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Dopa-responsive dystonia in a ten-year-old girl

Venkatesh Soma1, Hussain Sadiq Mohammed1, Ebrahim Riyas1

  • 1Department of Pediatrics, AVMC and H, Kirumampakkam, Puducherry, India.

Journal of Family Medicine and Primary Care
|January 31, 2014
PubMed

Insights

Dopa-responsive dystonia (DRD) is a challenging diagnosis in children presenting with gait issues. Prompt diagnosis and treatment with levodopa/carbidopa can lead to dramatic symptom improvement.

Area of Science:

  • Neurology
  • Genetics
  • Pediatrics

Background:

  • Recent onset dystonia and gait abnormalities in children can present diagnostic challenges.
  • Dopa-responsive dystonia (DRD) is an inherited neurological disorder characterized by dystonia with diurnal variation.

Observation:

  • A 10-year-old girl with normal development presented with a 6-month history of progressive gait abnormality and dystonia.
  • Her symptoms exhibited diurnal variation, worsening as the day progressed.

Findings:

  • A therapeutic trial with levodopa/carbidopa resulted in a dramatic improvement in symptoms.
  • This response confirmed the diagnosis of dopa-responsive dystonia (DRD).

Implications:

  • DRD diagnosis is supported by a positive response to levodopa/carbidopa, especially with diurnal symptom variation.
  • While typically autosomal dominant, autosomal-recessive inheritance patterns for DRD are also recognized.
  • Early diagnosis and treatment are crucial for managing DRD in pediatric patients.

Keywords:
Autosomal dominant dystonia with diurnal variationSegawa's diseasedopa-responsive dystonia

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