Version May 2024
| Usual onset | Locus symbol | Gene locus | Gene symbol | |
| Autosomal dominant | ||||
| Dystonia is the presenting or predominant manifestation | ||||
| Early-onset generalized dystonia (DYT-TOR1A) | Childhood to adolescence | DYT1 | 9q34 | TOR1A |
| Dopa-responsive dystonia; Segawa syndrome (DYT-GCH1) | Childhood | DYT5a | 14q22 | GCH1 |
| Adolescent-onset dystonia of mixed type (DYT-THAP1) | Adolescence | DYT6 | 8p11.21 | THAP1 |
| Cranial-cervical dystonia (DYT-GNAL) | Adulthood | DYT25 | 18p11.21 | GNAL |
| Early-onset generalized dystonia (DYT-KMT2B) | Childhood | DYT28 | 19q13.12 | KMT2B |
| Dystonia is an associated or secondary feature | ||||
| Paroxysmal nonkinesigenic dyskinesia 1 (DYT-MR1) | Adolescence to adulthood | DYT8 | 2q35 | MR1 |
| Episodic (paroxysmal) kinesigenic dyskinesia 1 (DYT-PRRT2) | Childhood to adolescence | DYT10 | 16p11.2 | PRRT2 |
| Myoclonus-dystonia (DYT-SGCE) | Childhood to adolescence | DYT11 | 7q | SGCE |
| Myoclonus-dystonia (DYT-KCTD17) | Childhood to early adulthood | DYT26 | 22q.12.3 | KCTD17 |
| Rapid-onset dystonia-parkinsonism (DYT-ATP1A3) | Childhood to adulthood | DYT12 | 19q | ATP1A3 |
| Paroxysmal exercise-induced dyskinesia (DYT-SLC2A1) | Childhood | DYT18 | 1p34.2 | SLC2A1 |
| Dentatorubral-pallidoluysian atrophy | Adulthood | N/A | 12p13.31 | ATN1 |
| Friedreich ataxia | Adolescence to adulthood | N/A | 9q21.11 | FXN |
| Huntington disease | Adolescence to adulthood | N/A | 4p16.3 | HTT |
| Idiopathic basal ganglia calcification 1 | Adulthood | N/A | 8p11.21 | SLC20A2 |
| Neuroferritinopathy | Adulthood | NBIA3 | 19q13.33 | FTL |
| Spinocerebellar ataxia 3 (Machado-Joseph disease) | Childhood to adulthood | SCA3 | 14q32.12 | ATXN3 |
| Spinocerebellar ataxia 17 | Adulthood | SCA17 | 6q27 | TBP |
| Autosomal recessive | ||||
| Dystonia is the presenting or predominant manifestation | ||||
| Dopa-responsive dystonia; Segawa syndrome (DYT-TH) | Infancy to childhood | DYT5b | 11p15.5 | TH |
| Dopa-responsive dystonia (DYT-SPR) | Infancy to childhood | N/A | 2p14-p12 | SPR |
| Dystonia is an associated or secondary feature | ||||
| Aromatic L-amino acid decarboxylase deficiency | Infancy | N/A | 7p12.1 | DDC (AADC) |
| Ataxia-telangiectasia | Childhood | N/A | 11q22.3 | ATM |
| Chorea-acanthocytosis | Adulthood | N/A | 9q21 | VPS13A |
| Fucosidosis | Infancy | N/A | 1p36.11 | FUCA1 |
| Glutaric acidemia | Infancy | N/A | 19p13.2 | GCDH |
| Huntington disease-like 3 | Childhood | HDL3 | 4p15.3 | ? |
| Infantile neuroaxonal dystrophy | Infancy | NBIA2a | 22q13.1 | PLA2G6 |
| Juvenile parkinsonism | Adolescence to adulthood | PARK2 | 6q26 | PRKN |
| Kufor-Rakeb syndrome | Childhood to adulthood | PARK9 | 1p36.13 | ATP13A2 |
| Methylmalonic aciduria | Infancy | N/A | 6p12.3 2q23.2 | MUT MMADHC |
| Niemann-Pick disease type C | Infancy to adulthood | N/A | 18q11-q12 14q24.3 | NPC1 NPC2 (HE) |
| Pantothenate kinase-associated neurodegeneration | Childhood | NBIA1 | 20p13 | PANK2 |
| Tay-Sachs disease | Infancy to adulthood | N/A | 15q23 | HEXA |
| Wilson disease | Childhood to adulthood | N/A | 13q14.3 | ATP7B |
| Woodhouse-Sakati syndrome | Adolescence | N/A | 2q31.1 | DCAF17 |
| X-linked | ||||
| Dystonia is an associated or secondary feature | ||||
| X-linked dystonia-parkinsonism; Lubag (DYT-TAF1) | Adulthood | DYT3 | XR | TAF1 |
| Lesch-Nyhan syndrome | Childhood | N/A | Xq26.2-q26.3 | HPRT |
| Mohr-Tranebjaerg dystonia-deafness syndrome | Childhood to adulthood | N/A | Xq22.1 | TIMM8A (DDP) |
| Pelizaeus-Merzbacher disease | Infancy | N/A | Xq22.2 | PLP1 |
| Rett syndrome | Infancy | N/A | Xq28 | MECP2 |
| Mitochondrial | ||||
| Dystonia is an associated or secondary feature | ||||
| Leber optic atrophy | Childhood to adolescence | N/A | N/A | Multiple mitochondrial-encoded genes |
| Leigh syndrome¶ | Infancy | N/A | N/A | Multiple nuclear and mitochondrial-encoded genes |
N/A: not assigned.
* This list is not comprehensive. An updated list of genetically determined movement disorders is maintained by the International Parkinson and Movement Disorder Society (MDS) at www.mdsgene.org.
¶ Leigh syndrome inheritance may be autosomal recessive or mitochondrial.آیا می خواهید مدیلیب را به صفحه اصلی خود اضافه کنید؟
