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  Česky / Czech version Čes. a slov. Neurol. Neurochir., 66/99, 2003, No. 5, p. 323–328.
 
Genetics of the dystonias 
Kaňovský P.1, Gaillyová R.2, Bareš M.1 

11. neurologická klinika LF MN FN u Sv. Anny, Brno 2Oddělení klinické genetiky, FN Brno, pracoviště Fakultní dětská nemocnice, Brno
 


Summary:

       Dystonias are characterized by phenotypical homogeneity of the dyskinesia itself, certain similarity regarding the clinical picture and almost complete genetic heterogenity. Currently used and frequently cited classifications of dystonia consider only the clinical manifestation of dystonia, the detectable nosological cause and the possible secondary character of the disease. Genetic classification of neurological disorders is, particularly in the area of extrapyramidal and neurodegenerative neurology, more than desired. Unfortunately, only in a small number of diseases, a complete or almost complete possibility of genetic testing and subsequent classification exists that can form a base for a new classification, such as in cerebellospinal ataxias. Nevertheless, the knowledge of genetic defects in individual disorders in this area grows practically every month. The following text presents basic phenomenological and pathophysiological data regarding dystonia and presents the facts known so far (including the most recent) about the genetic defects recognized in dystonic disorders.Despite the fact that these facts are truly numerous, they do not bring us closer to the possibility of classification or at least to thoughts of a classification.

        Key words: dystonia, pathophysiology, genetics
       

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