Genetisch determinierte Dystonien

Summary Dystonias are characterized by sustained or intermittent muscle contractions resulting in abnormal and often repetitive movements of different body parts. The classification of dystonia includes clinical and etiological criteria with a particular emphasis on genetic aspects due to the identification of disease-related genes. Three following main categories of dystonia can be distinguished: isolated dystonia, in which dystonia is the only presenting sign aside from tremor, combined dystonia, in which dystonia is combined with another movement disorder such as parkinsonism, chorea or myoclonus, and complex dystonia with additional neurological and non-neurological manifestations. Mutations in the following genes have been established as cause of hereditary dystonia: Tor1A, THAP1, GNAL, ANO3, KMT2B, GCH1, TAF1, PRKRA, ATP1A3, SGCE and ADCY5; >100 genes have been implicated in complex forms of dystonia. Therapeutic advances have particularly been achieved by the introduction of deep brain stimulation as various dystonias, including many genetic forms, exquisitely respond to this surgical procedure. Research networks currently join forces to further improve the differential diagnosis and development of causal treatment for dystonias.