Disorder | Gene(s) | Diagnostic tests | Treatment |
Dopa-responsive dystonia, classic | GCH1 |
| Levodopa |
Dopa-responsive dystonia, complex | TH, PTPS, SPR |
| Levodopa, 5-hydroxytryptophan, or tetrahydrobiopterin |
Dystonia with brain manganese deposition | SLC30A10, SLC9A14 |
| Chelation therapy |
Glucose transporter type 1 deficiency | SLC2A1 |
| Ketogenic diet or triheptanoin |
Rapid-onset dystonia-parkinsonism | ATP1A3 |
| Avoid or treat intercurrent illness to prevent encephalopathic crises |
Wilson disease | ATP7B |
| Zinc or tetrathiomolybdate |
آیا می خواهید مدیلیب را به صفحه اصلی خود اضافه کنید؟