Dopa-responsive dystonia simulating cerebral palsy

Pediatr Neurol. 1994 Oct;11(3):236-40. doi: 10.1016/0887-8994(94)90109-0.


Five patients presented in infancy or early childhood with various combinations of pyramidal and extrapyramidal signs with normal cognitive function. Their perinatal courses were unremarkable. In each patient, initial impressions listed by several examiners included spastic diplegia or cerebral palsy. Later in each course, either extrapyramidal features or progression suggested dopa-responsive dystonia. In 4 of the 5 children, cerebrospinal fluid was obtained and disclosed reduced levels of biopterin, neopterin, and homovanillic acid in all 4. Levodopa therapy resulted in prompt improvement with normal function returning within 6 months. The disappearance of the "spasticity," extensor plantar responses, and extrapyramidal signs, following levodopa therapy, confirmed the diagnosis of doparesponsive dystonia in these patients. Three had apparently sporadic disease; the other 2 were siblings with an affected paternal grandmother. Three had onset in infancy with delayed sitting and walking before the appearance of overt dystonia; infantile onset is infrequent in dopa-responsive dystonia. The other 2 had normal milestones, but developed gait disorders with prominent imbalance in early childhood. The diagnosis of dopa-responsive dystonia should be considered in children with unexplained or atypical "cerebral palsy."

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Biopterin / analogs & derivatives
  • Biopterin / cerebrospinal fluid
  • Carbidopa / administration & dosage
  • Carbidopa / adverse effects
  • Cerebral Palsy / cerebrospinal fluid
  • Cerebral Palsy / diagnosis*
  • Cerebral Palsy / drug therapy
  • Cerebral Palsy / genetics
  • Child
  • Diagnosis, Differential
  • Dose-Response Relationship, Drug
  • Drug Administration Schedule
  • Dystonia / cerebrospinal fluid
  • Dystonia / diagnosis*
  • Dystonia / drug therapy
  • Dystonia / genetics
  • Female
  • Follow-Up Studies
  • Homovanillic Acid / cerebrospinal fluid
  • Humans
  • Levodopa / administration & dosage*
  • Levodopa / adverse effects
  • Male
  • Neopterin
  • Neurologic Examination* / drug effects
  • Parkinson Disease, Secondary / cerebrospinal fluid
  • Parkinson Disease, Secondary / diagnosis
  • Parkinson Disease, Secondary / drug therapy
  • Parkinson Disease, Secondary / genetics


  • Biopterin
  • Levodopa
  • Neopterin
  • Carbidopa
  • Homovanillic Acid