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Dopa-Responsive Dystonia

  • Chapter
Movement Disorder Emergencies

Part of the book series: Current Clinical Neurology ((CCNEU))

Abstract

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).

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Authors and Affiliations

  1. Movement Disorders Research Laboratory, Centre for Addiction and Mental Health-Clarke Division, Toronto, Ontario, Canada

    Yoshiaki Furukawa MD

  2. Centre for Addiction and Mental Health-Clarke Division, Human Neurochemical Pathology Laboratory, Toronto, Ontario, Canada

    Mark Guttman MD & Stephen J. Kish PhD

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  1. Yoshiaki Furukawa MD
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  2. Mark Guttman MD
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  3. Stephen J. Kish PhD
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© 2005 Humana Press Inc.

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Furukawa, Y., Guttman, M., Kish, S.J. (2005). Dopa-Responsive Dystonia. In: Movement Disorder Emergencies. Current Clinical Neurology. Humana Press. https://doi.org/10.1385/1-59259-902-8:209

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  • DOI: https://doi.org/10.1385/1-59259-902-8:209

  • Publisher Name: Humana Press

  • Print ISBN: 978-1-58829-305-3

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