8A02.11
Dystonia-plus
Distonia-plus
CategoryDefinition
This is a group of heterogenous syndromes present with dystonia – a disorder of involuntary muscle contractions – along with other clinical features, but not in tandem with a neurodegenerative disease. Examples include myoclonus dystonia and dopa responsive dystonia.
Index Terms
Dystonia-plusMyoclonus-dystoniaDopa-responsive dystoniaSegawa syndromeDYT5DRD - [dopa-responsive dystonia]Autosomal dominant dopa-responsive dystoniaHereditary progressive dystonia with marked diurnal fluctuationAutosomal dominant Segawa syndromeDYT5aHPD - [ hereditary progressive dystonia] with marked diurnal fluctuationAutosomal dominant DRD - [dopa-responsive dystonia]Autosomal recessive dopa-responsive dystoniaAutosomal recessive Segawa syndromeAutosomal recessive DRD - [dopa-responsive dystonia]Tyrosine hydroxylase deficiency