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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