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Myoclonus-Dystonia Syndrome

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

Abstract

Myoclonus-dystonia (M-D) is a genetically heterogeneous movement disorder with autosomal dominant inheritance. Clinically, the disorder is characterized by myoclonic jerks and dystonic movements which characteristically respond to alcohol. Psychiatric abnormalities are often a part of the phenotype. A major gene locus maps to the epsilon-sarcoglycan gene (SGCE, DYT11) on chromosome 7q21-22, which encodes a transmembrane protein that is widely expressed in the brain but is of unknown function. A classification of M-D diagnostic categories was recently proposed: Definite M-D refers to early onset myoclonus and dystonia or isolated myoclonus occurring predominantly in the upper half of the body with a positive family history for myoclonus and/or dystonia.

Keywords

Unknown Function Head Movement Transmembrane Protein Diagnostic Category Positive Family History 
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

The patient exhibits myoclonic jerks which predominantly involve his hands and fingers bilaterally, occurring both at rest and during action. Axial jerks are occasionally present. In addition, dynamic retrocollis is prominent with superimposed myoclonic jerks of the head. Mild blepharospasm is also present.

Myoclonus-Dystonia syndrome.mp4 (MP4 18,850KB)

References

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    Grunewald A, Djarmati A, Lohmann-Hedrich K, et al. Myoclonus-dystonia: significance of large SGCE deletions. Hum Mutat. 2008;29:331–2.PubMedCrossRefGoogle Scholar
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    Ritz K, Gerrits MCF, Foncke EMJ, et al. Myoclonus-dystonia: clinical and genetic evaluation of a large cohort. J Neurol Neurosurg Psychiatry. 2009;80:653–8.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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