1) Symptoms show marked diurnal fluctuation in childhood; (2) Small dose of levodopa treatment show complete and sustained effects; (3) Regulating role of dopamine D2 receptors result in the high level of prolactin. Besides, full exon sequencing contributes to the diagnosis of dopa-responsive dystonia, therefore, the children who highly suspected the disease should be taken genetic test for early diagnosis and promptly exactitude therapy, which can manifestly reduce complications.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology