• Jeff L. WaughEmail author
  • Trisha Multhapt-Buell


Dystonia is the third most common movement disorder. It is characterized by abnormal fixed positions and twisting movements. Dystonia can be sporadic or inherited. Classifications are made by age of onset, affected body part, whether it is primary, secondary or heredodegenerative, and by the presence or absence of other movement disorders. Numerous genes can cause dystonia, complicating testing and diagnosis. Inheritance patterns can be autosomal dominant, autosomal recessive, or X-linked. Incomplete penetrance, imprinting, pleiotropic genes, and heterogeneous conditions are all seen. These genetic phenomena can present difficulties for genetic counseling. The most common genetic dystonias are presented in this chapter.


Deep Brain Stimulation Cervical Dystonia Generalize Dystonia Primary Dystonia Presymptomatic Testing 
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Supplementary material

Myoclonus dystonia Part 1 (MOV 254249 kb) (287.2 mb)
Myoclonus dystonia Part 2 (MOV 355128 kb)


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Copyright information

© Springer Science+Business Media New York 2015

Authors and Affiliations

  1. 1.Department of Child NeurologyBoston Children’s HospitalBostonUSA
  2. 2.Department of Neurology, Breakefield GroupMassachusetts General HospitalCharlestownUSA

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