Dopa-responsive dystonia

Introduction
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By Toby C Yaltho MD

Dopa-responsive dystonia is a genetically heterogeneous syndrome that typically presents in children as leg dystonia and parkinsonism. Similar to juvenile-onset Parkinson disease, dopa-responsive dystonia is due to dopamine depletion, but unlike Parkinson disease, dopamine deficiency arises secondary to a defect in neurotransmitter synthesis rather than a loss of dopaminergic neurons. In this clinical article, Dr. Toby Yaltho of Methodist Sugar Land Neurology Associates in Sugar Land, Texas, and Dr. Joseph Jankovic of the Parkinson’s Disease Center and Movement Disorders Clinic at Baylor College of Medicine in Houston, Texas, review the cardinal features, diagnosis, pathophysiology, treatment, and differential diagnosis of dopa-responsive dystonia, including related disorders of neurotransmitter metabolism.

Key points

  • Dopa-responsive dystonia is a syndrome that typically presents in children as leg dystonia and parkinsonism.
  • Dopa-responsive dystonia is a genetically heterogeneous disorder that can be inherited in either an autosomal dominant or autosomal recessive fashion.
  • The most common pattern of dopa-responsive dystonia inheritance is autosomal dominant, and the majority of affected families have a mutation in the (GTP cyclohydrolase1) gene, GCH1.
  • Dopa-responsive dystonia responds dramatically to low-dose levodopa therapy, independent of patient age or disease duration.

In This Article

Introduction
Historical note and nomenclature
Clinical manifestations
Clinical vignette
Etiology
Pathogenesis and pathophysiology
Epidemiology
Prevention
Differential diagnosis
Diagnostic workup
Prognosis and complications
Management
Pregnancy
Anesthesia
References cited
Contributors