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DYT1 Generalized Dystonia

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

Abstract

DYT1 or Oppenheim’s dystonia is recognized as the most common form of early onset primary dystonia. It accounts for 16–53% of early onset dystonia in non-Jewish populations but can be as high as 80–90% among Ashkenazi Jews. Typically, DYT1 dystonia begins in early childhood with a focal action dystonia involving the lower more commonly than the upper limb. Lower limb dystonia typically causes unilateral foot inversion and plantar-flexion postures while walking. In early stages, patients are often able to run or dance without exhibiting foot dystonia. Dystonia then gradually spreads to involve other body regions, becomes less-action specific, and becomes increasingly present at rest.

Keywords

Deep Brain Stimulation Botulinum Toxin Autosomal Dominant Inheritance Ankle Pain Left Ankle 
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

DYT1 dystonia.mp4 (MP4 51,317KB)

Clip 1: the patient exhibits mild bilateral foot dystonia. While walking, this gives the appearance of a mild left footdrop, while on the right side he lands with his foot on its outer aspect with extensor posturing of the large toe. Later in the video, he sits with his left foot inverted. While standing, the right foot and toes are plantarflexed while the left foot is inverted. Clip 2: another DYT1 patient developed cervical and axial dystonia for the first time at age 18. His trunk is flexed at the waist, hyperextended in the lower thoracic region, tilted to the right, and concave to the left in a typical “dromedary” posture. There is also cervical dystonia with a mixture of retrocollis, laterocollis, and rotational torticollis. While walking, he uses a “sensory trick” of holding his left hand to the back of his head to stabilize his posture.

References

  1. 1.
    Ozelius LJ, Kramer PL, Moskowitz CB, et al. Human gene for torsion dystonia located on chromosome 9q32-q34. Neuron. 1989;2:1427–34.PubMedCrossRefGoogle Scholar
  2. 2.
    Bhidayasiri R, Pulst S-M. Dystonia (DYT) genetic loci. Eur J Paediatr Neurol. 2005;9:367–70.PubMedCrossRefGoogle Scholar
  3. 3.
    Bressman SB, De Leon D, Kramer PL, et al. Dystonia in Ashkenazi Jews: clinical characterization of a founder mutation. Ann Neurol. 1994;36:771–7.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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