Locus | Designation | Mode of inheritance | Clinical features | Chromosome, mutation, and gene product |
DYT1 | Dystonia 1, torsion | AD | Typically begins in childhood; onset in limb often with progression to generalized dystonia | 9q34; GAG deletion in TOR1A gene causes abnormality in ATP-binding protein, torsinA |
DYT2 | Dystonia 2, torsion | AR | Childhood onset, generalized or segmental; Roma families | 1p35.1; HPCA gene that encodes hippocalcin |
DYT3 | X-linked dystonia-parkinsonism (Lubag) | X-linked recessive | Segmental or generalized dystonia with parkinsonism; predominantly in males from Panay island in Philippines | Xq13.1; TAF1 gene |
DYT4 | Whispering dysphonia | AD | Laryngeal and cervical dystonia, often with progression to generalized dystonia | 19p13.3; mutations in the TUBB4A gene |
DYT5 | Dopa-responsive dystonia/parkinsonism | AD | Dystonia with or without parkinsonism; dramatic response to levodopa | 14q22; GCH1 locus; mutations in GTP cyclohydrolase I gene |
Segawa syndrome | AR | Dystonia with or without parkinsonism; diurnal variation, with worst symptoms in evening; marked response to levodopa | 11p15.5; mutations in the tyrosine hydroxylase gene; tyrosine hydroxylase deficiency |
DYT6 | Dystonia 6, torsion | AD | Adolescent-onset dystonia of mixed type; mostly segmental dystonia; mixed limb, cervical, cranial; Amish-Mennonite, German, Irish, Italian families | 8p11.21; mutations in the THAP1 gene |
DYT7 | Dystonia 7, torsion | AD | Adult-onset focal dystonia with cervical dystonia, limb dystonia, dysphonia, or blepharospasm; German family | 18p; gene and product unknown |
DYT8 | Paroxysmal nonkinesigenic dyskinesia 1 | AD | Episodes of dystonia/choreoathetosis not precipitated by exercise or activity | 2q35; MR1 gene involved in myofibrillogenesis regulation |
DYT9 (allelic with DYT18) | Paroxysmal choreoathetosis with episodic spasticity and ataxia | AD | Episodes of dystonia, diplopia, and paresthesia with spastic paraplegia between attacks | 1p34.2; mutations in the SLC2A1 gene that encodes the glucose transporter type 1 |
DYT10 | Episodic kinesigenic dyskinesia 1 (paroxysmal kinesigenic dyskinesia) | AD | Episodic choreoathetosis and dystonia brought on by exercise/activity | 16p11.2; mutations in the PRRT2 gene |
DYT11 | Myoclonus-dystonia | AD | Myoclonic jerks associated with variable features of dystonia; very alcohol responsive | 7q; epsilon-sarcoglycan gene (SGCE) |
DYT12 | Rapid-onset dystonia-parkinsonism | AD | Onset of dystonia and parkinsonism over days to months | 19q; ATP1A3 gene that encodes the Na+/K+ -ATPase alpha3 subunit |
DYT13 | Dystonia 13, torsion | AD | Early adult-onset multifocal and segmental dystonia with cervical, cranial, and arm dystonia | 1p36.32-p36.13; gene and product unknown |
DYT14 | Dopa-responsive dystonia (now included under DYT5) | | | |
DYT15 | Dystonia 15, myoclonic | AD | Myoclonus and dystonia | 18p11; gene and product unknown |
DYT16 | Dystonia 16 | AR | Early-onset generalized dystonia; some cases with parkinsonism unresponsive to levodopa | 2q31.3; PRKRA gene |
DYT17 | Dystonia 17, torsion | AR | Adolescent onset in neck with regional spread | 20p11.2-q13.12; gene and product unknown |
DYT18 (allelic with DYT9) | Paroxysmal exercise-induced dyskinesia with or without epilepsy and/or hemolytic anemia (GLUT1 deficiency syndrome 2) | AD | Episodes of dystonia, diplopia, paresthesias with spastic paraplegia between attacks | 1p34.2; mutations in the SLC2A1 gene that encodes the glucose transporter type 1 |
DYT19 | Episodic kinesigenic dyskinesia 2 (paroxysmal kinesigenic dyskinesia) | AD | Episodic choreoathetosis and dystonia brought on by exercise/activity | 16q13-q22.1; gene and product unknown |
DYT20 | Paroxysmal nonkinesigenic dyskinesia 2 | AD | Spontaneous episodes of dystonia | 2q31; gene and product unknown |
DYT21 | Dystonia 21 | AD | Adolescent to adult onset; generalized or multifocal | 2q14.3-q21.3; gene and product unknown |
DYT23 | Dystonia 23 | AD | Adult-onset cervical dystonia | 9q34, CIZ1 gene |
DYT24 | Dystonia 24 | AD | Adult-onset craniocervical dystonia affecting the neck, laryngeal muscles, and arms | 11p14.2, ANO3 gene |
DYT25 | Dystonia 25 | AD | Adult-onset cervical dystonia with regional spread | 18p11.21, GNAL gene |
DYT26 | Dystonia 26, myoclonic | AD | Myoclonus in the first decades of life; craniocervical dystonia develops eventually | 22p12.3; KCTD17 gene encoding the BTB/POZ domain-containing protein KCTD17 |
DYT27 | Dystonia 27 | AR | Segmental isolated craniocervical and limb dystonia in the first decades of life | 2q37.3; COL6A3 gene encoding the collagen type VI alpha 3 chain |
DYT28 | Dystonia 28, childhood onset | AD | Childhood-onset caudal dystonia with rostral progression, intellectual disabilities, and dysmorphia | 19q13.12; KMT2B gene encoding the histone-lysine N-methyltransferase 2B protein |
DYT29 | Dystonia 29, childhood onset with optic atrophy and basal ganglia abnormalities | AR | Onset of dystonia and optic atrophy in the first decade of life | 1p35.3; MECR gene |
DYT30 | Dystonia 30 | AD | Early-onset upper body dystonia with eventual generalization | 20p13; VPS16 gene encoding the VPS16 core subunit of CORVET and HOPS complexes |
DYT31 | Dystonia 31 | AR | Progressive generalized dystonia with orofacial dyskinesias causing dysarthria and dysphagia | 9q22.32; AOPEP gene encoding aminopeptidase O |
DYT32 | Dystonia 32 | AR | Adult-onset, slowly progressive dystonia with eventual generalization complicated by dysarthria and dysphagia | 11q23.3; VPS11 gene encoding the VPS11 core subunit of CORVET and HOPS complexes |
DYT33 | Dystonia 33 | AD, AR | Childhood- to adolescent-onset, slowly progressive focal or generalized dystonia | 2p22.2; EIF2AK2 gene encoding the eukaryotic translation initiation factor 2-alpha kinase 2 |
DYT34 | Myoclonic dystonia 34 | AD | Childhood-onset dystonia involving the hands and neck with tremor and superimposed myoclonus | 5q22.3; KCNN2 gene encoding potassium calcium-activated channel subfamily N member 2 |