Table 2.
Causes of dystonia.
| Inherited |
| Amino acid metabolism |
| Glutaric academia |
| GAMT deficiency |
| Hartnup disease |
| Homocystinuria |
| Methylmalonic acidemia |
| Propionic acidemia |
| Sulfite oxidase deficiency |
| Neurotransmitter metabolism |
| Aadc deficiency |
| Dihydropterin reductase deficiency |
| GTP cyclohydrolase deficiency |
| PTPS deficiency |
| Tyrosine hydroxylase deficiency |
| Lipid metabolism/storage |
| Gm1 or Gm2 gangliosidosis |
| Krabbe’s disease |
| Metachromatic leukodystrophy |
| Neuronal ceroid lipofuscinosis |
| Niemann-Pick type C |
| Pelizaeus-Merzbacher disease |
| Ion/metal homeostasis |
| Aceruloplasminemia |
| Cav2.1 calcium channel defects |
| Fahr’s disease |
| Neuroferritinopathy |
| Rapid-onset dystonia-Parkinsonism |
| Wilson’s disease |
| Polyglutamine expansions |
| Dentato-rubral-pallidoluysian atrophy |
| Huntington’s disease |
| Spinocerebellar ataxias (1, 2, 3, 6, 7, 17) |
| DNA handling/transcription |
| Ataxia-oculomotor apraxia |
| Ataxia telangiectasia |
| Cockayne’s disease |
| Lubag |
| Rett’s syndrome |
| Xeroderma pigmentosum |
| Mitochondrial function |
| Deafness-dystonia syndrome |
| Fumarase deficiency |
| Leber’s hereditary optic neuropathy |
| Leigh’s syndrome |
| MELAS |
| MERRF |
| Pyruvate dehydrogenase deficiency |
| Other |
| Ataxia with vitamin E deficiency |
| Biotin-responsive basal ganglia disease |
| Frontotemporal dementias |
| Lesch-Nyhan disease |
| Myoclonus dystonia |
| Neuroacanthocytosis |
| Neuronal intranuclear inclusion disease |
| Oppenheim dystonia |
| Pantothenate kinase neurodegeneration |
| Triosephosphate isomerase |
| Acquired/sporadic |
| Medications |
| Carbamazepine |
| Cinnarizine |
| Dopamine antagonists/agonists |
| Fenfluramine |
| Flunarizine |
| Levodopa |
| Phenytoin |
| Prochlorperazine |
| Metaclopramide |
| Serotonin uptake inhibitors |
| Tiagabine |
| Toxins |
| 3-Nitropropionic acid |
| Bilirubin (kernicterus) |
| Carbon disulfide |
| Carbon monoxide |
| Cyanide |
| Disulfiram |
| Manganese |
| Methanol |
| Vascular |
| Stroke (hemmorhagic or ischemic) |
| Vascular malformation |
| Vasculitis |
| Infection |
| Bacterial |
| Fungal |
| Prion |
| Protozoan |
| Viral |
| Autoimmune |
| Anti-phospholipid syndrome |
| Dystonia gravidarum |
| Hymenoptera stings |
| Multiple sclerosis |
| Reye’s syndrome |
| Sjögren’s syndrome |
| Systemic lupus erythematosis |
| Subacute sclerosis panencephalitis |
| Trauma |
| Head |
| Nerve |
| Spine |
| Structural |
| Abcess |
| Arnold-Chiari malformation |
| Atlanto-axial subluxation |
| Syringomyelia |
| Tumors (brain, spine) |
| Other |
| Cerebral palsy |
| Corticobasal ganglionic degeneration |
| Hypoparathyroidism |
| Multiple system atrophy |
| Parkinson’s disease |
| Progressive supranuclear palsy |
| Tic disorder |
Though previous tables listing dystonia causes are commonly organized according to mode of inheritance, here the causes are organized according to biochemical or functional defects to emphasize the concept of shared themes in pathogenesis.
AADC: Aromatic amino acid decarboxylase; Cav2.1: P/Q-Type voltage regulated calcium channel; GAMT: Guanidinoacetate methyltransferase; GTP: Guanosine triphosphate; MELAS: Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes; MERRF: Mitochondrial encephalopathy with ragged red fibers; PTPS: Pyruvoyltetrahydropterin synthase.