Table 5. Specific drugs.
| Disorder | Cause (gene) | Movement disorder | Other clinical features2 | Treatment | Outcome |
|---|---|---|---|---|---|
| Aromatic amino acid decarboxylase deficiency | Aromatic amino acid decarboxylase (AADC) | Dystonia | Developmental delay, hypotonia, oculogyric crises | Dopamine agonists, monoamine oxidase inhibitors, pyridoxine | Partial reversal of symptoms in some cases 39,40 |
| Dopa-responsive dystonia, classic | GTP cyclohydrolase (GCH1) | Dystonia, parkinsonism, spasticity | Motor delay | Levodopa | Complete reversal of most symptoms46,86 |
| Dopa-responsive dystonia, complex | Tyrosine hydroxylase (TH) | Dystonia, parkinsonism, spasticity, myoclonus | Developmental delay, encephalopathy, oculogyric crises, autonomic dysfunction | Levodopa | Complete or partial improvement of symptoms47 |
| Dopa-responsive dystonia, complex | 6-pyruvoyl tetrahydropterin synthase (FTPS) | Dystonia, parkinsonism, spasticity | Developmental delay, encephalopathy, oculogyric crises, autonomic dysfunction | Levodopa, 5-hydroxytryptophan | Complete or partial improvement of symptoms49 |
| Dopa-responsive dystonia, complex | Sepiapterin reductase (SPR) | Dystonia, parkinsonism, spasticity | Developmental delay, encephalopathy, oculogyric crises, autonomic dysfunction | Levodopa, 5-hydroxytryptophan | Complete or partial improvement of symptoms48 |
| Episodic ataxia type 2 | Calcium channel CaV2.1 (CACNA1A) | Ataxia (episodic and progressive), dystonia | Migraines, epilepsy | 4-aminopyridine, acetazolamide | Prevention or reduction of attacks51 |
| GLUT1 deficiency | Glucose transporter (GLUT1) | Paroxysmal or chronic dystonia, ataxia, chorea, myoclonus | Developmental delay, seizures, alternating hemiplegia | Ketogenic diet, triheptanoin | Treatment reduces symptoms50,84 |
| Molybdenum cofactor deficiency | Multiple molybdenum-dependent enzymes (eg, M0CS1) | Dystonia, parkinsonism | Developmental delay, encephalopathy, seizures | Cyclic pyranopterin monophosphate (for M0CS1) | Early treatment prevents symptoms36 |
| Paroxysmal kinesigenic dyskinesia | Multiple causes (eg, Prrt2) | Dystonia, chorea, tremor | Triggered by sudden movement, stress, other factors | Carbamazepine, other anticonvulsants | Prevents symptoms in many cases52 |
Many of these disorders have variable or mixed phenotypes. The most common or most dominant movement disorder shown in boldface type.