Phenotypes-genotypes in dystonia

      There are a number of genetic forms of dystonia with new discoveries being made constantly. The phenotypes of the genetic forms can be classified as those with mainly isolated dystonia and those with combined dystonia where tehre are additional features apart from dystonia. The phenotypes of isolated dystonia such as young onset dystonia related to the DYT-1 and DYT-6 (THAP-1) genes and the more recent ANO3 and GNAL which can cause early adult forms of craniocervical dystonia. In the combined forms genetic phenotypes of myoclonus dystonia (epsilon sarcoglycan gene and others), genetic forms of dystonia with parkinsonism and other combined dystonia's will be discussed including the childhood onset KMT2B causing dystonia with anarthria. An approach for the clinican to be aware of these genetic forms and follow a systematic approach to the diagnosis will be provided.
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