Dopa-Responsive Dystonia

  • Yoshiaki Furukawa
  • Mark Guttman
  • Stephen J. Kish
Part of the Current Clinical Neurology book series (CCNEU)


Patient 1: A 6-year-old girl with gait disturbance was introduced by an orthopedist in 1990, before the discovery of causative genes in dopa-responsive dystonia (DRD). Although early motor development was normal, she had Trendelenburg’s symptoms resulting from a congenital dislocation of the left hip (acetabular dysplasia). In addition, she developed flexion-inversion of the left foot at the age of 3 years, which became aggravated toward the evening and was alleviated in the morning after sleep. Her postural dystonia spread to other limbs within 3 years but was more pronounced in the legs. Neurological examination also revealed symmetric hyperreflexia without extensor plantar responses, and rigid hypertonicity in the legs. Investigations, including copper metabolism and brain magnetic resonance imaging, were normal. Therapeutic trials with levodopa and tetrahydrobiopterin (BH4; the cofactor for tyrosine hydroxylase) were considered, and a lumbar puncture was performed to measure cerebrospinal fluid (CSF) pterins. She remarkably responded to low doses of levodopa but not to acute BH4 administration. After increasing the dosage of levodopa (20 mg/kg/day, without a decarboxylase inhibitor [DCI]) and undergoing an operation (acetabuloplasty) for the complicated condition, she became completely normal and was diagnosed as DRD. The diagnosis was supported by CSF data (decreased total biopterin and neopterin) and was confirmed later by genetic analysis (1,2).


Tyrosine Hydroxylase Motor Delay Tyrosine Hydroxylase Gene Extensor Plantar Response DYT1 Dystonia 
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Copyright information

© Humana Press Inc. 2005

Authors and Affiliations

  • Yoshiaki Furukawa
    • 1
  • Mark Guttman
    • 2
  • Stephen J. Kish
    • 2
  1. 1.Movement Disorders Research LaboratoryCentre for Addiction and Mental Health-Clarke DivisionTorontoCanada
  2. 2.Centre for Addiction and Mental Health-Clarke DivisionHuman Neurochemical Pathology LaboratoryTorontoCanada

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