Table 3.

Nomenclature System for Inherited (Monogenic) Forms of Isolated Dystonia and Combined Dystonia/Dyskinesia

Form of DystoniaGeneLocus NameNew Designation & Phenotypic SubgroupAdditional Distinguishing FeaturesMOI
Isolated TOR1A DYT1 DYT-TOR1A Childhood or adolescent-onset, generalizedAD
THAP1 DYT6DYT-THAP1Adolescent-onset, cranial or generalizedAD
ANO3 DYT24DYT-ANO3Adult-onset, focal or segmentalAD
GNAL DYT25DYT-GNALMostly adult-onset, focal or segmentalAD
KMT2B DYT28 DYT-KMT2B Early-onset, generalized, mild syndromic featuresAD
Combined Dystonia + parkinsonism GCH1 DYT5a DYT-GCH1 Dopa-responsiveAD, AR
TH DYT5b DYT-TH Dopa-responsiveAR
SPR Not assigned DYT-SPR Dopa-responsive, cognitive impairmentAR
TAF1 1DYT3 DYT-TAF1 NeurodegenerationXL
PRKRA DYT16DYT-PRKRADystonia w/mild parkinsonismAR
ATP1A3 DYT12 DYT-ATP1A3 Rapid-onsetAD
Dystonia + myoclonus SGCE DYT11 DYT-SGCE Psychiatric diseaseAD
Paroxysmal
dystonia
+ other
dyskinesia 		PNKD 2DYT8 PxMD-PNKD Paroxysmal nonkinesigenic dyskinesiaAD
PRRT2 DYT10 PxMD-PRRT2 Paroxysmal kinesigenic dyskinesiaAD
SLC2A1 DYT18 PxMD-SLC2A1 Paroxysmal exertion-induced dyskinesiaAD
ECHS1 Not assigned PxMD-ECHS1 Paroxysmal exertion-induced dyskinesiaAR
1.

Pathogenicity of TAF1 variants unconfirmed but molecular genetic testing for founder haplotype linked to disease is possible and can be used for diagnostic purposes.

2.

Previously known as MR-1

From: Hereditary Dystonia Overview

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