Table 1.

List of dystonia-associated genes included in the analysis

Dystonia classification	Main dystonic phenotype	Gene	Inheritance	Locus	Other common clinical presentations/ additional clinical features
Combined dystonia	Dopa-responsive dystonia-parkinsonism	DDC	AR	None	DD, oculogyric crisis, truncal hypotonia, dysautonomia, ptosis
		DNAJC12	AR	None	DD, intellectual disability, HPA
		GCH1	AD and AR	DYT5	DD, hypotonia, spasticity and HPA in in bi-allelic mutation carriers
		PTS	AR	None	DD, oculogyric crisis, truncal hypotonia, dysautonomia, seizures, HPA
		QDPR	AR	None	DD, oculogyric crisis, truncal hypotonia, dysautonomia, seizures, HPA
		SLC18A2	AR	None	DD, truncal hypotonia, dysautonomia
		SLC6A3	AR	None	DD, oculogyric crisis, truncal hypotonia, bulbar dysfunction
		SPR	AR	None	DD, oculogyric crisis, truncal hypotonia, dysautonomia
		TH	AR	DYT5b	DD, oculogyric crisis, truncal hypotonia, dysautonomia, ptosis
	Dystonia-chorea-myoclonus	ADCY5	AD and AR	None	Episodic hyperkinesias triggered by sleep, truncal hypotonia
	Generalized dystonia with prominent cranial involvement	KMT2B	AD	DYT28	Intellectual disability, short stature
	Myoclonus-dystonia	KCTD17	AD	DYT26	Mild motor DD
		SGCE	AD	DYT11	Psychiatric co-morbidities (anxiety, obsessive compulsive disorder, alcohol addiction)
	Generalized dystonia with prominent laryngeal dystonia	TUBB4A	AD	DYT4	Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC)
	Generalized dystonia-parkinsonism	PRKRA	AR	DYT16	None
	Rapid-onset dystonia parkinsonism	ATP1A3	AD	DYT12	Alternating hemiplegia of childhood, Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndrome, paroxysmal limb dystonia
Isolated dystonia	Adult-onset cranio-cervical dystonia	ANO3	AD	DYT24	Subcortical myoclonus, prominent dystonic tremor
		GNAL	AD and AR	DYT25	None
	Early-onset generalized dystonia	HPCA	AR	DYT2	Learning disabilities, DD
		THAP1	AD and AR	DYT6	None
		TOR1A	AD	DYT1	Severe arthrogryposis in bi-allelic mutation carriers
Paroxysmal dystonia	Paroxysmal exercise-induced dystonia	SLC2A1	AD	DYT9 or DYT18	GLUT1-deficiency syndrome (DD, spasticity, microcephaly, ataxia, epilepsy)
	Paroxysmal kinesigenic dystonia	KCNA1	AD	n/a	Paroxysmal ataxia with interictal myokymia
		PRRT2	AD	DYT10 or DTY19	Benign familial infantile epilepsy, hemiplegic migraine, paroxysmal torticollis of infancy
		SCN8A	AD	None	Benign familial infantile seizures, early infantile epileptic encephalopathy
	Paroxysmal non-kinesigenic dystonia	KCNMA1	AD	None	Epilepsy, DD, cerebellar ataxia
		PNKD	AD	DYT8	None
	Paroxysmal torticollis of infancy	CACNA1A	AD	None	Paroxysmal ataxia with interictal dystonia, hemiplegic migraine, SCA6, early infantile epileptic encephalopathy

Genes have been grouped by their overall dystonia classification and main dystonic phenotype. Within these groupings, genes are sorted alphabetically. AD = autosomal dominant; AR = autosomal recessive; DD = developmental delay; HPA = hyperphenylalanaemia; SCA = spinocerebellar ataxia.