Abstract
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.
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Waugh, J.L., Multhapt-Buell, T. (2015). Dystonia. In: Goldman, J. (eds) Genetic Counseling for Adult Neurogenetic Disease. Springer, Boston, MA. https://doi.org/10.1007/978-1-4899-7482-2_4
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DOI: https://doi.org/10.1007/978-1-4899-7482-2_4
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