title: Delayed Diagnosis of Dopa responsive Dystonia in Two Siblings.
abstract: BACKGROUND
  Dopa responsive dystonia is characterized by progressive disabling dystonia, diurnal variation and a dramatic response to Levodopa.
  
  
  METHODS
  Two siblings presented with regression of motor milestones and hypertonia in lower limbs. History of diurnal variation was present in elder sibling.
  
  
  RESULTS
  Both responded dramatically to Levodopa. The genomic DNA analysis of elder sibling revealed a novel mutation.
  
  
  CONCLUSIONS
  A trial of Levodopa should be considered in a child with motor regression with diurnal variation, in the presence of extrapyramidal features.
authors.affiliation: Department of Pediatrics, Chacha Nehru Bal Chikitsalaya, Geeta Colony, Delhi, India. Correspondence to: Dr Rahul Jain, 61 A, DDA Flats, Phase 1, Qutab Enclave, New Delhi 110 016, India. drrahuljain1980@gmail.com.
authors.forename: Rahul
authors.initials: R
authors.lastname: Jain
authors.forename: Bhaskar
authors.initials: B
authors.lastname: Shukla
authors.forename: Medha
authors.initials: M
authors.lastname: Mittal
mesh_terms: D002675:Child, Preschool; D057210:Delayed Diagnosis; D003937:Diagnosis, Differential; D015259:Dopamine Agents / Q000627:therapeutic use; D020821:Dystonic Disorders / Q000175:diagnosis / Q000188:drug therapy / Q000503:physiopathology; D005260:Female; D006801:Humans; D007980:Levodopa / Q000627:therapeutic use; D010264:Paraplegia; D035781:Siblings
chemical_list: D015259:Dopamine Agents; D007980:Levodopa