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Rapid-Onset Dystonia Parkinsonism

  • Roongroj Bhidayasiri
  • Daniel Tarsy
Chapter
  • 266 Downloads
Part of the Current Clinical Neurology book series (CCNEU)

Abstract

Rapid-onset dystonia parkinsonism (RDP) is a rare autosomal dominant disorder that usually affects adolescents and young adults but occasionally young children. It begins abruptly and evolves very rapidly over days to weeks. A typical onset is with orofacial dystonia, severe dysarthria, dysphagia, and muscle cramps in upper extremities associated with variable degrees of bradykinesia, rigidity, and postural instability. Cranial and upper limb muscles are more affected than the lower limbs. Bulbar involvement is prominent manifest by an open mouth, drooling, and near inability to speak or swallow. Initial deficits usually stabilize over the first few weeks but may then persist unchanged or show mild improvement.

Keywords

Open Mouth Limb Muscle Postural Instability Muscle Cramp Typical Onset 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Supplementary material

Rapid-onset dystonia-parkinsonism.mp4 (MP4 5,861KB)

Clip 1: the patient has a stiff gait with reduced arm swing. Facial expression is markedly reduced. Clip 2: the same patient exhibits fixed flexion dystonia of left hand. (Video contribution from Dr. Nutan Sharma, Massachusetts General Hospital, Boston.)

References

  1. 1.
    Brashear A, DeLeon D, Bressman SB, et al. Rapid-onset dystonia-parkinsonism in a second family. Neurology. 1997;48:1066–9.PubMedCrossRefGoogle Scholar
  2. 2.
    Brashear A, Dobyns WB, de CArvalho Aguiar P, et al. The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A gene. Brain. 2007;130:828–35.PubMedCrossRefGoogle Scholar
  3. 3.
    Tarsy D, Sweadner KJ, Song PC. Case 17–2010: a 29-year-old woman with flexion of the left hand and foot and difficulty speaking. N Engl J Med. 2010;362:2213–9.PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media New York 2012

Authors and Affiliations

  • Roongroj Bhidayasiri
    • 1
    • 2
  • Daniel Tarsy
    • 3
  1. 1.Chulalongkorn Center of Excellence on Parkinson’s Disease and Related DisordersChulalongkorn University HospitalBangkokThailand
  2. 2.Department of NeurologyDavid Geffen School of Medicine at UCLALos AngelesUSA
  3. 3.Department of NeurologyHarvard Medical School Beth Israel Deaconess Medical CenterBostonUSA

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