Neurológia pre prax 6/2019
Tratable childhood-onset movement disorders: pragmatic approach and case-report of a patient with dopa-responsive dystonia
Pediatric movement disorders are a heterogeneous group of mostly rare disorders, which, however, may be treatable in certain percentage of cases. This manuscript discusses the basic differential-diagnostic algorithm in these patients and presents a case report of a patient with dopa-resonsive dystonia due to a tyrosine hydroxylase gene mutation with an excellent therapeutic benefit of levodopa.
Keywords: dystonia, dopa-responsive dystonia, rare disorders, differential diagnosis












