120. Hereditary dystonia Disease details / Clinical trials / Drug dev / DR info
Clinical trials : 26 / Drugs : 19 - (DrugBank : 3) / Drug target genes : 2 - Drug target pathways : 2
| Previous names | - | ||
|---|---|---|---|
| Other names | - | ||
| Disease group | Neuromuscular diseases | ||
| Related info (in Japanese) | - | ||
| Designated intractable diseases (in Japanese) | Overview, Diagnostic criteria, etc. (docx), Clinical research form (pdf) | ||
| Specific pediatric chronic diseases, Japan (in Japanese) | 11-29-82. dystonia musculorum deformans | ||
| Subtypes | No. | Name | Specific pediatric chronic diseases, Japan (in Japanese) |
| 120-1. | DYT1 dystonia; | 11-29-82. dystonia musculorum deformans | |
| 120-2. | DYT2 dystonia; | 11-29-82. dystonia musculorum deformans | |
| 120-3. | DYT3 dystonia;X-linked dystonia-parkinsonism;Lubag; | 11-29-82. dystonia musculorum deformans | |
| 120-4. | DYT4 dystonia; | 11-29-82. dystonia musculorum deformans | |
| 120-5. | DYT5 dystonia;DYT5a dystonia;DYT5b dystonia;DYT14 dystonia;Segawa syndrome;SS;Dopa-responsive dystonia;DRD; | 11-29-82. dystonia musculorum deformans 11-29-83. Segeawa syndrome; Dopamine-responsive dystonia; DRD; Hereditary progressive dystonia with diurnal variation; HPD | |
| 120-6. | DYT6 dystonia; | 11-29-82. dystonia musculorum deformans | |
| 120-7. | DYT7 dystonia; | 11-29-82. dystonia musculorum deformans | |
| 120-8. | DYT8 dystonia;Paroxysmal nonkinesigenic dyskinesia 1;PNKD1; | 11-29-82. dystonia musculorum deformans | |
| 120-9. | DYT9 dystonia;Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity;Paroxysmal choreoathetosis and episodic ataxia and spasticity;CSE; | 11-29-82. dystonia musculorum deformans | |
| 120-10. | DYT10 dystonia;Episodic kinesigenic dyskinesia 1;EKD1; | 11-29-82. dystonia musculorum deformans | |
| 120-11. | DYT11 dystonia;Myoclonus-dystonia syndrome;MDS; | 11-29-82. dystonia musculorum deformans | |
| 120-12. | DYT12 dystonia;Rapid-onset dystonia-parkinsonism;RDP;Alternating hemiplegia of childhood;AHC;Cerebellar ataxia, areflexia, pes cavus, optic atropy, and sensorineural hearing loss;CAPOS; | 11-28-81. alternating hemiplegia of childhood; AHC 11-29-82. dystonia musculorum deformans | |
| 120-13. | DYT13 dystonia; | 11-29-82. dystonia musculorum deformans | |
| 120-14. | DYT15 dystonia; | 11-29-82. dystonia musculorum deformans | |
| 120-15. | DYT16 dystonia; | 11-29-82. dystonia musculorum deformans | |
| 120-16. | DYT17 dystonia; | 11-29-82. dystonia musculorum deformans | |
| 120-17. | DYT18 dystonia;Paroxysmal execise-induced dyskinesia;PED; | 11-29-82. dystonia musculorum deformans | |
| 120-18. | DYT19 dystonia;Episodic kinesigenic dyskinesia 2;EKD2; | 11-29-82. dystonia musculorum deformans | |
| 120-19. | DYT20 dystonia;Paroxysmal nonkinesigenic dyskinesia 2;PNKD2; | 11-29-82. dystonia musculorum deformans | |
| 120-21. | Neurodegeneration with Brain Iron Accumulation 1;Pantothenate kinase-associated neurodegeneration;PKAN;Classical PKAN;Atypical PKAN;NBIA1;Hallervorden-Spatz syndrome;Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, pallidal degeneration; | 11-30-84. Pantothenate kinase-associated neurodegeneration; PKAN | |
| 120-22. | Neurodegeneration with Brain Iron Accumulation 2;Infantile neuroaxonal dystrophy;INAD;Classical INAD;Atypical INAD;NBIA2;Karak syndrome; | 11-30-85. infantile neuroaxonal dystrophy; INAD | |
| 120-23. | Neurodegeneration with Brain Iron Accumulation 3;Neuroferritinopathy;NBIA3; | ||
| 120-24. | Neurodegeneration with Brain Iron Accumulation 4;Aceruloplasminemia;Hereditary ceruloplasmin deficiency;NBIA4; | 8-8-110. Aceruloplasminemia | |
| 120-25. | Neurodegeneration with Brain Iron Accumulation 5;NBIA5;Beta-propeller protein-associated neurodegeneration;BPAN; | ||
| 120-26. | Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparasis with or without dystonia, spastic paraplegia 35; | ||